Variant report

Variant	rs367782481
Chromosome Location	chr7:5631520-5631521
allele	GG/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	EBF1	chr7:5631144-5631633	GM12878	blood:	n/a	chr7:5631418-5631428
2	RAD21	chr7:5631181-5631845	Hela-S3	cervix:	n/a	chr7:5631701-5631720 chr7:5631702-5631711
3	JUND	chr7:5631308-5631548	K562	blood:	n/a	chr7:5631513-5631522 chr7:5631514-5631523 chr7:5631512-5631521
4	EGR1	chr7:5631068-5631911	HCT-116	colon:	n/a	chr7:5631438-5631452 chr7:5631512-5631522 chr7:5631513-5631523 chr7:5631423-5631437 chr7:5631691-5631704
5	CHD1	chr7:5631009-5636685	IMR90	lung:	n/a	chr7:5633559-5633569 chr7:5633779-5633789 chr7:5634268-5634278 chr7:5634031-5634041 chr7:5632211-5632221
6	MAX	chr7:5631171-5631620	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr7:5630820-5631574	SK-N-SH	brain:	n/a	n/a
8	EP300	chr7:5631190-5631587	GM12878	blood:	n/a	n/a
9	CTCF	chr7:5631500-5631650	HUVEC	blood vessel:	n/a	n/a
10	TEAD4	chr7:5631056-5631597	HepG2	liver:	n/a	n/a
11	BRCA1	chr7:5631004-5631679	Hela-S3	cervix:	n/a	n/a
12	SMARCC1	chr7:5631037-5632048	Hela-S3	cervix:	n/a	n/a
13	TEAD4	chr7:5631032-5631690	ECC-1	luminal epithelium:	n/a	n/a
14	RELA	chr7:5631066-5631560	GM19193	blood:	n/a	n/a
15	SMARCB1	chr7:5631057-5636588	Hela-S3	cervix:	n/a	n/a
16	TCF12	chr7:5631252-5631531	GM12878	blood:	n/a	chr7:5631342-5631350
17	STAT1	chr7:5631158-5631583	GM12878	blood:	n/a	n/a
18	SP1	chr7:5630941-5631979	A549	lung:	n/a	chr7:5631090-5631100 chr7:5631437-5631447 chr7:5631479-5631493
19	GATA3	chr7:5630954-5631775	A549	lung:	n/a	n/a
20	TFAP2C	chr7:5630812-5631796	Hela-S3	cervix:	n/a	n/a
21	RELA	chr7:5631179-5631643	GM10847	blood:	n/a	n/a
22	TCF12	chr7:5631002-5633216	A549	lung:	n/a	chr7:5631342-5631350
23	REST	chr7:5631136-5631563	SK-N-SH	brain:	n/a	chr7:5631528-5631542
24	CHD2	chr7:5631068-5631792	Hela-S3	cervix:	n/a	n/a
25	TEAD4	chr7:5630844-5631650	K562	blood:	n/a	n/a
26	RELA	chr7:5631243-5631615	GM15510	blood:	n/a	n/a
27	ELF1	chr7:5631025-5633525	GM12878	blood:	n/a	n/a
28	REST	chr7:5631082-5631563	SK-N-SH	brain:	n/a	chr7:5631528-5631542
29	MAZ	chr7:5631281-5631858	GM12878	blood:	n/a	n/a
30	TEAD4	chr7:5630725-5631817	SK-N-SH	brain:	n/a	n/a
31	RUNX3	chr7:5630755-5631640	GM12878	blood:	n/a	chr7:5631320-5631335
32	TEAD4	chr7:5631075-5631608	H1-hESC	embryonic stem cell:	n/a	n/a
33	EGR1	chr7:5631284-5631576	K562	blood:	n/a	chr7:5631438-5631452 chr7:5631512-5631522 chr7:5631513-5631523 chr7:5631423-5631437
34	SPI1	chr7:5631144-5631647	HL-60	blood:	n/a	chr7:5631405-5631418 chr7:5631405-5631418
35	CTCF	chr7:5631420-5631570	HMF	breast:	n/a	n/a
36	NFIC	chr7:5631119-5631669	GM12878	blood:	n/a	n/a
37	MAFK	chr7:5631164-5632657	Hela-S3	cervix:	n/a	chr7:5631755-5631765 chr7:5631407-5631422
38	BCL11A	chr7:5631268-5631532	GM12878	blood:	n/a	n/a
39	MXI1	chr7:5630851-5636675	IMR90	lung:	n/a	n/a
40	TEAD4	chr7:5631081-5631657	A549	lung:	n/a	n/a
41	MAX	chr7:5630766-5631598	SK-N-SH	brain:	n/a	n/a
42	NFIC	chr7:5630705-5631782	SK-N-SH	brain:	n/a	chr7:5631041-5631058
43	TEAD4	chr7:5631066-5631602	K562	blood:	n/a	n/a
44	RFX5	chr7:5630939-5632667	Hela-S3	cervix:	n/a	chr7:5631324-5631339 chr7:5631099-5631108 chr7:5631096-5631110
45	MAX	chr7:5630974-5631676	A549	lung:	n/a	n/a
46	PAX5	chr7:5631173-5631565	GM12878	blood:	n/a	n/a
47	WRNIP1	chr7:5631466-5631548	GM12878	blood:	n/a	n/a
48	SIN3AK20	chr7:5630743-5631618	SK-N-SH	brain:	n/a	n/a
49	RELA	chr7:5631220-5631686	GM19099	blood:	n/a	n/a
50	GATA3	chr7:5630334-5631762	SK-N-SH	brain:	n/a	chr7:5630637-5630646

No.	Distal block	Cell Line	Cell type
1	chr7:5551336..5555391-chr7:5631153..5637818,11	K562	blood:
2	chr7:5568810..5571119-chr7:5631190..5634069,5	MCF-7	breast:
3	chr7:5631406..5634130-chr7:5717559..5720896,4	K562	blood:
4	chr7:5601206..5603452-chr7:5630242..5632933,3	MCF-7	breast:
5	chr7:5630491..5634130-chr7:5717559..5720896,4	K562	blood:
6	chr7:5601103..5603390-chr7:5631508..5633975,3	MCF-7	breast:
7	chr7:5534332..5536229-chr7:5631160..5633619,2	MCF-7	breast:
8	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:
9	chr7:5533112..5541360-chr7:5629989..5636364,13	K562	blood:

Variant related genes	Relation type
FSCN1	TF binding region
ENSG00000263900	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000237738	Chromatin interaction
ENSG00000155034	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5621000-5631600	Weak transcription	Pancreas	Pancrea
2	chr7:5626200-5631600	Weak transcription	Brain Angular Gyrus	brain
3	chr7:5629400-5631600	Enhancers	Brain Substantia Nigra	brain
4	chr7:5629400-5632400	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:5629600-5631600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:5629600-5631600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:5629600-5632000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr7:5629800-5632400	Enhancers	Spleen	Spleen
9	chr7:5630000-5631600	Weak transcription	Esophagus	oesophagus
10	chr7:5630200-5631600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:5630200-5631800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:5630400-5633200	Enhancers	Fetal Heart	heart
13	chr7:5630600-5631600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:5630600-5632400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:5630800-5631600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:5630800-5631600	Enhancers	GM12878-XiMat	blood
17	chr7:5630800-5631600	Enhancers	HMEC	breast
18	chr7:5630800-5631800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:5630800-5631800	Enhancers	HUVEC	blood vessel
20	chr7:5630800-5632000	Enhancers	NHDF-Ad	bronchial
21	chr7:5631000-5631600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr7:5631000-5631600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:5631000-5631600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:5631000-5631600	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:5631000-5631600	Flanking Active TSS	HepG2	liver
26	chr7:5631000-5631800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr7:5631000-5631800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr7:5631000-5631800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:5631000-5631800	Enhancers	HSMMtube	muscle
30	chr7:5631000-5631800	Enhancers	NHLF	lung
31	chr7:5631000-5632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:5631000-5632000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:5631000-5632000	Bivalent Enhancer	Fetal Stomach	stomach
34	chr7:5631000-5632000	Enhancers	Left Ventricle	heart
35	chr7:5631000-5632000	Enhancers	Ovary	ovary
36	chr7:5631000-5632200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:5631000-5632200	Flanking Active TSS	A549	lung
38	chr7:5631000-5632200	Flanking Active TSS	Hela-S3	cervix
39	chr7:5631000-5632200	Flanking Active TSS	HSMM	muscle
40	chr7:5631000-5632400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr7:5631000-5632400	Enhancers	Lung	lung
42	chr7:5631200-5631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:5631200-5631600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:5631200-5631600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr7:5631200-5631600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:5631200-5631600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:5631200-5631600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:5631200-5631600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:5631200-5631600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr7:5631200-5631800	Enhancers	Adipose Nuclei	Adipose

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