Variant report

Variant	rs201344558
Chromosome Location	chr7:100488906-100488907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr7:100487386-100488989	K562	blood:	n/a	n/a
2	ZBTB7A	chr7:100487369-100489176	K562	blood:	n/a	n/a
3	POLR2A	chr7:100480317-100488960	GM12878	blood:	n/a	n/a
4	ESRRA	chr7:100486584-100489049	GM12878	blood:	n/a	n/a
5	TEAD4	chr7:100488593-100488936	H1-hESC	embryonic stem cell:	n/a	n/a
6	MTA3	chr7:100488861-100489224	GM12878	blood:	n/a	n/a
7	ELF1	chr7:100487762-100489009	GM12878	blood:	n/a	n/a
8	MAZ	chr7:100486894-100489023	GM12878	blood:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
9	POLR2A	chr7:100480382-100488921	K562	blood:	n/a	n/a
10	POLR2A	chr7:100483381-100489176	H1-hESC	embryonic stem cell:	n/a	n/a
11	HMGN3	chr7:100488722-100488914	K562	blood:	n/a	n/a
12	JUN	chr7:100484978-100489593	K562	blood:	n/a	chr7:100487205-100487219
13	MAZ	chr7:100486228-100489173	IMR90	lung:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
14	SIN3A	chr7:100486813-100489047	H1-hESC	embryonic stem cell:	n/a	chr7:100487091-100487100 chr7:100487052-100487061
15	PML	chr7:100484830-100489204	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:100487514-100489154	K562	blood:	n/a	n/a
17	RUNX3	chr7:100488346-100488954	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:100484627-100488952	GM12878	blood:	n/a	n/a
19	TBP	chr7:100488725-100489253	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr7:100488780-100489223	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:100481005-100489061	K562	blood:	n/a	n/a
22	POLR2A	chr7:100488606-100489129	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr7:100488450-100488944	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr7:100488851-100489278	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100486439..100489230-chr7:100726552..100729974,6	MCF-7	breast:
2	chr7:100424015..100426484-chr7:100488647..100490800,2	K562	blood:
3	chr7:100487624..100489181-chr7:100719587..100722224,2	K562	blood:
4	chr7:100303615..100305529-chr7:100486314..100489038,2	K562	blood:
5	chr7:100485568..100489865-chr7:100727204..100729829,6	MCF-7	breast:
6	chr7:100486144..100489424-chr7:100805467..100808505,5	MCF-7	breast:
7	chr7:100024866..100028113-chr7:100485356..100489963,5	MCF-7	breast:
8	chr7:100487486..100489308-chr7:100879476..100881483,2	K562	blood:
9	chr3:125093829..125095736-chr7:100486331..100489025,2	MCF-7	breast:
10	chr7:100486731..100489034-chr7:100894336..100897176,2	MCF-7	breast:
11	chr7:100486155..100488924-chr7:100732323..100735470,4	MCF-7	breast:
12	chr7:100486624..100489424-chr7:100545614..100548228,2	MCF-7	breast:
13	chr7:100447367..100452420-chr7:100484839..100489079,9	MCF-7	breast:
14	chr7:100486587..100489014-chr7:100735698..100737931,3	MCF-7	breast:
15	chr7:100433653..100435265-chr7:100487454..100490757,3	MCF-7	breast:
16	chr7:100182211..100184849-chr7:100486903..100489190,3	MCF-7	breast:
17	chr7:100487290..100489665-chr7:100607825..100610804,2	K562	blood:
18	chr7:100315107..100317886-chr7:100488286..100489805,2	MCF-7	breast:
19	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
20	chr7:100421851..100424595-chr7:100488128..100489967,2	MCF-7	breast:
21	chr7:100486477..100489401-chr7:100859928..100862607,2	MCF-7	breast:
22	chr7:100486764..100489719-chr7:100736778..100738797,2	K562	blood:
23	chr7:100487416..100489348-chr7:101516491..101519278,2	MCF-7	breast:
24	chr7:100484134..100489082-chr7:100804986..100809404,8	MCF-7	breast:
25	chr7:100025949..100027642-chr7:100487777..100489380,2	MCF-7	breast:
26	chr7:100488064..100490956-chr7:100899362..100902023,2	MCF-7	breast:
27	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:

No data

Variant related genes	Relation type
UFSP1	TF binding region
ENSG00000128564	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000228273	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000163848	Chromatin interaction
ENSG00000106404	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000169894	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000260336	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000169871	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100486200-100489000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:100486400-100489200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:100486400-100489400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:100486600-100489000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:100486600-100489000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:100486600-100489000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:100486600-100489000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:100486600-100489000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:100486600-100489000	Active TSS	Rectal Smooth Muscle	rectum
10	chr7:100486600-100489200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:100486600-100489200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:100486600-100489200	Active TSS	Fetal Kidney	kidney
13	chr7:100486600-100489400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:100486600-100489400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:100486600-100489400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:100486600-100489400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:100486600-100490600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:100486800-100489000	Active TSS	Colon Smooth Muscle	Colon
19	chr7:100486800-100489200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:100487000-100489400	Active TSS	Fetal Lung	lung
21	chr7:100487600-100489000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:100487600-100489000	Flanking Active TSS	Placenta	Placenta
23	chr7:100487600-100489000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr7:100487600-100489200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:100487600-100489200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:100487600-100489200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:100487800-100489000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:100487800-100489000	Flanking Active TSS	Colonic Mucosa	Colon
29	chr7:100487800-100489000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr7:100487800-100489200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:100487800-100489400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:100488000-100489000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr7:100488000-100489000	Flanking Active TSS	NHEK	skin
34	chr7:100488200-100489000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:100488200-100489000	Bivalent Enhancer	Fetal Heart	heart
36	chr7:100488200-100489000	Enhancers	Left Ventricle	heart
37	chr7:100488200-100489000	Enhancers	Spleen	Spleen
38	chr7:100488200-100489200	Active TSS	H1 Cell Line	embryonic stem cell
39	chr7:100488200-100489200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:100488200-100489200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:100488200-100489200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:100488200-100489200	Bivalent Enhancer	Fetal Brain Male	brain
43	chr7:100488200-100489200	Enhancers	Stomach Mucosa	stomach
44	chr7:100488200-100489400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr7:100488200-100489800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:100488200-100492600	Weak transcription	Liver	Liver
47	chr7:100488400-100489000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr7:100488400-100489000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:100488400-100489000	Flanking Active TSS	Esophagus	oesophagus
50	chr7:100488400-100489000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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