Variant report

Variant	rs116270738
Chromosome Location	chr7:6312634-6312635
allele	A/G
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	POLR2A	chr7:6312039-6312798	SK-N-MC	brain:	n/a	n/a
2	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
3	TAF1	chr7:6311991-6312854	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr7:6312052-6313424	ECC-1	luminal epithelium:	n/a	n/a
5	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
6	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
7	POLR2A	chr7:6312052-6312746	H1-neurons	neurons:	n/a	n/a
8	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
9	CTCF	chr7:6312500-6312650	GM12867	blood:	n/a	n/a
10	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
11	POLR2A	chr7:6312044-6312643	MCF-7	breast:	n/a	n/a
12	ZBTB7A	chr7:6311089-6312643	ECC-1	luminal epithelium:	n/a	n/a
13	ELF1	chr7:6312050-6312785	GM12878	blood:	n/a	chr7:6312321-6312333 chr7:6312387-6312396 chr7:6312336-6312348
14	POLR2A	chr7:6311989-6312758	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr7:6312056-6312698	SK-N-SH	brain:	n/a	n/a
16	E2F6	chr7:6312132-6312785	K562	blood:	n/a	n/a
17	POLR2A	chr7:6311993-6312798	MCF-7	breast:	n/a	n/a
18	EP300	chr7:6312157-6313628	ECC-1	luminal epithelium:	n/a	chr7:6312323-6312339 chr7:6313387-6313397 chr7:6313295-6313308 chr7:6312387-6312396
19	POLR2A	chr7:6312064-6312717	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr7:6311910-6312710	ProgFib	skin:	n/a	n/a
21	MXI1	chr7:6312047-6312832	IMR90	lung:	n/a	chr7:6312308-6312317
22	MAX	chr7:6312141-6312833	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
23	CEBPB	chr7:6312584-6313425	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr7:6312050-6312741	A549	lung:	n/a	n/a
25	SMARCB1	chr7:6311307-6312728	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:6312058-6312646	HL-60	blood:	n/a	n/a
27	MAX	chr7:6312121-6312870	NB4	blood:	n/a	chr7:6312339-6312349 chr7:6312307-6312316 chr7:6312363-6312373 chr7:6312501-6312510 chr7:6312305-6312318 chr7:6312307-6312316 chr7:6312307-6312316
28	MAX	chr7:6312132-6312654	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
29	MAX	chr7:6312064-6312840	HepG2	liver:	n/a	chr7:6312339-6312349 chr7:6312307-6312316 chr7:6312363-6312373 chr7:6312501-6312510 chr7:6312305-6312318 chr7:6312307-6312316 chr7:6312307-6312316
30	MAX	chr7:6312147-6312776	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
31	CTCF	chr7:6312500-6312650	GM12864	blood:	n/a	n/a
32	MAX	chr7:6312163-6312841	SK-N-SH	brain:	n/a	chr7:6312339-6312349 chr7:6312307-6312316 chr7:6312363-6312373 chr7:6312501-6312510 chr7:6312305-6312318 chr7:6312307-6312316 chr7:6312307-6312316
33	ZMIZ1	chr7:6312106-6312634	K562	blood:	n/a	n/a
34	CHD2	chr7:6312308-6312638	GM12878	blood:	n/a	n/a
35	RFX5	chr7:6312476-6312688	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3AK20	chr7:6311457-6312706	PANC-1	pancreas:	n/a	n/a
37	BHLHE40	chr7:6312121-6312920	K562	blood:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318
38	MYC	chr7:6312082-6312903	NB4	blood:	n/a	chr7:6312339-6312349 chr7:6312307-6312316 chr7:6312363-6312373 chr7:6312501-6312510 chr7:6312305-6312318 chr7:6312307-6312316 chr7:6312307-6312316
39	NRF1	chr7:6312130-6312909	SK-N-SH	brain:	n/a	chr7:6312339-6312348
40	POLR2A	chr7:6311892-6312781	MCF-7	breast:	n/a	n/a
41	MAX	chr7:6312102-6312895	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
42	JUND	chr7:6312047-6312869	A549	lung:	n/a	n/a
43	BCL3	chr7:6312217-6312944	A549	lung:	n/a	chr7:6312356-6312369
44	POLR2A	chr7:6311950-6312847	HepG2	liver:	n/a	n/a
45	MTA3	chr7:6312267-6312820	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:6312015-6312635	HEK293	kidney:	n/a	n/a
47	MAX	chr7:6312126-6312638	HepG2	liver:	n/a	chr7:6312339-6312349 chr7:6312307-6312316 chr7:6312363-6312373 chr7:6312501-6312510 chr7:6312305-6312318 chr7:6312307-6312316 chr7:6312307-6312316
48	POLR2A	chr7:6312057-6312700	PANC-1	pancreas:	n/a	n/a
49	CREB1	chr7:6312044-6312700	A549	lung:	n/a	n/a
50	USF2	chr7:6312120-6312779	H1-hESC	embryonic stem cell:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318 chr7:6312306-6312317

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6143403..6145262-chr7:6310829..6313708,2	MCF-7	breast:
2	chr7:6217036..6219726-chr7:6310745..6313246,2	K562	blood:

Variant related genes	Relation type
CYTH3	TF binding region
ENSG00000008256	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6310400-6312800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:6310400-6312800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:6310400-6312800	Active TSS	Aorta	Aorta
4	chr7:6310400-6312800	Active TSS	HSMMtube	muscle
5	chr7:6310800-6312800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:6310800-6312800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:6310800-6312800	Active TSS	Brain Hippocampus Middle	brain
8	chr7:6310800-6312800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:6310800-6312800	Active TSS	Psoas Muscle	Psoas
10	chr7:6310800-6313000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:6311200-6312800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:6311200-6312800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:6311600-6312800	Active TSS	Primary T cells from cord blood	blood
14	chr7:6311600-6313200	Active TSS	Fetal Brain Female	brain
15	chr7:6311800-6312800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr7:6312000-6313000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:6312200-6312800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:6312200-6313000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:6312400-6312800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:6312400-6312800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:6312400-6312800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:6312400-6312800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:6312400-6312800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:6312400-6312800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:6312400-6312800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:6312400-6312800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr7:6312400-6312800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr7:6312400-6312800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr7:6312400-6312800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr7:6312400-6312800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr7:6312400-6312800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr7:6312400-6312800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr7:6312400-6312800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr7:6312400-6312800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr7:6312400-6312800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:6312400-6312800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr7:6312400-6312800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:6312400-6312800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:6312400-6312800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr7:6312400-6312800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:6312400-6312800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:6312400-6312800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:6312400-6312800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:6312400-6312800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:6312400-6312800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr7:6312400-6312800	Flanking Active TSS	Liver	Liver
47	chr7:6312400-6312800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr7:6312400-6312800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr7:6312400-6312800	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr7:6312400-6312800	Flanking Active TSS	Fetal Intestine Small	intestine

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