Variant report

Variant	esv3405423
Chromosome Location	chr7:99816156-99943860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3801)
CpG islands
(count:2932)
Chromatin interactive
region (count:45)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3801 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99942479-99942739	K562	blood:	n/a	n/a
2	ARID3A	chr7:99868232-99868445	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:99839651-99839851	HepG2	liver:	n/a	n/a
4	ATF1	chr7:99841178-99841415	K562	blood:	n/a	n/a
5	ATF1	chr7:99824274-99824474	K562	blood:	n/a	n/a
6	ATF1	chr7:99933514-99933890	K562	blood:	n/a	n/a
7	ATF1	chr7:99942460-99942769	K562	blood:	n/a	n/a
8	ATF1	chr7:99862406-99862503	K562	blood:	n/a	n/a
9	ATF2	chr7:99818780-99819315	GM12878	blood:	n/a	n/a
10	ATF2	chr7:99933587-99933979	GM12878	blood:	n/a	n/a
11	ATF2	chr7:99844885-99845308	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr7:99818583-99819387	GM12878	blood:	n/a	n/a
13	ATF2	chr7:99942368-99942771	GM12878	blood:	n/a	n/a
14	ATF2	chr7:99889833-99890086	GM12878	blood:	n/a	n/a
15	ATF2	chr7:99942273-99942839	GM12878	blood:	n/a	n/a
16	ATF3	chr7:99867202-99867626	K562	blood:	n/a	n/a
17	ATF3	chr7:99942209-99942369	K562	blood:	n/a	n/a
18	ATF3	chr7:99942464-99942678	GM12878	blood:	n/a	n/a
19	ATF3	chr7:99869654-99870002	K562	blood:	n/a	chr7:99869812-99869821
20	ATF3	chr7:99844689-99845311	A549	lung:	n/a	n/a
21	ATF3	chr7:99942419-99942692	K562	blood:	n/a	n/a
22	ATF3	chr7:99942337-99942735	K562	blood:	n/a	n/a
23	ATF3	chr7:99844854-99845385	A549	lung:	n/a	n/a
24	ATF3	chr7:99942478-99942769	GM12878	blood:	n/a	n/a
25	BACH1	chr7:99933388-99934007	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr7:99869775-99869955	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr7:99841070-99841415	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr7:99844959-99845128	K562	blood:	n/a	n/a
29	BACH1	chr7:99844772-99845349	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr7:99841056-99841380	K562	blood:	n/a	n/a
31	BATF	chr7:99933508-99933915	GM12878	blood:	n/a	n/a
32	BATF	chr7:99942012-99942396	GM12878	blood:	n/a	n/a
33	BATF	chr7:99922916-99923120	GM12878	blood:	n/a	n/a
34	BATF	chr7:99915667-99915855	GM12878	blood:	n/a	n/a
35	BATF	chr7:99931291-99931464	GM12878	blood:	n/a	n/a
36	BATF	chr7:99902075-99902343	GM12878	blood:	n/a	n/a
37	BATF	chr7:99902780-99903057	GM12878	blood:	n/a	n/a
38	BATF	chr7:99921263-99921667	GM12878	blood:	n/a	n/a
39	BATF	chr7:99932699-99932942	GM12878	blood:	n/a	n/a
40	BATF	chr7:99933104-99933496	GM12878	blood:	n/a	n/a
41	BATF	chr7:99900740-99901050	GM12878	blood:	n/a	n/a
42	BATF	chr7:99931789-99932008	GM12878	blood:	n/a	n/a
43	BATF	chr7:99902062-99903018	GM12878	blood:	n/a	n/a
44	BATF	chr7:99942414-99943143	GM12878	blood:	n/a	n/a
45	BATF	chr7:99901300-99901503	GM12878	blood:	n/a	n/a
46	BATF	chr7:99902374-99902726	GM12878	blood:	n/a	n/a
47	BATF	chr7:99889699-99890163	GM12878	blood:	n/a	n/a
48	BATF	chr7:99901285-99901496	GM12878	blood:	n/a	n/a
49	BATF	chr7:99942435-99942967	GM12878	blood:	n/a	n/a
50	BATF	chr7:99841078-99841387	GM12878	blood:	n/a	n/a

(count:2932 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99905334-99905384	HMEC	breast:	n/a
2	chr7:99869028-99869078	GM12878	blood:	n/a
3	chr7:99816256-99816306	GM12878	blood:	n/a
4	chr7:99933670-99933720	NH-A	brain:	n/a
5	chr7:99905334-99905384	HMEC	breast:	n/a
6	chr7:99869028-99869078	GM12878	blood:	n/a
7	chr7:99816256-99816306	GM12878	blood:	n/a
8	chr7:99933670-99933720	NH-A	brain:	n/a
9	chr7:99933797-99933847	AG10803	skin:	n/a
10	chr7:99935133-99935183	GM06990	blood:	n/a
11	chr7:99869835-99869885	ECC-1	luminal epithelium:	n/a
12	chr7:99935177-99935227	NT2-D1	testis:	n/a
13	chr7:99853308-99853358	SK-N-SH_RA	brain:	n/a
14	chr7:99867678-99867728	SK-N-MC	brain:	n/a
15	chr7:99933717-99933767	HRE	kidney:	n/a
16	chr7:99816256-99816306	SAEC	small airway:	n/a
17	chr7:99933721-99933771	GM12891	blood:	n/a
18	chr7:99853308-99853358	AG09309	skin:	n/a
19	chr7:99933721-99933771	A549	lung:	n/a
20	chr7:99933530-99933580	RPTEC	kidney:	n/a
21	chr7:99934006-99934056	RPTEC	kidney:	n/a
22	chr7:99816750-99816800	BJ	skin:	n/a
23	chr7:99905331-99905381	AG09319	gingival:	n/a
24	chr7:99816750-99816800	U87	brain:	n/a
25	chr7:99819110-99819160	HPAEpiC	pulmonary alveolar:	n/a
26	chr7:99905331-99905381	HL-60	blood:	n/a
27	chr7:99934001-99934051	HUVEC	blood vessel:	n/a
28	chr7:99870057-99870107	SKMC	muscle:	n/a
29	chr7:99934001-99934051	PFSK-1	brain:	n/a
30	chr7:99912131-99912181	HCPEpiC	choroid plexus:	n/a
31	chr7:99817027-99817077	SK-N-SH_RA	brain:	n/a
32	chr7:99818709-99818759	BJ	skin:	n/a
33	chr7:99934006-99934056	GM19239	blood:	n/a
34	chr7:99816473-99816523	PANC-1	pancreas:	n/a
35	chr7:99932089-99932139	U87	brain:	n/a
36	chr7:99933968-99934018	PrEC	prostate:	n/a
37	chr7:99819110-99819160	HCPEpiC	choroid plexus:	n/a
38	chr7:99818709-99818759	HRCEpiC	kidney:	n/a
39	chr7:99918120-99918170	H1-hESC	embryonic stem cell:	embryo
40	chr7:99935133-99935183	SAEC	small airway:	n/a
41	chr7:99819110-99819160	CMK	blood:	n/a
42	chr7:99867678-99867728	HMEC	breast:	n/a
43	chr7:99904875-99904925	HEEpiC	esophagus:	n/a
44	chr7:99873963-99874013	GM06990	blood:	n/a
45	chr7:99905334-99905384	SK-N-MC	brain:	n/a
46	chr7:99816473-99816523	GM06990	blood:	n/a
47	chr7:99870040-99870090	ProgFib	skin:	n/a
48	chr7:99932089-99932139	HCM	heart:	n/a
49	chr7:99912131-99912181	RPTEC	kidney:	n/a
50	chr7:99932089-99932139	A549	lung:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99941805..99944661-chr7:100026023..100029271,5	K562	blood:
2	chr6:90539369..90540027-chr7:99932976..99933753,2	Hela-S3	cervix:
3	chr7:99728822..99730642-chr7:99819093..99820968,2	K562	blood:
4	chr7:99942281..99944536-chr7:100038040..100040733,2	K562	blood:
5	chr7:99687225..99689222-chr7:99941208..99944059,2	K562	blood:
6	chr7:99765936..99768056-chr7:99933468..99935315,2	MCF-7	breast:
7	chr7:66767136..66768124-chr7:99933487..99934025,2	HCT-116	colon:
8	chr5:36876650..36877236-chr7:99933531..99934342,2	Hela-S3	cervix:
9	chr7:99943654..99945784-chr7:99961276..99963907,2	K562	blood:
10	chr7:99932318..99935048-chr7:100026420..100028378,2	MCF-7	breast:
11	chr7:99933438..99934039-chr7:100026430..100027170,2	NB4	blood:
12	chr7:99678858..99680502-chr7:99868393..99870017,2	K562	blood:
13	chr7:99816172..99818771-chr7:99820736..99823098,2	MCF-7	breast:
14	chr7:99935191..99937909-chr7:99939169..99942843,3	K562	blood:
15	chr7:99942126..99946670-chr7:99946770..99950661,7	K562	blood:
16	chr7:99844918..99846658-chr7:99861769..99864301,2	K562	blood:
17	chr7:99931911..99935442-chr7:99938364..99941933,5	MCF-7	breast:
18	chr7:99932595..99935080-chr7:100025979..100028387,3	K562	blood:
19	chr7:99931911..99935442-chr7:99938364..99941933,5	MCF-7	breast:
20	chr1:35658693..35659210-chr7:99933428..99934253,2	Hela-S3	cervix:
21	chr7:99851711..99854330-chr7:99942995..99944936,2	K562	blood:
22	chr7:99932349..99935076-chr7:100025979..100028387,3	K562	blood:
23	chr7:99943342..99945530-chr7:99954534..99957362,2	K562	blood:
24	chr7:99816172..99818771-chr7:99820736..99823098,2	MCF-7	breast:
25	chr7:99851711..99854330-chr7:99942995..99944936,2	K562	blood:
26	chr7:99746174..99748056-chr7:99869608..99872452,2	K562	blood:
27	chr7:99932234..99937909-chr7:99939373..99942446,6	K562	blood:
28	chr7:99942279..99946162-chr7:100025896..100028763,3	K562	blood:
29	chr7:99933746..99935432-chr7:100238068..100240501,2	K562	blood:
30	chr7:99727332..99729925-chr7:99816500..99818908,2	MCF-7	breast:
31	chr7:99932234..99937909-chr7:99939373..99942446,6	K562	blood:
32	chr7:99715815..99718290-chr7:99932504..99934640,2	MCF-7	breast:
33	chr7:99939167..99940736-chr7:100025324..100028004,2	K562	blood:
34	chr7:99942706..99944799-chr7:99946310..99948401,2	MCF-7	breast:
35	chr7:99941834..99943595-chr7:99990991..99992805,2	K562	blood:
36	chr7:99765087..99767995-chr7:99853520..99855278,2	K562	blood:
37	chr11:18416119..18416955-chr7:99933156..99933912,2	Hela-S3	cervix:
38	chr7:99933293..99933992-chr7:130794505..130795164,2	Hela-S3	cervix:
39	chr7:99754140..99756334-chr7:99844492..99846727,2	MCF-7	breast:
40	chr7:99815070..99817106-chr7:99943505..99945105,2	MCF-7	breast:
41	chr7:6048837..6049368-chr7:99933514..99934016,2	Hela-S3	cervix:
42	chr7:99844918..99846658-chr7:99861769..99864301,2	K562	blood:
43	chr7:99935191..99937909-chr7:99939169..99942843,3	K562	blood:
44	chr6:7909845..7910649-chr7:99932993..99933972,2	Hela-S3	cervix:
45	chr6:26216777..26217754-chr7:99933218..99933721,2	Hela-S3	cervix:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PILRB-1	chr7:99936396-99936512	NONHSAT122362
2	lnc-GATS-1	chr7:99907941-99908299	expReg_chr7_6426_-
3	lnc-PILRB-1	chr7:99933737-99933960	NONHSAT122358
4	lnc-PVRIG-1	chr7:99816872-99816958	NONHSAT122352
5	lnc-GATS-2	chr7:99913916-99914300	expReg_chr7_6439_-
6	lnc-PVRIG-1	chr7:99815864-99816264	NONHSAT122352
7	lnc-PILRB-1	chr7:99943488-99943591	NONHSAT122362
8	lnc-GATS-3	chr7:99927647-99927907	NONHSAT122354
9	lnc-GATS-3	chr7:99928086-99928176	NONHSAT122354
10	lnc-PILRB-1	chr7:99935200-99935637	NONHSAT122361
11	lnc-PILRB-1	chr7:99935802-99935887	NONHSAT122361
12	lnc-PILRB-1	chr7:99935800-99935887	NONHSAT122362
13	lnc-PILRB-1	chr7:99936396-99936428	NONHSAT122361

No data

Variant related genes	Relation type
PMS2P1	TF binding region
ENSG00000222482	TF binding region
STAG3L5P	TF binding region
PILRB	TF binding region
SPDYE3	TF binding region
STAG3L5P-PVRIG2P-PILRB	TF binding region
ENSG00000239521	TF binding region
ENSG00000201913	TF binding region
GATS	TF binding region
PVRIG	TF binding region
PMS2P1	CpG island
ENSG00000222482	CpG island
STAG3L5P	CpG island
PILRB	CpG island
SPDYE3	CpG island
STAG3L5P-PVRIG2P-PILRB	CpG island
ENSG00000239521	CpG island
ENSG00000201913	CpG island
GATS	CpG island
PVRIG	CpG island
ENSG00000106290	chromatin interactions
ENSG00000067601	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000239521	chromatin interactions
ENSG00000272752	chromatin interactions
ENSG00000235333	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000116560	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000128585	chromatin interactions
ENSG00000168090	chromatin interactions
ENSG00000222482	chromatin interactions
ENSG00000242294	chromatin interactions
ENSG00000078319	chromatin interactions
ENSG00000106305	chromatin interactions
ENSG00000166526	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000166997	chromatin interactions
ENSG00000231721	chromatin interactions
ENSG00000235077	chromatin interactions
ENSG00000118412	chromatin interactions
ENSG00000213413	chromatin interactions
ENSG00000266154	chromatin interactions
ENSG00000239264	chromatin interactions
ENSG00000121716	chromatin interactions
ENSG00000188186	chromatin interactions
ENSG00000164190	chromatin interactions
ENSG00000106610	chromatin interactions
ENSG00000106327	chromatin interactions
ENSG00000146826	chromatin interactions
ENSG00000197093	chromatin interactions
ENSG00000134333	chromatin interactions

Extended variants
information (count: 4342 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:4342 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191054029	chr7:99816160-99816161	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs17147699	chr7:99816173-99816174	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs1727142	chr7:99816179-99816180	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs397833358	chr7:99816213-99816214	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs397833357	chr7:99816216-99816217	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs397833356	chr7:99816231-99816232	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs1727143	chr7:99816256-99816257	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs1636986	chr7:99816272-99816273	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs1636987	chr7:99816275-99816276	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs79649688	chr7:99816285-99816286	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
11	rs141018119	chr7:99816287-99816288	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575386692	chr7:99816383-99816384	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs183418879	chr7:99816394-99816395	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1636988	chr7:99816437-99816438	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs3991345	chr7:99816471-99816472	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs3991344	chr7:99816475-99816476	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs147142309	chr7:99816486-99816487	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs3991354	chr7:99816488-99816489	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs62482172	chr7:99816509-99816510	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs574191056	chr7:99816561-99816562	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs3991353	chr7:99816584-99816585	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs3958529	chr7:99816622-99816623	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188354603	chr7:99816649-99816650	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs1727144	chr7:99816673-99816674	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
25	rs530711520	chr7:99816682-99816683	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs552477327	chr7:99816750-99816751	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs564201558	chr7:99816841-99816842	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs35006781	chr7:99816844-99816845	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs192036478	chr7:99816878-99816879	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs546295467	chr7:99816988-99816989	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs567680661	chr7:99817000-99817001	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372042306	chr7:99817022-99817023	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs535181973	chr7:99817028-99817029	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550258284	chr7:99817058-99817059	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569149184	chr7:99817059-99817060	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117789573	chr7:99817076-99817077	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs558458579	chr7:99817107-99817108	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573473645	chr7:99817112-99817113	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs534463142	chr7:99817113-99817114	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs555480340	chr7:99817133-99817134	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs574079378	chr7:99817155-99817156	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs544755128	chr7:99817179-99817180	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs17250196	chr7:99817196-99817197	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575536483	chr7:99817208-99817209	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112802954	chr7:99817231-99817232	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs572444724	chr7:99817258-99817259	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs545700229	chr7:99817348-99817349	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs564273450	chr7:99817350-99817351	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528387228	chr7:99817351-99817352	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs7782305	chr7:99817391-99817392	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:98)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:3220 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99790000-99817000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:99796800-99816800	Weak transcription	Brain Germinal Matrix	brain
3	chr7:99796800-99817000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:99799000-99816600	Weak transcription	Fetal Brain Female	brain
5	chr7:99801400-99826000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:99803000-99816800	Weak transcription	Brain Angular Gyrus	brain
7	chr7:99805200-99818400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:99806800-99819000	Weak transcription	Fetal Lung	lung
9	chr7:99807200-99828400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:99807200-99847000	Weak transcription	Fetal Kidney	kidney
11	chr7:99807600-99818400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:99809000-99817600	Weak transcription	Small Intestine	intestine
13	chr7:99809200-99817600	Weak transcription	Colonic Mucosa	Colon
14	chr7:99809200-99834800	Weak transcription	HSMMtube	muscle
15	chr7:99809400-99817600	Weak transcription	Spleen	Spleen
16	chr7:99809400-99818200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:99809600-99816800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:99809600-99817600	Weak transcription	Dnd41	blood
19	chr7:99809600-99818600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:99810600-99864000	Weak transcription	Right Atrium	heart
21	chr7:99810800-99816800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:99811200-99818200	Weak transcription	Adipose Nuclei	Adipose
23	chr7:99811400-99817200	Weak transcription	Fetal Intestine Large	intestine
24	chr7:99811400-99817600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:99811400-99828600	Weak transcription	HepG2	liver
26	chr7:99811600-99816800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:99811600-99819000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:99811600-99823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:99811600-99834800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:99812000-99817600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:99812200-99818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:99812200-99819000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:99812200-99823800	Weak transcription	Stomach Mucosa	stomach
34	chr7:99812400-99839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:99812800-99817600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:99813800-99816800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:99813800-99816800	Weak transcription	Brain Anterior Caudate	brain
38	chr7:99813800-99816800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:99813800-99817000	Weak transcription	Lung	lung
40	chr7:99813800-99817400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:99813800-99818400	Weak transcription	Right Ventricle	heart
42	chr7:99813800-99825000	Weak transcription	Psoas Muscle	Psoas
43	chr7:99813800-99829400	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:99813800-99838800	Weak transcription	Fetal Brain Male	brain
45	chr7:99813800-99841200	Weak transcription	Left Ventricle	heart
46	chr7:99813800-99846800	Weak transcription	Ovary	ovary
47	chr7:99814000-99816800	Weak transcription	Brain Substantia Nigra	brain
48	chr7:99814000-99816800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:99814000-99818600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:99814000-99818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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