Variant report

Variant	rs573986236
Chromosome Location	chr7:6312384-6312385
allele	A/C
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	MXI1	chr7:6312176-6312609	GM12878	blood:	n/a	chr7:6312308-6312317
2	HEY1	chr7:6312078-6312613	K562	blood:	n/a	chr7:6312391-6312406 chr7:6312355-6312370
3	TAF1	chr7:6312072-6312528	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:6312031-6312627	K562	blood:	n/a	n/a
5	POLR2A	chr7:6312039-6312798	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr7:6312029-6312579	GM18526	blood:	n/a	n/a
7	USF2	chr7:6312118-6312714	GM12878	blood:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318 chr7:6312306-6312317
8	NRF1	chr7:6312305-6312490	H1-hESC	embryonic stem cell:	n/a	chr7:6312339-6312348
9	TAF1	chr7:6311991-6312854	ECC-1	luminal epithelium:	n/a	n/a
10	REST	chr7:6312093-6312469	SK-N-SH	brain:	n/a	chr7:6312336-6312349 chr7:6312447-6312460
11	POLR2A	chr7:6312058-6312579	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:6312010-6312591	GM12878	blood:	n/a	n/a
13	GABPA	chr7:6312293-6312585	H1-hESC	embryonic stem cell:	n/a	chr7:6312339-6312348
14	UBTF	chr7:6312054-6312552	K562	blood:	n/a	n/a
15	POLR2A	chr7:6312009-6312629	GM15510	blood:	n/a	n/a
16	E2F4	chr7:6312220-6312461	MCF10A-Er-Src	breast:	n/a	chr7:6312269-6312280
17	POLR2A	chr7:6312052-6313424	ECC-1	luminal epithelium:	n/a	n/a
18	USF1	chr7:6312083-6312503	A549	lung:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318
19	HEY1	chr7:6312048-6312581	K562	blood:	n/a	chr7:6312391-6312406 chr7:6312355-6312370
20	MAX	chr7:6312063-6312884	K562	blood:	n/a	chr7:6312339-6312349 chr7:6312307-6312316 chr7:6312363-6312373 chr7:6312501-6312510 chr7:6312305-6312318 chr7:6312307-6312316 chr7:6312307-6312316
21	MAX	chr7:6312232-6312749	H1-hESC	embryonic stem cell:	n/a	chr7:6312339-6312349 chr7:6312307-6312316 chr7:6312363-6312373 chr7:6312501-6312510 chr7:6312305-6312318 chr7:6312307-6312316 chr7:6312307-6312316
22	POLR2A	chr7:6312052-6312746	H1-neurons	neurons:	n/a	n/a
23	USF1	chr7:6312068-6312601	A549	lung:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318
24	USF1	chr7:6312159-6312601	HepG2	liver:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318
25	ATF3	chr7:6312205-6312533	GM12878	blood:	n/a	chr7:6312296-6312316 chr7:6312307-6312327 chr7:6312307-6312316
26	USF1	chr7:6312176-6312556	A549	lung:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318
27	POLR2A	chr7:6311930-6312623	GM12878	blood:	n/a	n/a
28	MAX	chr7:6312018-6313030	A549	lung:	n/a	chr7:6312339-6312349 chr7:6312307-6312316 chr7:6312363-6312373 chr7:6312501-6312510 chr7:6312305-6312318 chr7:6312307-6312316 chr7:6312307-6312316
29	POLR2A	chr7:6312063-6312630	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr7:6312041-6312545	A549	lung:	n/a	n/a
31	MAX	chr7:6312155-6313509	ECC-1	luminal epithelium:	n/a	chr7:6312339-6312349 chr7:6312307-6312316 chr7:6312363-6312373 chr7:6312501-6312510 chr7:6312305-6312318 chr7:6312307-6312316 chr7:6312307-6312316
32	POLR2A	chr7:6312044-6312643	MCF-7	breast:	n/a	n/a
33	RAD21	chr7:6312055-6312562	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZBTB7A	chr7:6311089-6312643	ECC-1	luminal epithelium:	n/a	n/a
35	ELF1	chr7:6312050-6312785	GM12878	blood:	n/a	chr7:6312321-6312333 chr7:6312387-6312396 chr7:6312336-6312348
36	POLR2A	chr7:6312059-6312585	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr7:6311989-6312758	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr7:6312056-6312698	SK-N-SH	brain:	n/a	n/a
39	E2F6	chr7:6312132-6312785	K562	blood:	n/a	n/a
40	USF1	chr7:6312165-6312602	HCT-116	colon:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318
41	TAF1	chr7:6312048-6312505	GM12878	blood:	n/a	n/a
42	SIN3A	chr7:6310613-6312484	H1-hESC	embryonic stem cell:	n/a	chr7:6312356-6312367 chr7:6311679-6311690 chr7:6311901-6311914 chr7:6312308-6312317 chr7:6311878-6311891 chr7:6311849-6311862
43	USF1	chr7:6312162-6312565	A549	lung:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318
44	HEY1	chr7:6312099-6312533	HepG2	liver:	n/a	chr7:6312391-6312406 chr7:6312355-6312370
45	POLR2A	chr7:6311993-6312798	MCF-7	breast:	n/a	n/a
46	EP300	chr7:6312157-6313628	ECC-1	luminal epithelium:	n/a	chr7:6312323-6312339 chr7:6313387-6313397 chr7:6313295-6313308 chr7:6312387-6312396
47	FOS	chr7:6312361-6312396	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:6312014-6312612	K562	blood:	n/a	n/a
49	POLR2A	chr7:6312064-6312717	PANC-1	pancreas:	n/a	n/a
50	CHD2	chr7:6312329-6312506	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6310725..6312409-chr7:6412991..6414709,2	K562	blood:
2	chr7:6214344..6218044-chr7:6310010..6312416,3	MCF-7	breast:
3	chr7:6143403..6145262-chr7:6310829..6313708,2	MCF-7	breast:
4	chr7:6217036..6219726-chr7:6310745..6313246,2	K562	blood:

Variant related genes	Relation type
CYTH3	TF binding region
ENSG00000238534	Chromatin interaction
ENSG00000008256	Chromatin interaction
ENSG00000136238	Chromatin interaction
ENSG00000106346	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv538715	chr7:6308902-6359025	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1020251	chr7:6309528-6379941	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv3401315	chr7:6311227-6313325	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3322944	chr7:6311727-6312825	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6309800-6312600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:6310200-6312600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:6310400-6312400	Active TSS	Brain Anterior Caudate	brain
4	chr7:6310400-6312400	Active TSS	Right Atrium	heart
5	chr7:6310400-6312600	Active TSS	Brain Cingulate Gyrus	brain
6	chr7:6310400-6312600	Active TSS	Brain Substantia Nigra	brain
7	chr7:6310400-6312600	Active TSS	Ovary	ovary
8	chr7:6310400-6312800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:6310400-6312800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:6310400-6312800	Active TSS	Aorta	Aorta
11	chr7:6310400-6312800	Active TSS	HSMMtube	muscle
12	chr7:6310600-6312400	Active TSS	Brain Angular Gyrus	brain
13	chr7:6310600-6312400	Active TSS	HSMM	muscle
14	chr7:6310600-6312400	Active TSS	NHDF-Ad	bronchial
15	chr7:6310600-6312400	Active TSS	NHLF	lung
16	chr7:6310600-6312600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:6310600-6312600	Active TSS	Colon Smooth Muscle	Colon
18	chr7:6310600-6312600	Active TSS	Fetal Heart	heart
19	chr7:6310800-6312400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:6310800-6312400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:6310800-6312400	Active TSS	HMEC	breast
22	chr7:6310800-6312600	Active TSS	Fetal Kidney	kidney
23	chr7:6310800-6312600	Active TSS	Lung	lung
24	chr7:6310800-6312800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:6310800-6312800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:6310800-6312800	Active TSS	Brain Hippocampus Middle	brain
27	chr7:6310800-6312800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:6310800-6312800	Active TSS	Psoas Muscle	Psoas
29	chr7:6310800-6313000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr7:6311000-6312400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:6311000-6312400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:6311000-6312400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr7:6311000-6312400	Active TSS	Fetal Intestine Large	intestine
34	chr7:6311000-6312400	Active TSS	Placenta	Placenta
35	chr7:6311000-6312400	Active TSS	Fetal Stomach	stomach
36	chr7:6311000-6312600	Active TSS	Left Ventricle	heart
37	chr7:6311000-6312600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr7:6311000-6312600	Active TSS	Right Ventricle	heart
39	chr7:6311200-6312400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:6311200-6312400	Active TSS	Fetal Intestine Small	intestine
41	chr7:6311200-6312600	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr7:6311200-6312600	Active TSS	A549	lung
43	chr7:6311200-6312800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr7:6311200-6312800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:6311400-6312400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:6311400-6312400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:6311400-6312400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:6311400-6312400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:6311400-6312400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr7:6311400-6312400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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