Variant report

Variant	esv1818955
Chromosome Location	chr7:102104752-102328097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8310)
CpG islands
(count:2808)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 2)
miRNA target
sites (count:2)

(count:8310 , 50 per page) page: 1 2 3 4 5 6 7 ... 167

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:102105026-102105477	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:102107670-102107707	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:102212897-102213097	HepG2	liver:	n/a	n/a
4	ATF2	chr7:102153014-102153393	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr7:102105214-102105642	GM12878	blood:	n/a	n/a
6	ATF3	chr7:102105121-102105483	H1-hESC	embryonic stem cell:	n/a	chr7:102105134-102105143
7	ATF3	chr7:102213014-102213141	GM12878	blood:	n/a	n/a
8	ATF3	chr7:102213014-102213188	K562	blood:	n/a	n/a
9	ATF3	chr7:102105052-102105541	A549	lung:	n/a	chr7:102105134-102105143
10	ATF3	chr7:102312099-102312242	K562	blood:	n/a	chr7:102312144-102312152
11	ATF3	chr7:102105079-102105666	K562	blood:	n/a	chr7:102105134-102105143
12	ATF3	chr7:102105156-102105479	HepG2	liver:	n/a	n/a
13	ATF3	chr7:102312022-102312401	A549	lung:	n/a	chr7:102312144-102312152
14	BACH1	chr7:102105195-102105583	K562	blood:	n/a	n/a
15	BACH1	chr7:102105152-102105627	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr7:102213021-102213172	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr7:102157223-102157674	GM12878	blood:	n/a	n/a
18	BATF	chr7:102179720-102179981	GM12878	blood:	n/a	n/a
19	BATF	chr7:102310144-102310402	GM12878	blood:	n/a	n/a
20	BATF	chr7:102254118-102255225	GM12878	blood:	n/a	n/a
21	BATF	chr7:102293584-102293766	GM12878	blood:	n/a	n/a
22	BATF	chr7:102291963-102292217	GM12878	blood:	n/a	n/a
23	BATF	chr7:102285771-102286300	GM12878	blood:	n/a	chr7:102286082-102286093
24	BATF	chr7:102254253-102254722	GM12878	blood:	n/a	n/a
25	BATF	chr7:102305017-102305524	GM12878	blood:	n/a	n/a
26	BATF	chr7:102152206-102152651	GM12878	blood:	n/a	n/a
27	BATF	chr7:102313180-102313439	GM12878	blood:	n/a	n/a
28	BATF	chr7:102256202-102256653	GM12878	blood:	n/a	n/a
29	BATF	chr7:102207398-102207660	GM12878	blood:	n/a	n/a
30	BATF	chr7:102167226-102167423	GM12878	blood:	n/a	n/a
31	BATF	chr7:102192870-102193124	GM12878	blood:	n/a	n/a
32	BATF	chr7:102106969-102107235	GM12878	blood:	n/a	chr7:102107141-102107152
33	BATF	chr7:102278880-102279149	GM12878	blood:	n/a	n/a
34	BATF	chr7:102153892-102154083	GM12878	blood:	n/a	n/a
35	BATF	chr7:102257362-102257620	GM12878	blood:	n/a	n/a
36	BATF	chr7:102134745-102135058	GM12878	blood:	n/a	n/a
37	BATF	chr7:102205933-102206440	GM12878	blood:	n/a	n/a
38	BATF	chr7:102155784-102156059	GM12878	blood:	n/a	n/a
39	BATF	chr7:102306478-102306740	GM12878	blood:	n/a	n/a
40	BATF	chr7:102117804-102118098	GM12878	blood:	n/a	n/a
41	BATF	chr7:102117408-102117666	GM12878	blood:	n/a	n/a
42	BATF	chr7:102247244-102247556	GM12878	blood:	n/a	n/a
43	BATF	chr7:102286810-102287040	GM12878	blood:	n/a	n/a
44	BATF	chr7:102252871-102253062	GM12878	blood:	n/a	n/a
45	BATF	chr7:102214085-102214343	GM12878	blood:	n/a	n/a
46	BATF	chr7:102233914-102234227	GM12878	blood:	n/a	n/a
47	BATF	chr7:102234392-102234834	GM12878	blood:	n/a	n/a
48	BATF	chr7:102185510-102186196	GM12878	blood:	n/a	n/a
49	BATF	chr7:102284765-102285178	GM12878	blood:	n/a	n/a
50	BATF	chr7:102148082-102148394	GM12878	blood:	n/a	n/a

(count:2808 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:102308061-102308111	K562	blood:	n/a
2	chr7:102327236-102327286	HUVEC	blood vessel:	n/a
3	chr7:102308061-102308111	K562	blood:	n/a
4	chr7:102327236-102327286	HUVEC	blood vessel:	n/a
5	chr7:102136524-102136574	MCF10A-Er-Src	breast:	n/a
6	chr7:102105124-102105174	GM19239	blood:	n/a
7	chr7:102279588-102279638	ECC-1	luminal epithelium:	n/a
8	chr7:102109095-102109145	AG04450	lung:	fetal
9	chr7:102196182-102196232	GM19239	blood:	n/a
10	chr7:102105781-102105831	HRPEpiC	eye:	n/a
11	chr7:102136524-102136574	HPAEpiC	pulmonary alveolar:	n/a
12	chr7:102132012-102132062	CMK	blood:	n/a
13	chr7:102105256-102105306	Jurkat	blood:	n/a
14	chr7:102105195-102105245	NH-A	brain:	n/a
15	chr7:102109247-102109297	AG04449	skin:	fetal
16	chr7:102246378-102246428	HepG2	liver:	n/a
17	chr7:102109095-102109145	HRE	kidney:	n/a
18	chr7:102259241-102259291	HCT-116	colon:	n/a
19	chr7:102259241-102259291	H1-hESC	embryonic stem cell:	embryo
20	chr7:102105256-102105306	BJ	skin:	n/a
21	chr7:102119710-102119760	Jurkat	blood:	n/a
22	chr7:102212892-102212942	HEEpiC	esophagus:	n/a
23	chr7:102151231-102151281	MCF10A-Er-Src	breast:	n/a
24	chr7:102105781-102105831	Jurkat	blood:	n/a
25	chr7:102109247-102109297	GM19239	blood:	n/a
26	chr7:102312315-102312365	HNPCEpiC	eye:	n/a
27	chr7:102105201-102105251	AG09319	gingival:	n/a
28	chr7:102105195-102105245	HCF	heart:	n/a
29	chr7:102119453-102119503	GM06990	blood:	n/a
30	chr7:102122352-102122402	HUVEC	blood vessel:	n/a
31	chr7:102119710-102119760	Hepatocyte	liver:	n/a
32	chr7:102105195-102105245	Hela-S3	cervix:	n/a
33	chr7:102118300-102118350	GM19239	blood:	n/a
34	chr7:102311965-102312015	Hepatocyte	liver:	n/a
35	chr7:102109247-102109297	PFSK-1	brain:	n/a
36	chr7:102136524-102136574	HIPEpiC	eye:	n/a
37	chr7:102105781-102105831	HCPEpiC	choroid plexus:	n/a
38	chr7:102312200-102312250	NHDF-neo	bronchial:	n/a
39	chr7:102196182-102196232	HNPCEpiC	eye:	n/a
40	chr7:102104807-102104857	NH-A	brain:	n/a
41	chr7:102105205-102105255	PFSK-1	brain:	n/a
42	chr7:102104916-102104966	AG04449	skin:	fetal
43	chr7:102313412-102313462	U87	brain:	n/a
44	chr7:102134668-102134718	HCT-116	colon:	n/a
45	chr7:102118300-102118350	AoSMC	blood vessel:	n/a
46	chr7:102105256-102105306	HCPEpiC	choroid plexus:	n/a
47	chr7:102105781-102105831	U87	brain:	n/a
48	chr7:102136524-102136574	SK-N-SH	brain:	n/a
49	chr7:102109446-102109496	GM12892	blood:	n/a
50	chr7:102105256-102105306	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:102073875..102075484-chr7:102103725..102106348,2	MCF-7	breast:
2	chr16:90039038..90039558-chr7:102105289..102105810,2	Hela-S3	cervix:
3	chr7:102085730..102086410-chr7:102110585..102111557,2	K562	blood:
4	chr7:102074336..102076927-chr7:102105688..102108273,2	K562	blood:
5	chr6:82462024..82463020-chr7:102105257..102105953,2	NB4	blood:
6	chr10:12391000..12393664-chr7:102102754..102105293,2	MCF-7	breast:
7	chr7:102035604..102038403-chr7:102105375..102107150,2	K562	blood:
8	chr7:102110628..102112535-chr8:144951000..144953117,2	MCF-7	breast:
9	chr7:102095105..102097142-chr7:102112791..102114354,2	K562	blood:
10	chr7:101935058..101937626-chr7:102103527..102105838,2	MCF-7	breast:
11	chr7:102110592..102113197-chr7:102117853..102119354,2	MCF-7	breast:
12	chr7:101929851..101931493-chr7:102106221..102107741,2	MCF-7	breast:
13	chr7:102110592..102113197-chr7:102117853..102119354,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR2J-1	chr7:102120179-102121095	NONHSAT122510

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4467	chr7:102111919-102111940	MIMAT0018994
hsa-miR-5090	chr7:102106199-102106221	MIMAT0021082

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RASA4	hsa-miR-335-5p	chr7:102128407-102128431
2	RASA4	hsa-miR-335-5p	chr7:102227581-102227605

Variant related genes	Relation type
ENSG00000270249	TF binding region
RASA4B	TF binding region
ENSG00000272949	TF binding region
MIR5090	TF binding region
ENSG00000205236	TF binding region
MIR4467	TF binding region
LRWD1	TF binding region
POLR2J	TF binding region
ENSG00000228049	TF binding region
ENSG00000238997	TF binding region
ALKBH4	TF binding region
UPK3BL	TF binding region
POLR2J2	TF binding region
SPDYE2	TF binding region
ENSG00000271745	TF binding region
RASA4	TF binding region
POLR2J3	TF binding region
SPDYE2B	TF binding region
ENSG00000256604	TF binding region
ENSG00000238392	TF binding region
ENSG00000270249	CpG island
RASA4B	CpG island
ENSG00000272949	CpG island
MIR5090	CpG island
ENSG00000205236	CpG island
MIR4467	CpG island
LRWD1	CpG island
POLR2J	CpG island
ENSG00000228049	CpG island
ENSG00000238997	CpG island
ALKBH4	CpG island
UPK3BL	CpG island
POLR2J2	CpG island
SPDYE2	CpG island
ENSG00000271745	CpG island
RASA4	CpG island
POLR2J3	CpG island
SPDYE2B	CpG island
ENSG00000256604	CpG island
ENSG00000238392	CpG island
ENSG00000160991	chromatin interactions
ENSG00000264675	chromatin interactions
ENSG00000239480	chromatin interactions
ENSG00000112773	chromatin interactions
ENSG00000183049	chromatin interactions
ENSG00000223959	chromatin interactions
ENSG00000227184	chromatin interactions
ENSG00000005075	chromatin interactions
ENSG00000264471	chromatin interactions
ENSG00000128563	chromatin interactions

Extended variants
information (count: 2991 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2991 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573301914	chr7:102104794-102104795	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs186674590	chr7:102104808-102104809	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs567008450	chr7:102104864-102104865	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs139673868	chr7:102104876-102104877	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs116964296	chr7:102104934-102104935	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs573873515	chr7:102104990-102104991	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs573720460	chr7:102105024-102105025	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs537571849	chr7:102105031-102105032	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs370451457	chr7:102105047-102105048	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs149997198	chr7:102105051-102105052	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs199521113	chr7:102105150-102105151	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs139740413	chr7:102105196-102105197	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs143763401	chr7:102105207-102105208	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs202159964	chr7:102105234-102105235	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs369553659	chr7:102105236-102105237	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs372579394	chr7:102105238-102105239	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs531508990	chr7:102105256-102105257	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs544736620	chr7:102105268-102105269	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs562930786	chr7:102105274-102105275	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs533366262	chr7:102105286-102105287	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs377352749	chr7:102105296-102105297	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs566849414	chr7:102105308-102105309	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs528003540	chr7:102105314-102105315	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs145261595	chr7:102105327-102105328	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs566128911	chr7:102105354-102105355	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs567535064	chr7:102105367-102105368	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs372975031	chr7:102105369-102105370	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs538008794	chr7:102105384-102105385	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs149128939	chr7:102105415-102105416	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs553639545	chr7:102105495-102105496	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs555840431	chr7:102105510-102105511	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs192443701	chr7:102105516-102105517	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs79978502	chr7:102105566-102105567	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs553520557	chr7:102105593-102105594	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs571987032	chr7:102105617-102105618	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs113009525	chr7:102105620-102105621	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs542580225	chr7:102105671-102105672	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs142288913	chr7:102105682-102105683	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs576315564	chr7:102105704-102105705	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs543596956	chr7:102105713-102105714	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs565070541	chr7:102105714-102105715	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs375932908	chr7:102105782-102105783	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs533306289	chr7:102105789-102105790	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs118047026	chr7:102105828-102105829	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
45	rs10953367	chr7:102105916-102105917	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576550297	chr7:102105936-102105937	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs10953368	chr7:102105984-102105985	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs542769824	chr7:102106013-102106014	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs73712497	chr7:102106050-102106051	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560838083	chr7:102106055-102106056	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
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
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Bipolar disorder	19114987	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:2125 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102104000-102104800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:102104000-102104800	Flanking Active TSS	Dnd41	blood
3	chr7:102104000-102105000	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr7:102104000-102105000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:102104000-102105200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr7:102104000-102105400	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr7:102104000-102106200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:102104000-102106400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr7:102104200-102104800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr7:102104200-102104800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:102104200-102104800	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr7:102104200-102104800	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr7:102104200-102104800	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr7:102104200-102104800	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr7:102104200-102104800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr7:102104200-102104800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:102104200-102104800	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr7:102104200-102104800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:102104200-102104800	Flanking Active TSS	Fetal Brain Male	brain
20	chr7:102104200-102104800	Flanking Active TSS	Fetal Brain Female	brain
21	chr7:102104200-102104800	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr7:102104200-102104800	Flanking Active TSS	Fetal Lung	lung
23	chr7:102104200-102104800	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr7:102104200-102104800	Flanking Active TSS	Right Ventricle	heart
25	chr7:102104200-102104800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr7:102104200-102104800	Enhancers	Spleen	Spleen
27	chr7:102104200-102104800	Flanking Active TSS	Hela-S3	cervix
28	chr7:102104200-102104800	Flanking Active TSS	NHEK	skin
29	chr7:102104200-102105000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr7:102104200-102105000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr7:102104200-102105000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:102104200-102105000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:102104200-102105000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr7:102104200-102105000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr7:102104200-102105000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr7:102104200-102105000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:102104200-102105000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr7:102104200-102105200	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr7:102104200-102105200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr7:102104200-102105200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:102104200-102105200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:102104200-102105200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:102104200-102105200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:102104200-102105800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:102104200-102106000	Active TSS	Fetal Kidney	kidney
46	chr7:102104200-102106200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:102104200-102106200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr7:102104200-102106400	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr7:102104200-102106400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr7:102104200-102106400	Active TSS	HUES6 Cell Line	embryonic stem cell

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