Variant report

Variant	rs539221598
Chromosome Location	chr7:100491881-100491882
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	TBP	chr7:100491838-100492206	K562	blood:	n/a	n/a
2	ELK1	chr7:100491838-100492207	K562	blood:	n/a	n/a
3	CTCF	chr7:100491800-100491950	GM12870	blood:	n/a	n/a
4	ELK1	chr7:100491838-100492206	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:100491682-100492423	PBDE	blood:	n/a	n/a
6	SMC3	chr7:100491838-100492873	GM12878	blood:	n/a	chr7:100492630-100492640
7	NRF1	chr7:100491838-100492206	GM12878	blood:	n/a	n/a
8	BACH1	chr7:100491837-100492206	K562	blood:	n/a	n/a
9	MAZ	chr7:100491834-100492210	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr7:100491721-100493493	SK-N-SH	brain:	n/a	chr7:100492576-100492594 chr7:100492984-100492997 chr7:100493289-100493302 chr7:100492813-100492822 chr7:100492579-100492592
11	RCOR1	chr7:100491841-100492206	GM12878	blood:	n/a	n/a
12	BHLHE40	chr7:100491837-100492207	K562	blood:	n/a	n/a
13	TBL1XR1	chr7:100491838-100492209	K562	blood:	n/a	n/a
14	RCOR1	chr7:100491836-100492209	K562	blood:	n/a	n/a
15	CUX1	chr7:100491870-100492209	GM12878	blood:	n/a	n/a
16	GATA1	chr7:100491612-100492603	PBDE	blood:	n/a	n/a
17	RCOR1	chr7:100491874-100492203	K562	blood:	n/a	n/a
18	RCOR1	chr7:100491838-100492210	Hela-S3	cervix:	n/a	n/a
19	TBL1XR1	chr7:100491837-100492209	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:100491770-100492092	K562	blood:	n/a	n/a
21	ZNF143	chr7:100491838-100492210	Hela-S3	cervix:	n/a	n/a
22	MXI1	chr7:100491836-100492206	GM12878	blood:	n/a	n/a
23	MAZ	chr7:100491836-100492207	K562	blood:	n/a	n/a
24	USF2	chr7:100491877-100492209	GM12878	blood:	n/a	n/a
25	CHD2	chr7:100491838-100492063	HepG2	liver:	n/a	n/a
26	CTCF	chr7:100491740-100491890	GM12875	blood:	n/a	n/a
27	RCOR1	chr7:100491837-100492207	HepG2	liver:	n/a	n/a
28	UBTF	chr7:100491837-100492037	K562	blood:	n/a	n/a
29	CHD2	chr7:100491842-100492211	GM12878	blood:	n/a	n/a
30	BRCA1	chr7:100491836-100492209	GM12878	blood:	n/a	n/a
31	MAX	chr7:100491753-100492043	K562	blood:	n/a	n/a
32	MAX	chr7:100491640-100491983	K562	blood:	n/a	n/a
33	POLR2A	chr7:100491624-100492327	K562	blood:	n/a	n/a
34	TAL1	chr7:100491802-100492140	K562	blood:	n/a	chr7:100491920-100491938
35	ZNF263	chr7:100491766-100491966	HEK293-T-REx	kidney:	n/a	chr7:100491786-100491807
36	ZBTB7A	chr7:100491795-100492010	K562	blood:	n/a	n/a
37	MYC	chr7:100491831-100492031	K562	blood:	n/a	n/a
38	GTF2F1	chr7:100491837-100492209	K562	blood:	n/a	n/a
39	POLR2A	chr7:100491760-100492141	K562	blood:	n/a	n/a
40	RAD21	chr7:100491873-100493134	SK-N-SH	brain:	n/a	chr7:100492577-100492596 chr7:100492582-100492594
41	PRDM1	chr7:100491868-100492206	Hela-S3	cervix:	n/a	chr7:100491886-100491899 chr7:100491886-100491900
42	ELK1	chr7:100491838-100492209	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100491420..100497264-chr7:100607951..100612175,9	K562	blood:
2	chr7:100491227..100493354-chr7:100886184..100889152,2	K562	blood:
3	chr7:100491799..100497264-chr7:100607837..100612175,9	K562	blood:
4	chr7:100490569..100492448-chr7:100550621..100553306,2	MCF-7	breast:
5	chr7:100491373..100494455-chr7:100609680..100612292,3	MCF-7	breast:
6	chr7:100491458..100494589-chr7:100859109..100862606,4	MCF-7	breast:

Variant related genes	Relation type
UFSP1	TF binding region
ACHE	TF binding region
ENSG00000169894	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000225946	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription 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 miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
14	nsv888802	chr7:100484917-100495530	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv607968	chr7:100486035-100492896	Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv888803	chr7:100486656-100497131	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv888804	chr7:100486754-100494202	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv888805	chr7:100486754-100498057	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
19	nsv482110	chr7:100487616-100493541	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
20	nsv888806	chr7:100488407-100495530	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
21	nsv888807	chr7:100490077-100498057	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv888808	chr7:100490981-100498057	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	nsv888809	chr7:100491451-100495530	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100488200-100492600	Weak transcription	Liver	Liver
2	chr7:100488600-100492200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:100488800-100492000	Weak transcription	Gastric	stomach
4	chr7:100488800-100492000	Weak transcription	HSMMtube	muscle
5	chr7:100488800-100492200	Enhancers	Psoas Muscle	Psoas
6	chr7:100488800-100492400	Weak transcription	Lung	lung
7	chr7:100488800-100492400	Weak transcription	Right Atrium	heart
8	chr7:100488800-100492600	Weak transcription	Aorta	Aorta
9	chr7:100488800-100492800	Weak transcription	Small Intestine	intestine
10	chr7:100489000-100492000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:100489000-100492000	Weak transcription	Right Ventricle	heart
12	chr7:100489000-100492400	Weak transcription	Left Ventricle	heart
13	chr7:100489000-100492400	Weak transcription	Pancreas	Pancrea
14	chr7:100489000-100492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:100489000-100492600	Weak transcription	Ovary	ovary
16	chr7:100489200-100492000	Weak transcription	Placenta	Placenta
17	chr7:100489200-100492000	Weak transcription	GM12878-XiMat	blood
18	chr7:100489200-100492200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:100489200-100492200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:100489200-100492400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:100489200-100492800	Weak transcription	Brain Substantia Nigra	brain
22	chr7:100489400-100492000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:100489400-100492000	Weak transcription	A549	lung
24	chr7:100489400-100492000	Weak transcription	Hela-S3	cervix
25	chr7:100489600-100492000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:100490000-100492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:100490000-100492400	Weak transcription	NH-A	brain
28	chr7:100490800-100492200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:100491200-100492000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:100491200-100493600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:100491400-100492000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:100491400-100492400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:100491400-100492600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:100491600-100492000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:100491600-100492000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:100491600-100492200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr7:100491600-100492200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr7:100491600-100492400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:100491600-100493400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:100491800-100492000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr7:100491800-100492000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:100491800-100492000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:100491800-100492000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:100491800-100492000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:100491800-100492000	Active TSS	Brain Cingulate Gyrus	brain
46	chr7:100491800-100492000	Bivalent Enhancer	Fetal Intestine Large	intestine
47	chr7:100491800-100492000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr7:100491800-100492200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr7:100491800-100492200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:100491800-100492200	Enhancers	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links