Variant report

Variant	rs529158359
Chromosome Location	chr7:97910975-97910976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr7:97910737-97911081	HCT-116	colon:	n/a	chr7:97910794-97910810 chr7:97910908-97910919 chr7:97910791-97910807 chr7:97910825-97910841
2	POLR2A	chr7:97910888-97911222	ProgFib	skin:	n/a	n/a
3	POLR2A	chr7:97910874-97911491	Hela-S3	cervix:	n/a	n/a
4	USF1	chr7:97910691-97911063	ECC-1	luminal epithelium:	n/a	chr7:97910794-97910810 chr7:97910908-97910919 chr7:97910791-97910807 chr7:97910825-97910841
5	YY1	chr7:97910734-97911199	HepG2	liver:	n/a	chr7:97910753-97910762 chr7:97910798-97910807 chr7:97910827-97910841 chr7:97910824-97910838 chr7:97910846-97910860 chr7:97910796-97910807
6	POLR2A	chr7:97910921-97911187	Gliobla	brain:	n/a	n/a
7	USF1	chr7:97910767-97911060	SK-N-SH_RA	brain:	n/a	chr7:97910794-97910810 chr7:97910908-97910919 chr7:97910791-97910807 chr7:97910825-97910841
8	USF1	chr7:97910394-97911053	ECC-1	luminal epithelium:	n/a	chr7:97910794-97910810 chr7:97910487-97910503 chr7:97910908-97910919 chr7:97910791-97910807 chr7:97910825-97910841
9	FOXP2	chr7:97910673-97911171	PFSK-1	brain:	n/a	n/a
10	MAX	chr7:97910348-97912900	Hela-S3	cervix:	n/a	chr7:97910754-97910764 chr7:97910614-97910624 chr7:97910942-97910952 chr7:97912761-97912772 chr7:97910599-97910609
11	TAF1	chr7:97910863-97911225	HepG2	liver:	n/a	n/a
12	USF1	chr7:97910740-97911041	HepG2	liver:	n/a	chr7:97910794-97910810 chr7:97910908-97910919 chr7:97910791-97910807 chr7:97910825-97910841
13	EGR1	chr7:97910831-97911025	GM12878	blood:	n/a	chr7:97910848-97910858 chr7:97910902-97910916 chr7:97910941-97910951
14	SP1	chr7:97910217-97911025	A549	lung:	n/a	chr7:97910938-97910952 chr7:97910750-97910759 chr7:97910751-97910760 chr7:97910804-97910813 chr7:97910803-97910812 chr7:97910676-97910690 chr7:97910624-97910638 chr7:97910799-97910813 chr7:97910613-97910625 chr7:97910596-97910608 chr7:97910802-97910814 chr7:97910807-97910819 chr7:97910615-97910624 chr7:97910614-97910624 chr7:97910597-97910611 chr7:97910942-97910951 chr7:97910758-97910767 chr7:97910596-97910608 chr7:97910749-97910761 chr7:97910597-97910606 chr7:97910614-97910628 chr7:97910598-97910607 chr7:97910802-97910814 chr7:97910858-97910865 chr7:97910804-97910813 chr7:97910597-97910607 chr7:97910614-97910623 chr7:97910749-97910761 chr7:97910613-97910625 chr7:97910597-97910606 chr7:97910597-97910607
15	BHLHE40	chr7:97910134-97911092	GM12878	blood:	n/a	chr7:97910794-97910810 chr7:97910241-97910257 chr7:97910487-97910503 chr7:97910791-97910807 chr7:97910825-97910841
16	TBP	chr7:97910908-97911002	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:97910110-97911673	HepG2	liver:	n/a	n/a
18	EGR1	chr7:97910748-97911014	GM12878	blood:	n/a	chr7:97910848-97910858 chr7:97910753-97910763 chr7:97910756-97910766 chr7:97910902-97910916 chr7:97910941-97910951 chr7:97910798-97910808
19	HMGN3	chr7:97910841-97911098	K562	blood:	n/a	n/a
20	ZBTB7A	chr7:97910886-97911099	K562	blood:	n/a	n/a
21	PAX5	chr7:97910754-97911054	GM12892	blood:	n/a	n/a
22	MAX	chr7:97910681-97911680	K562	blood:	n/a	chr7:97910754-97910764 chr7:97910942-97910952
23	ATF3	chr7:97910805-97911053	GM12878	blood:	n/a	chr7:97910851-97910860
24	POLR2A	chr7:97910885-97911182	Hela-S3	cervix:	n/a	n/a
25	E2F6	chr7:97910817-97911060	K562	blood:	n/a	chr7:97910830-97910839
26	POLR2A	chr7:97910147-97911486	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:97910160-97911781	GM19193	blood:	n/a	n/a
28	POLR2A	chr7:97910229-97911168	HCT-116	colon:	n/a	n/a
29	BHLHE40	chr7:97910772-97911094	K562	blood:	n/a	chr7:97910794-97910810 chr7:97910791-97910807 chr7:97910825-97910841
30	POLR2A	chr7:97910842-97911420	K562	blood:	n/a	n/a
31	TAF1	chr7:97910770-97911149	ECC-1	luminal epithelium:	n/a	n/a
32	USF1	chr7:97910813-97911014	GM12878	blood:	n/a	chr7:97910908-97910919 chr7:97910825-97910841
33	POLR2A	chr7:97910312-97911139	K562	blood:	n/a	n/a
34	ZNF143	chr7:97910242-97910999	GM12878	blood:	n/a	chr7:97910589-97910607 chr7:97910672-97910690
35	MAX	chr7:97909937-97911150	MCF-7	breast:	n/a	chr7:97910754-97910764 chr7:97910614-97910624 chr7:97910942-97910952 chr7:97910599-97910609
36	HEY1	chr7:97910914-97911165	HepG2	liver:	n/a	n/a
37	ELF1	chr7:97910630-97911031	K562	blood:	n/a	chr7:97910826-97910835 chr7:97910796-97910808 chr7:97910793-97910805
38	POLR2A	chr7:97910261-97911551	GM18526	blood:	n/a	n/a
39	MAZ	chr7:97910232-97911119	GM12878	blood:	n/a	chr7:97910754-97910764 chr7:97910614-97910624 chr7:97910942-97910952 chr7:97910599-97910609
40	PBX3	chr7:97910147-97911102	SK-N-SH	brain:	n/a	chr7:97910413-97910433
41	POLR2A	chr7:97910238-97911202	H1-neurons	neurons:	n/a	n/a
42	MYC	chr7:97910947-97911218	MCF-7	breast:	n/a	n/a
43	HA-E2F1	chr7:97910648-97911670	Hela-S3	cervix:	n/a	chr7:97910830-97910839 chr7:97911649-97911656 chr7:97911385-97911395 chr7:97911648-97911660 chr7:97911270-97911279 chr7:97911649-97911656 chr7:97910798-97910807 chr7:97910796-97910806 chr7:97911649-97911656
44	TCF7L2	chr7:97910252-97911174	HCT-116	colon:	n/a	n/a
45	ATF3	chr7:97910828-97910981	GM12878	blood:	n/a	chr7:97910851-97910860
46	POLR2A	chr7:97910251-97911146	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr7:97910170-97911723	GM12892	blood:	n/a	n/a
48	USF1	chr7:97910624-97911117	H1-hESC	embryonic stem cell:	n/a	chr7:97910794-97910810 chr7:97910908-97910919 chr7:97910791-97910807 chr7:97910825-97910841
49	POLR2A	chr7:97910300-97911650	GM19099	blood:	n/a	n/a
50	USF1	chr7:97910754-97911353	SK-N-SH_RA	brain:	n/a	chr7:97910794-97910810 chr7:97910908-97910919 chr7:97910791-97910807 chr7:97910825-97910841

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97880609..97882891-chr7:97909884..97913133,3	MCF-7	breast:
2	chr5:137673487..137674011-chr7:97910467..97911354,2	HCT-116	colon:

Variant related genes	Relation type
BRI3	TF binding region
ENSG00000205356	Chromatin interaction
ENSG00000164713	Chromatin interaction
ENSG00000120709	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	esv1802449	chr7:97900191-97929668	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	esv3344573	chr7:97909166-97912264	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3441380	chr7:97909641-97912189	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3422518	chr7:97910041-97912589	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97909800-97911400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:97909800-97911600	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr7:97909800-97911600	Active TSS	Primary T cells from cord blood	blood
4	chr7:97909800-97911800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:97909800-97911800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:97909800-97911800	Active TSS	Fetal Brain Female	brain
7	chr7:97909800-97911800	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:97909800-97912000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:97909800-97912000	Active TSS	Brain Germinal Matrix	brain
10	chr7:97909800-97912000	Active TSS	Colon Smooth Muscle	Colon
11	chr7:97909800-97914200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:97910000-97911600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:97910000-97911800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr7:97910000-97911800	Active TSS	Psoas Muscle	Psoas
15	chr7:97910000-97911800	Active TSS	Right Ventricle	heart
16	chr7:97910000-97912000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:97910000-97912000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr7:97910000-97912200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:97910000-97912200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:97910000-97912400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:97910000-97912600	Active TSS	Ovary	ovary
22	chr7:97910000-97912800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:97910000-97913000	Active TSS	Right Atrium	heart
24	chr7:97910000-97913800	Active TSS	Aorta	Aorta
25	chr7:97910000-97914200	Active TSS	HSMMtube	muscle
26	chr7:97910200-97911600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:97910200-97911600	Active TSS	K562	blood
28	chr7:97910200-97911800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:97910200-97911800	Active TSS	Brain Anterior Caudate	brain
30	chr7:97910200-97911800	Active TSS	Small Intestine	intestine
31	chr7:97910200-97911800	Active TSS	Spleen	Spleen
32	chr7:97910200-97911800	Active TSS	HepG2	liver
33	chr7:97910200-97912000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:97910200-97912000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:97910200-97912200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:97910200-97912200	Active TSS	Esophagus	oesophagus
37	chr7:97910200-97912600	Active TSS	Pancreas	Pancrea
38	chr7:97910200-97913000	Active TSS	Gastric	stomach
39	chr7:97910400-97911200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:97910400-97911200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:97910400-97911400	Active TSS	Primary B cells from cord blood	blood
42	chr7:97910400-97911400	Active TSS	Primary B cells from peripheral blood	blood
43	chr7:97910400-97911400	Active TSS	Primary T cells fromperipheralblood	blood
44	chr7:97910400-97911400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr7:97910400-97911400	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr7:97910400-97911400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:97910400-97911400	Active TSS	Colonic Mucosa	Colon
48	chr7:97910400-97911400	Active TSS	Fetal Thymus	thymus
49	chr7:97910400-97911400	Active TSS	Thymus	Thymus
50	chr7:97910400-97911600	Active TSS	H1 Cell Line	embryonic stem cell

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