Variant report

Variant	rs375096444
Chromosome Location	chr7:5631943-5631944
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	CHD1	chr7:5631009-5636685	IMR90	lung:	n/a	chr7:5633559-5633569 chr7:5633779-5633789 chr7:5634268-5634278 chr7:5634031-5634041 chr7:5632211-5632221
2	CTCF	chr7:5631658-5631973	K562	blood:	n/a	chr7:5631703-5631712 chr7:5631700-5631718 chr7:5631703-5631716 chr7:5631702-5631723
3	SMARCC1	chr7:5631037-5632048	Hela-S3	cervix:	n/a	n/a
4	ZNF143	chr7:5631758-5632563	H1-hESC	embryonic stem cell:	n/a	chr7:5631927-5631945
5	SMARCB1	chr7:5631057-5636588	Hela-S3	cervix:	n/a	n/a
6	SP1	chr7:5630941-5631979	A549	lung:	n/a	chr7:5631090-5631100 chr7:5631437-5631447 chr7:5631479-5631493
7	TCF12	chr7:5631002-5633216	A549	lung:	n/a	chr7:5631342-5631350
8	HMGN3	chr7:5631860-5634773	K562	blood:	n/a	n/a
9	ELF1	chr7:5631025-5633525	GM12878	blood:	n/a	n/a
10	SIN3A	chr7:5631708-5636356	H1-hESC	embryonic stem cell:	n/a	chr7:5634020-5634031 chr7:5634155-5634166 chr7:5631844-5631855 chr7:5636064-5636077 chr7:5634416-5634429
11	MAFK	chr7:5631164-5632657	Hela-S3	cervix:	n/a	chr7:5631755-5631765 chr7:5631407-5631422
12	MXI1	chr7:5630851-5636675	IMR90	lung:	n/a	n/a
13	REST	chr7:5631714-5635616	H1-neurons	neurons:	n/a	chr7:5631945-5631959 chr7:5635601-5635614 chr7:5631899-5631919 chr7:5633778-5633791 chr7:5632173-5632182 chr7:5632171-5632184 chr7:5632356-5632369 chr7:5633601-5633614 chr7:5634850-5634863
14	RFX5	chr7:5630939-5632667	Hela-S3	cervix:	n/a	chr7:5631324-5631339 chr7:5631099-5631108 chr7:5631096-5631110
15	PML	chr7:5631678-5633210	GM12878	blood:	n/a	n/a
16	GABPA	chr7:5631631-5632696	K562	blood:	n/a	chr7:5632501-5632515
17	PBX3	chr7:5630745-5632036	SK-N-SH	brain:	n/a	chr7:5631036-5631056
18	MAZ	chr7:5630729-5633312	IMR90	lung:	n/a	n/a
19	BACH1	chr7:5631346-5632017	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:5631934-5631943	GM12878	blood:	n/a	n/a
21	TEAD4	chr7:5630741-5632013	SK-N-SH	brain:	n/a	n/a
22	TBP	chr7:5631021-5632676	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:5631924-5637018	K562	blood:	n/a	n/a
24	CREB1	chr7:5631921-5632782	A549	lung:	n/a	chr7:5632395-5632408
25	MXI1	chr7:5630305-5637022	SK-N-SH	brain:	n/a	n/a
26	TCF12	chr7:5630256-5632776	SK-N-SH	brain:	n/a	chr7:5631342-5631350
27	POLR2A	chr7:5631911-5633218	MCF-7	breast:	n/a	n/a
28	ZBTB7A	chr7:5630975-5633259	K562	blood:	n/a	n/a
29	HCFC1	chr7:5630655-5633320	Hela-S3	cervix:	n/a	n/a
30	MAX	chr7:5631896-5633239	ECC-1	luminal epithelium:	n/a	n/a
31	RCOR1	chr7:5631034-5632668	Hela-S3	cervix:	n/a	n/a
32	RCOR1	chr7:5631880-5633043	K562	blood:	n/a	n/a
33	JUND	chr7:5631844-5632610	H1-hESC	embryonic stem cell:	n/a	chr7:5632397-5632406
34	TEAD4	chr7:5631834-5633033	K562	blood:	n/a	n/a
35	ZNF143	chr7:5631466-5632697	K562	blood:	n/a	chr7:5631927-5631945
36	RCOR1	chr7:5630740-5633749	IMR90	lung:	n/a	n/a
37	STAT5A	chr7:5631061-5633054	GM12878	blood:	n/a	n/a
38	ZBTB7A	chr7:5630949-5632673	ECC-1	luminal epithelium:	n/a	n/a
39	MTA3	chr7:5631645-5631989	GM12878	blood:	n/a	n/a
40	MAZ	chr7:5630939-5632699	Hela-S3	cervix:	n/a	n/a
41	MAX	chr7:5630932-5633304	Hela-S3	cervix:	n/a	n/a
42	MAX	chr7:5631927-5632756	SK-N-SH	brain:	n/a	n/a
43	MAZ	chr7:5631067-5633078	K562	blood:	n/a	n/a
44	POLR2A	chr7:5631119-5632803	K562	blood:	n/a	n/a
45	RAD21	chr7:5631555-5632802	H1-hESC	embryonic stem cell:	n/a	chr7:5631701-5631720 chr7:5631702-5631711
46	JUN	chr7:5630735-5633035	K562	blood:	n/a	chr7:5632393-5632406 chr7:5631698-5631706 chr7:5631513-5631522 chr7:5632397-5632406 chr7:5631514-5631523 chr7:5631753-5631765 chr7:5631512-5631521
47	POLR2A	chr7:5631754-5633505	HepG2	liver:	n/a	n/a
48	RUNX3	chr7:5631896-5633306	GM12878	blood:	n/a	n/a
49	ESRRA	chr7:5631785-5632978	GM12878	blood:	n/a	chr7:5632460-5632473 chr7:5632119-5632129 chr7:5632368-5632381
50	CBX3	chr7:5631815-5632200	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5595916..5598684-chr7:5631829..5634716,2	MCF-7	breast:
2	chr7:5631934..5632617-chr7:45025878..45026487,2	NB4	blood:
3	chr7:5551336..5555391-chr7:5631153..5637818,11	K562	blood:
4	chr7:5568810..5571119-chr7:5631190..5634069,5	MCF-7	breast:
5	chr7:5631406..5634130-chr7:5717559..5720896,4	K562	blood:
6	chr7:5601206..5603452-chr7:5630242..5632933,3	MCF-7	breast:
7	chr7:5630491..5634130-chr7:5717559..5720896,4	K562	blood:
8	chr7:5601103..5603390-chr7:5631508..5633975,3	MCF-7	breast:
9	chr7:5631641..5634228-chr7:6097200..6099216,2	K562	blood:
10	chr7:5534332..5536229-chr7:5631160..5633619,2	MCF-7	breast:
11	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:
12	chr7:5535012..5537544-chr7:5631683..5634179,2	MCF-7	breast:
13	chr7:5467671..5469912-chr7:5631901..5634167,2	MCF-7	breast:
14	chr7:5533112..5541360-chr7:5629989..5636364,13	K562	blood:

Variant related genes	Relation type
FSCN1	TF binding region
ENSG00000273084	Chromatin interaction
ENSG00000272719	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000237738	Chromatin interaction
ENSG00000086232	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000232956	Chromatin interaction
ENSG00000155034	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	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
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
22	esv3411018	chr7:5630951-5633799	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5629400-5632400	Enhancers	Primary hematopoietic stem cells	blood
2	chr7:5629600-5632000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr7:5629800-5632400	Enhancers	Spleen	Spleen
4	chr7:5630400-5633200	Enhancers	Fetal Heart	heart
5	chr7:5630600-5632400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:5630800-5632000	Enhancers	NHDF-Ad	bronchial
7	chr7:5631000-5632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:5631000-5632000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:5631000-5632000	Bivalent Enhancer	Fetal Stomach	stomach
10	chr7:5631000-5632000	Enhancers	Left Ventricle	heart
11	chr7:5631000-5632000	Enhancers	Ovary	ovary
12	chr7:5631000-5632200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:5631000-5632200	Flanking Active TSS	A549	lung
14	chr7:5631000-5632200	Flanking Active TSS	Hela-S3	cervix
15	chr7:5631000-5632200	Flanking Active TSS	HSMM	muscle
16	chr7:5631000-5632400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr7:5631000-5632400	Enhancers	Lung	lung
18	chr7:5631200-5632000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:5631200-5632000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr7:5631200-5632000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr7:5631200-5632000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:5631200-5632000	Enhancers	Aorta	Aorta
23	chr7:5631200-5632000	Enhancers	Brain Germinal Matrix	brain
24	chr7:5631200-5632000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:5631200-5632000	Bivalent Enhancer	Placenta	Placenta
26	chr7:5631200-5632000	Enhancers	Right Atrium	heart
27	chr7:5631200-5632000	Enhancers	Right Ventricle	heart
28	chr7:5631200-5632200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:5631200-5632200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:5631200-5632200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr7:5631200-5632200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:5631200-5632200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr7:5631200-5632200	Flanking Active TSS	K562	blood
34	chr7:5631200-5632200	Flanking Active TSS	NH-A	brain
35	chr7:5631200-5632400	Enhancers	Fetal Lung	lung
36	chr7:5631200-5632400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr7:5631200-5632600	Enhancers	Fetal Brain Male	brain
38	chr7:5631200-5633000	Flanking Active TSS	Osteobl	bone
39	chr7:5631200-5633800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:5631200-5634600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:5631200-5636200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr7:5631200-5636800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:5631400-5632000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:5631400-5632000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:5631400-5632200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr7:5631400-5632400	Bivalent Enhancer	Fetal Thymus	thymus
47	chr7:5631600-5632000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:5631600-5632000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:5631600-5632000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:5631600-5632000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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