Variant report

Variant	rs7179093
Chromosome Location	chr15:75191372-75191373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:75191114-75192047	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:75191166-75191442	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr15:75191174-75191611	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:75191162-75191663	GM12892	blood:	n/a	n/a
5	POLR2A	chr15:75191106-75192065	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr15:75187739-75194836	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr15:75191239-75191607	K562	blood:	n/a	n/a
8	POLR2A	chr15:75191193-75191573	ProgFib	skin:	n/a	n/a
9	POLR2A	chr15:75191161-75191637	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:75191173-75191662	K562	blood:	n/a	n/a
11	POLR2A	chr15:75191029-75191372	K562	blood:	n/a	n/a
12	POLR2A	chr15:75191028-75191996	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:75191083-75193522	HepG2	liver:	n/a	n/a
14	POLR2A	chr15:75191323-75191665	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr15:75188926-75194641	U87	brain:	n/a	n/a
16	POLR2A	chr15:75191051-75193164	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr15:75191207-75192004	U87	brain:	n/a	n/a
18	POLR2A	chr15:75191155-75191964	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr15:75188926-75193508	U87	brain:	n/a	n/a
20	POLR2A	chr15:75191262-75191849	A549	lung:	n/a	n/a
21	POLR2A	chr15:75191042-75193090	GM12892	blood:	n/a	n/a
22	POLR2A	chr15:75187473-75194577	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr15:75187279-75194196	HepG2	liver:	n/a	n/a
24	POLR2A	chr15:75191166-75193177	K562	blood:	n/a	n/a
25	POLR2A	chr15:75191090-75191972	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr15:75191172-75191985	K562	blood:	n/a	n/a
27	POLR2A	chr15:75191137-75195522	K562	blood:	n/a	n/a
28	POLR2A	chr15:75191166-75191947	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:75191081-75191657	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr15:75187680-75194520	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr15:75191144-75194333	K562	blood:	n/a	n/a
32	POLR2A	chr15:75188556-75193697	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr15:75191143-75191647	HL-60	blood:	n/a	n/a
34	POLR2A	chr15:75191084-75191978	HCT-116	colon:	n/a	n/a
35	POLR2A	chr15:75191125-75191657	HCT-116	colon:	n/a	n/a
36	POLR2A	chr15:75191200-75191610	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:75191366-75191617	MCF-7	breast:	n/a	n/a
38	POLR2A	chr15:75191129-75191562	GM12878	blood:	n/a	n/a
39	POLR2A	chr15:75191132-75191799	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr15:75188034-75193326	PFSK-1	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75131329..75142649-chr15:75180088..75200119,60	MCF-7	breast:
2	chr15:75163746..75165751-chr15:75191304..75195509,4	K562	blood:
3	chr15:75132595..75137581-chr15:75190842..75194074,4	K562	blood:
4	chr15:75191256..75201000-chr15:75228549..75233626,13	K562	blood:
5	chr15:75144129..75146019-chr15:75191068..75193901,2	MCF-7	breast:
6	chr15:75181107..75185393-chr15:75190667..75200295,16	MCF-7	breast:
7	chr15:75134794..75137581-chr15:75190842..75193156,3	K562	blood:
8	chr15:75091765..75094357-chr15:75191183..75194158,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260824	TF binding region
ENSG00000178802	Chromatin interaction
ENSG00000140497	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000178741	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11072511	0.95[LWK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs1130741	0.95[LWK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs11857695	0.82[AFR][1000 genomes]
rs12101507	0.84[AFR][1000 genomes]
rs12437831	1.00[ASN][1000 genomes]
rs12439641	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12440159	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs12441499	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12442804	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12902515	0.85[AFR][1000 genomes]
rs12903205	0.82[AFR][1000 genomes]
rs12904897	0.81[AFR][1000 genomes]
rs12913293	0.87[AFR][1000 genomes]
rs2230479	0.83[LWK][hapmap];0.82[MKK][hapmap];0.83[AFR][1000 genomes]
rs28726277	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3935818	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4886635	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4886636	0.90[LWK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs56671860	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57498691	1.00[ASN][1000 genomes]
rs58856253	0.86[AFR][1000 genomes]
rs60494786	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60698434	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs729263	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7495739	0.95[LWK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs8025447	0.85[AFR][1000 genomes]
rs8031052	0.82[AFR][1000 genomes]
rs8032473	0.95[AFR][1000 genomes]
rs9672491	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75183200-75191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:75183200-75192000	Weak transcription	Fetal Kidney	kidney
3	chr15:75183200-75192400	Weak transcription	HUVEC	blood vessel
4	chr15:75183200-75197600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:75183400-75192200	Weak transcription	NH-A	brain
6	chr15:75183600-75193800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:75183600-75193800	Strong transcription	Fetal Stomach	stomach
8	chr15:75184000-75195400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:75184200-75192400	Weak transcription	Fetal Brain Male	brain
10	chr15:75184200-75196600	Weak transcription	Small Intestine	intestine
11	chr15:75185000-75193800	Strong transcription	Fetal Intestine Small	intestine
12	chr15:75185000-75194800	Weak transcription	Right Atrium	heart
13	chr15:75185200-75193800	Strong transcription	Fetal Intestine Large	intestine
14	chr15:75185200-75197000	Weak transcription	Fetal Heart	heart
15	chr15:75185800-75192600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:75186200-75191600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:75186200-75192000	Weak transcription	NHDF-Ad	bronchial
18	chr15:75186200-75192400	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:75186200-75193600	Weak transcription	Stomach Mucosa	stomach
20	chr15:75186400-75191600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:75186400-75191800	Weak transcription	Primary B cells from cord blood	blood
22	chr15:75186800-75195800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:75187000-75192400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:75187200-75193400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:75187200-75193600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr15:75187400-75193600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr15:75187600-75193600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:75187600-75193800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:75187600-75197200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:75187800-75193600	Strong transcription	Primary T cells from cord blood	blood
31	chr15:75187800-75193800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr15:75187800-75193800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:75187800-75194000	Strong transcription	A549	lung
34	chr15:75187800-75196600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:75187800-75196800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:75187800-75197400	Strong transcription	Fetal Thymus	thymus
37	chr15:75188000-75192800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:75188000-75193400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:75188000-75193600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:75188000-75193600	Strong transcription	Liver	Liver
41	chr15:75188000-75193800	Strong transcription	Brain Hippocampus Middle	brain
42	chr15:75188000-75193800	Strong transcription	K562	blood
43	chr15:75188000-75196000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:75188000-75196800	Strong transcription	Brain Germinal Matrix	brain
45	chr15:75188000-75197000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:75188000-75197000	Strong transcription	Fetal Brain Female	brain
47	chr15:75188000-75197600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:75188200-75193400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr15:75188200-75193800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:75188200-75193800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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