Variant report

Variant	rs17156420
Chromosome Location	chr7:102940582-102940583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102936427..102940589-chr7:102983649..102988902,7	K562	blood:
2	chr7:102714015..102715644-chr7:102940353..102942238,2	K562	blood:
3	chr7:102940048..102941783-chr7:102957595..102959414,2	K562	blood:
4	chr7:102937906..102941982-chr7:102947783..102950919,3	MCF-7	breast:
5	chr7:102939410..102942182-chr7:102954318..102956590,2	K562	blood:

Variant related genes	Relation type
ENSG00000170632	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000105821	Chromatin interaction
ENSG00000161057	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10234363	0.91[EUR][1000 genomes]
rs10242349	0.91[EUR][1000 genomes]
rs10249921	0.91[EUR][1000 genomes]
rs10279441	0.91[EUR][1000 genomes]
rs1476678	1.00[GIH][hapmap]
rs17136070	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1968196	0.95[EUR][1000 genomes]
rs1968197	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs28375913	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28397594	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28675125	0.91[EUR][1000 genomes]
rs3864442	0.95[EUR][1000 genomes]
rs3959192	0.93[EUR][1000 genomes]
rs4286873	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs57770439	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58202498	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58418722	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs58443652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59245803	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59829064	0.91[AFR][1000 genomes]
rs60020835	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60080018	0.93[EUR][1000 genomes]
rs60366734	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60383417	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6942876	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6960317	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs6975450	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs6978467	0.88[EUR][1000 genomes]
rs6978540	0.86[EUR][1000 genomes]
rs6978608	0.88[EUR][1000 genomes]
rs6979451	0.88[EUR][1000 genomes]
rs7789727	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7801094	0.91[EUR][1000 genomes]
rs7810936	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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 target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17156420	POLR2J	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102938400-102957000	Weak transcription	Spleen	Spleen
2	chr7:102938600-102941000	Weak transcription	Lung	lung
3	chr7:102938600-102941800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:102938600-102942800	Weak transcription	Pancreas	Pancrea
5	chr7:102938600-102943600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:102938600-102946400	Weak transcription	Esophagus	oesophagus
7	chr7:102938600-102951400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:102938600-102957000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:102938600-102984200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:102938800-102957000	Weak transcription	Aorta	Aorta
11	chr7:102939000-102946800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:102939000-102965200	Weak transcription	Right Ventricle	heart
13	chr7:102939000-102969200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr7:102939200-102940800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:102939200-102941800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:102939200-102942000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:102939200-102946800	Weak transcription	Psoas Muscle	Psoas
18	chr7:102939200-102947800	Weak transcription	Fetal Brain Male	brain
19	chr7:102939200-102947800	Weak transcription	Fetal Heart	heart
20	chr7:102939200-102949600	Strong transcription	Left Ventricle	heart
21	chr7:102939200-102962000	Weak transcription	Right Atrium	heart
22	chr7:102939200-102967400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:102939200-102968400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr7:102939200-102968400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:102939200-102972400	Strong transcription	Fetal Thymus	thymus
26	chr7:102939400-102940600	Genic enhancers	Brain Cingulate Gyrus	brain
27	chr7:102939400-102941000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:102939400-102941200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:102939400-102941200	Weak transcription	HUVEC	blood vessel
30	chr7:102939400-102941200	Weak transcription	NHLF	lung
31	chr7:102939400-102941600	Weak transcription	Fetal Kidney	kidney
32	chr7:102939400-102948400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr7:102939400-102950800	Weak transcription	Small Intestine	intestine
34	chr7:102939400-102958800	Weak transcription	Gastric	stomach
35	chr7:102939400-102964800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:102939400-102965600	Strong transcription	Fetal Lung	lung
37	chr7:102939400-102966800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:102939400-102967800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:102939400-102967800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:102939400-102968000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:102939400-102968000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr7:102939400-102968200	Strong transcription	Placenta	Placenta
43	chr7:102939400-102968200	Strong transcription	HSMM	muscle
44	chr7:102939400-102969800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:102939600-102940600	Weak transcription	Brain Substantia Nigra	brain
46	chr7:102939600-102940800	Genic enhancers	Dnd41	blood
47	chr7:102939600-102941000	Weak transcription	HSMMtube	muscle
48	chr7:102939600-102941200	Weak transcription	Brain Angular Gyrus	brain
49	chr7:102939600-102942000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr7:102939600-102943200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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