Variant report

Variant	nsv891280
Chromosome Location	chr8:110346363-110465481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1773)
CpG islands
(count:1348)
Chromatin interactive
region (count:193)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1773 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:110359773-110359882	K562	blood:	n/a	n/a
2	ARID3A	chr8:110440493-110441166	K562	blood:	n/a	n/a
3	ARID3A	chr8:110359061-110359502	K562	blood:	n/a	n/a
4	ARID3A	chr8:110404919-110405551	K562	blood:	n/a	n/a
5	ARID3A	chr8:110381642-110382257	K562	blood:	n/a	chr8:110382190-110382206 chr8:110382189-110382205
6	ARID3A	chr8:110346126-110346545	K562	blood:	n/a	n/a
7	ARID3A	chr8:110378502-110378919	K562	blood:	n/a	n/a
8	ARID3A	chr8:110423847-110424726	K562	blood:	n/a	n/a
9	ARID3A	chr8:110359093-110359473	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:110346129-110346989	HepG2	liver:	n/a	n/a
11	ARID3A	chr8:110411923-110412202	K562	blood:	n/a	n/a
12	ARID3A	chr8:110355109-110355350	K562	blood:	n/a	chr8:110355323-110355339 chr8:110355324-110355340
13	ARID3A	chr8:110377303-110377464	K562	blood:	n/a	n/a
14	ATF1	chr8:110346176-110346949	K562	blood:	n/a	n/a
15	ATF1	chr8:110381750-110382104	K562	blood:	n/a	n/a
16	ATF1	chr8:110440707-110441089	K562	blood:	n/a	n/a
17	ATF1	chr8:110423878-110424292	K562	blood:	n/a	n/a
18	ATF1	chr8:110378470-110378772	K562	blood:	n/a	n/a
19	ATF2	chr8:110346107-110346948	GM12878	blood:	n/a	n/a
20	ATF2	chr8:110346081-110346628	GM12878	blood:	n/a	n/a
21	ATF2	chr8:110346122-110346773	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr8:110346126-110346743	A549	lung:	n/a	chr8:110346544-110346553
23	ATF3	chr8:110346287-110346527	GM12878	blood:	n/a	n/a
24	ATF3	chr8:110346231-110346545	HepG2	liver:	n/a	n/a
25	ATF3	chr8:110346144-110346656	GM12878	blood:	n/a	chr8:110346544-110346553
26	ATF3	chr8:110374993-110375321	K562	blood:	n/a	n/a
27	ATF3	chr8:110346143-110346579	K562	blood:	n/a	chr8:110346544-110346553
28	ATF3	chr8:110346111-110346601	H1-hESC	embryonic stem cell:	n/a	chr8:110346544-110346553
29	BACH1	chr8:110374153-110374307	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr8:110403534-110403559	K562	blood:	n/a	n/a
31	BACH1	chr8:110378699-110378798	K562	blood:	n/a	n/a
32	BACH1	chr8:110440421-110441061	K562	blood:	n/a	n/a
33	BACH1	chr8:110374595-110374769	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr8:110346134-110346916	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr8:110405000-110405477	K562	blood:	n/a	n/a
36	BATF	chr8:110362742-110363018	GM12878	blood:	n/a	n/a
37	BATF	chr8:110362748-110362954	GM12878	blood:	n/a	n/a
38	BATF	chr8:110345928-110346729	GM12878	blood:	n/a	n/a
39	BCL3	chr8:110405674-110405957	GM12878	blood:	n/a	n/a
40	BCL3	chr8:110414649-110414919	GM12878	blood:	n/a	n/a
41	BCL3	chr8:110345994-110346924	A549	lung:	n/a	chr8:110346105-110346114 chr8:110346106-110346119
42	BCL3	chr8:110461556-110461800	GM12878	blood:	n/a	n/a
43	BCL3	chr8:110458697-110459000	GM12878	blood:	n/a	n/a
44	BCL3	chr8:110345914-110346984	A549	lung:	n/a	chr8:110346105-110346114 chr8:110346106-110346119
45	BCL3	chr8:110461550-110461755	GM12878	blood:	n/a	n/a
46	BCLAF1	chr8:110346129-110346958	K562	blood:	n/a	n/a
47	BCLAF1	chr8:110345917-110346906	GM12878	blood:	n/a	chr8:110346105-110346114 chr8:110346106-110346119
48	BCLAF1	chr8:110346064-110347021	K562	blood:	n/a	chr8:110346105-110346114 chr8:110346106-110346119
49	BCLAF1	chr8:110345846-110346916	GM12878	blood:	n/a	chr8:110346105-110346114 chr8:110346106-110346119
50	BHLHE40	chr8:110381799-110382150	K562	blood:	n/a	n/a

(count:1348 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:110346498-110346548	HEEpiC	esophagus:	n/a
2	chr8:110374866-110374916	HEEpiC	esophagus:	n/a
3	chr8:110346440-110346490	GM06990	blood:	n/a
4	chr8:110346640-110346690	Caco-2	colon:	n/a
5	chr8:110346440-110346490	Jurkat	blood:	n/a
6	chr8:110374792-110374842	T-47D	breast:	n/a
7	chr8:110346498-110346548	HEEpiC	esophagus:	n/a
8	chr8:110374866-110374916	HEEpiC	esophagus:	n/a
9	chr8:110346440-110346490	GM06990	blood:	n/a
10	chr8:110346640-110346690	Caco-2	colon:	n/a
11	chr8:110346440-110346490	Jurkat	blood:	n/a
12	chr8:110374792-110374842	T-47D	breast:	n/a
13	chr8:110374866-110374916	GM12891	blood:	n/a
14	chr8:110346885-110346935	HAEpiC	amniotic membrane:	n/a
15	chr8:110346664-110346714	GM12892	blood:	n/a
16	chr8:110456058-110456108	AG09319	gingival:	n/a
17	chr8:110374866-110374916	Caco-2	colon:	n/a
18	chr8:110346503-110346553	K562	blood:	n/a
19	chr8:110346440-110346490	RPTEC	kidney:	n/a
20	chr8:110346503-110346553	AG09319	gingival:	n/a
21	chr8:110346885-110346935	SK-N-SH_RA	brain:	n/a
22	chr8:110374374-110374424	HUVEC	blood vessel:	n/a
23	chr8:110346385-110346435	HMEC	breast:	n/a
24	chr8:110346552-110346602	AG04450	lung:	fetal
25	chr8:110374294-110374344	PANC-1	pancreas:	n/a
26	chr8:110374374-110374424	SAEC	small airway:	n/a
27	chr8:110349212-110349262	AG04450	lung:	fetal
28	chr8:110346498-110346548	SK-N-SH	brain:	n/a
29	chr8:110346552-110346602	GM12878	blood:	n/a
30	chr8:110456058-110456108	LNCaP	prostate:	n/a
31	chr8:110346552-110346602	PANC-1	pancreas:	n/a
32	chr8:110374585-110374635	NB4	blood:	n/a
33	chr8:110374792-110374842	HepG2	liver:	n/a
34	chr8:110349212-110349262	HNPCEpiC	eye:	n/a
35	chr8:110346621-110346671	HepG2	liver:	n/a
36	chr8:110346503-110346553	SKMC	muscle:	n/a
37	chr8:110374792-110374842	HNPCEpiC	eye:	n/a
38	chr8:110346451-110346501	GM12891	blood:	n/a
39	chr8:110346885-110346935	K562	blood:	n/a
40	chr8:110346664-110346714	Hela-S3	cervix:	n/a
41	chr8:110374583-110374633	ovcar-3	ovarian:	n/a
42	chr8:110346621-110346671	HEK293	kidney:	embryo
43	chr8:110374374-110374424	GM12892	blood:	n/a
44	chr8:110346552-110346602	PrEC	prostate:	n/a
45	chr8:110346498-110346548	H1-hESC	embryonic stem cell:	embryo
46	chr8:110374583-110374633	K562	blood:	n/a
47	chr8:110346664-110346714	PFSK-1	brain:	n/a
48	chr8:110346498-110346548	LNCaP	prostate:	n/a
49	chr8:110346664-110346714	MCF-7	breast:	n/a
50	chr8:110346451-110346501	PFSK-1	brain:	n/a

(count:193 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr8:110462238..110464562-chr8:110469589..110471882,2	K562	blood:
2	chr8:110358764..110360570-chr8:110733520..110735088,2	MCF-7	breast:
3	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:
4	chr8:110375572..110377365-chr8:110452939..110455019,2	MCF-7	breast:
5	chr8:110436373..110439207-chr8:110551995..110553690,2	K562	blood:
6	chr8:110425956..110428666-chr8:110434429..110437325,2	K562	blood:
7	chr8:110356541..110358567-chr8:110652716..110654323,2	K562	blood:
8	chr8:110415571..110417491-chr8:110425418..110428260,2	K562	blood:
9	chr8:110413920..110415799-chr8:110416017..110418773,2	MCF-7	breast:
10	chr8:110360869..110363006-chr8:110404945..110406650,2	K562	blood:
11	chr8:110418172..110419815-chr8:110421960..110424604,2	K562	blood:
12	chr8:110443668..110447226-chr8:110448028..110451170,4	K562	blood:
13	chr8:110367088..110368622-chr8:110370242..110371743,2	K562	blood:
14	chr8:110441796..110443720-chr8:110443789..110445580,2	K562	blood:
15	chr8:109259359..109262285-chr8:110346380..110348055,2	K562	blood:
16	chr8:110425956..110428666-chr8:110434429..110437325,2	K562	blood:
17	chr8:110429297..110431956-chr8:110445022..110447169,2	K562	blood:
18	chr8:110371146..110373102-chr8:110382024..110383577,2	K562	blood:
19	chr8:110403524..110405569-chr8:110405749..110408596,2	K562	blood:
20	chr8:110376237..110378577-chr8:110400092..110402254,2	K562	blood:
21	chr12:52445050..52445689-chr8:110346302..110346908,2	Hela-S3	cervix:
22	chr8:110365000..110368622-chr8:110368906..110372128,4	K562	blood:
23	chr8:110344753..110346999-chr8:110656055..110658588,2	MCF-7	breast:
24	chr8:110399789..110401392-chr8:110406709..110408339,2	K562	blood:
25	chr8:110339087..110342457-chr8:110344931..110347313,3	K562	blood:
26	chr8:110372108..110374370-chr8:110379678..110381794,2	K562	blood:
27	chr8:110402628..110405263-chr8:110414380..110416350,2	MCF-7	breast:
28	chr8:110403354..110405591-chr8:110412229..110414153,2	K562	blood:
29	chr8:110438163..110441059-chr8:110444438..110447388,2	K562	blood:
30	chr8:110403524..110405569-chr8:110405749..110408596,2	K562	blood:
31	chr8:110296774..110299286-chr8:110348162..110350315,2	K562	blood:
32	chr8:110413992..110416769-chr8:110420548..110422727,2	K562	blood:
33	chr8:110358952..110359590-chr8:110664334..110665002,4	MCF-7	breast:
34	chr8:110413961..110415545-chr8:110421000..110423217,2	MCF-7	breast:
35	chr8:110455738..110458666-chr8:110463282..110464812,2	MCF-7	breast:
36	chr8:110399789..110401948-chr8:110406839..110408656,2	K562	blood:
37	chr8:110356353..110358345-chr8:110361451..110363405,2	MCF-7	breast:
38	chr8:110418593..110421354-chr8:110426725..110428421,2	K562	blood:
39	chr8:110357510..110359892-chr8:110365729..110367920,2	K562	blood:
40	chr8:110360869..110363006-chr8:110404945..110406650,2	K562	blood:
41	chr8:110357510..110359892-chr8:110365729..110367920,2	K562	blood:
42	chr8:110354538..110356722-chr8:110753055..110755461,2	K562	blood:
43	chr8:110429847..110432433-chr8:110563129..110565263,2	K562	blood:
44	chr8:110369620..110372095-chr8:110373747..110377477,3	K562	blood:
45	chr8:110388617..110395072-chr8:110396032..110405839,11	K562	blood:
46	chr8:110396038..110397766-chr8:110402101..110404529,2	K562	blood:
47	chr8:110345352..110350052-chr8:110379247..110382011,4	K562	blood:
48	chr8:110397526..110401680-chr8:110402055..110405525,5	K562	blood:
49	chr8:110399789..110401392-chr8:110406709..110408339,2	K562	blood:
50	chr8:110413992..110416769-chr8:110420548..110422727,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PKHD1L1-2	chr8:110351549-110351975	NONHSAT128289
2	lnc-PKHD1L1-2	chr8:110346575-110346631	NONHSAT128289
3	lnc-PKHD1L1-2	chr8:110348357-110348433	NONHSAT128289

No data

Variant related genes	Relation type
PKHD1L1	TF binding region
ENY2	TF binding region
NUDCD1	TF binding region
PKHD1L1	CpG island
ENY2	CpG island
NUDCD1	CpG island
ENSG00000185278	chromatin interactions
ENSG00000120533	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000253796	chromatin interactions
ENSG00000147654	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000147642	chromatin interactions
ENSG00000164794	chromatin interactions
ENSG00000255402	chromatin interactions
ENSG00000013375	chromatin interactions
ENSG00000205038	chromatin interactions
ENSG00000138709	chromatin interactions
ENSG00000188290	chromatin interactions
ENSG00000104408	chromatin interactions
ENSG00000013392	chromatin interactions
ENSG00000120526	chromatin interactions
ENSG00000248050	chromatin interactions

Extended variants
information (count: 3583 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:3583 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16879336	chr8:110346363-110346364	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554054698	chr8:110346457-110346458	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs186527069	chr8:110346481-110346482	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs371178725	chr8:110346522-110346523	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs541228205	chr8:110346525-110346526	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs564708372	chr8:110346566-110346567	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs578243473	chr8:110346567-110346568	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs375905692	chr8:110346575-110346576	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
9	rs544141360	chr8:110346582-110346583	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
10	rs563655896	chr8:110346603-110346604	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
11	rs529331315	chr8:110346621-110346622	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
12	rs374095892	chr8:110346650-110346651	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs549450357	chr8:110346653-110346654	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs2980567	chr8:110346781-110346782	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs368899502	chr8:110346794-110346795	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs190550298	chr8:110346795-110346796	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs183151327	chr8:110346798-110346799	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs138732992	chr8:110346816-110346817	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs539333304	chr8:110346843-110346844	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs371872305	chr8:110346860-110346861	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs2980568	chr8:110346873-110346874	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs372214334	chr8:110346886-110346887	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs11992701	chr8:110346892-110346893	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs2926243	chr8:110346900-110346901	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs573363727	chr8:110346914-110346915	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs142678463	chr8:110346919-110346920	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs569307507	chr8:110346950-110346951	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs535985019	chr8:110347055-110347056	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs375202827	chr8:110347161-110347162	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs73305455	chr8:110347162-110347163	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573400065	chr8:110347178-110347179	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs145337830	chr8:110347179-110347180	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs16879338	chr8:110347214-110347215	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112325594	chr8:110347239-110347240	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs572001794	chr8:110347256-110347257	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs534739564	chr8:110347269-110347270	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs557745622	chr8:110347318-110347319	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs558036593	chr8:110347347-110347348	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs73307517	chr8:110347348-110347349	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544105148	chr8:110347378-110347379	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs564015165	chr8:110347384-110347385	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs2980569	chr8:110347402-110347403	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs555009279	chr8:110347462-110347463	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs540317358	chr8:110347477-110347478	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs187557535	chr8:110347507-110347508	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs150302569	chr8:110347517-110347518	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs577770374	chr8:110347525-110347526	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs35038092	chr8:110347592-110347593	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs566827093	chr8:110347608-110347609	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs551867397	chr8:110347653-110347654	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Gastric cancer	22014070	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1170 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110343800-110347600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr8:110344000-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:110344200-110347600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:110344200-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:110344400-110348400	Active TSS	Right Ventricle	heart
6	chr8:110344600-110347400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:110344600-110347600	Active TSS	HSMMtube	muscle
8	chr8:110344600-110347600	Active TSS	NHLF	lung
9	chr8:110344600-110348200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:110344800-110347200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr8:110344800-110347400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:110344800-110347600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:110344800-110347600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:110344800-110347600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr8:110344800-110347600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr8:110344800-110348000	Active TSS	Right Atrium	heart
17	chr8:110345000-110347000	Active TSS	NHEK	skin
18	chr8:110345000-110347200	Active TSS	Hela-S3	cervix
19	chr8:110345000-110347200	Active TSS	HMEC	breast
20	chr8:110345000-110347400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:110345000-110347400	Active TSS	Thymus	Thymus
22	chr8:110345000-110347600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr8:110345000-110347600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:110345000-110347600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:110345000-110347600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:110345000-110347600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:110345000-110347600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:110345000-110347600	Active TSS	HSMM	muscle
29	chr8:110345000-110347600	Active TSS	NHDF-Ad	bronchial
30	chr8:110345000-110347800	Active TSS	Psoas Muscle	Psoas
31	chr8:110345000-110348000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:110345000-110348000	Active TSS	K562	blood
33	chr8:110345000-110348200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr8:110345000-110348200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:110345000-110348200	Active TSS	GM12878-XiMat	blood
36	chr8:110345200-110347000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:110345200-110347000	Active TSS	Brain Hippocampus Middle	brain
38	chr8:110345200-110347200	Active TSS	Brain Anterior Caudate	brain
39	chr8:110345200-110347200	Active TSS	Fetal Brain Male	brain
40	chr8:110345200-110347400	Active TSS	Fetal Stomach	stomach
41	chr8:110345200-110347600	Active TSS	Muscle Satellite Cultured Cells	--
42	chr8:110345200-110347600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:110345200-110347600	Active TSS	Fetal Intestine Large	intestine
44	chr8:110345200-110347600	Active TSS	Fetal Lung	lung
45	chr8:110345200-110347600	Active TSS	Fetal Muscle Leg	muscle
46	chr8:110345200-110347600	Active TSS	Fetal Thymus	thymus
47	chr8:110345200-110347600	Active TSS	A549	lung
48	chr8:110345200-110347800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:110345200-110347800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:110345200-110347800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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