Variant report

Variant	rs17161531
Chromosome Location	chr11:71154615-71154616
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	POLR2A	chr11:71151944-71156747	K562	blood:	n/a	n/a
2	POLR2A	chr11:71154345-71154893	K562	blood:	n/a	n/a
3	POLR2A	chr11:71154559-71154797	K562	blood:	n/a	n/a
4	POLR2A	chr11:71154555-71155619	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:71154354-71154698	K562	blood:	n/a	n/a
6	USF2	chr11:71154614-71154684	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71138911..71140880-chr11:71154532..71157322,2	K562	blood:
2	chr11:71146059..71148297-chr11:71153188..71155860,2	K562	blood:
3	chr11:71154436..71156970-chr11:71198755..71201662,2	MCF-7	breast:

Variant related genes	Relation type
DHCR7	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10160376	1.00[EUR][1000 genomes]
rs10160536	1.00[EUR][1000 genomes]
rs10450661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10450662	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10466698	1.00[EUR][1000 genomes]
rs10466717	1.00[EUR][1000 genomes]
rs11233662	1.00[EUR][1000 genomes]
rs11233679	1.00[EUR][1000 genomes]
rs11233754	1.00[EUR][1000 genomes]
rs11233871	1.00[EUR][1000 genomes]
rs11233901	1.00[EUR][1000 genomes]
rs11233950	1.00[EUR][1000 genomes]
rs11234008	1.00[EUR][1000 genomes]
rs11234009	1.00[EUR][1000 genomes]
rs12270619	0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12271661	1.00[EUR][1000 genomes]
rs12271811	1.00[EUR][1000 genomes]
rs12271894	1.00[EUR][1000 genomes]
rs12271996	1.00[EUR][1000 genomes]
rs12272475	1.00[EUR][1000 genomes]
rs12272819	1.00[EUR][1000 genomes]
rs12274022	1.00[EUR][1000 genomes]
rs12274073	1.00[EUR][1000 genomes]
rs12274363	1.00[EUR][1000 genomes]
rs12275637	1.00[EUR][1000 genomes]
rs12277617	1.00[EUR][1000 genomes]
rs12277693	1.00[EUR][1000 genomes]
rs12278475	1.00[EUR][1000 genomes]
rs12280295	0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281892	1.00[EUR][1000 genomes]
rs12282060	1.00[EUR][1000 genomes]
rs12283407	1.00[EUR][1000 genomes]
rs12283656	1.00[EUR][1000 genomes]
rs12284909	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12285168	1.00[EUR][1000 genomes]
rs12285189	1.00[EUR][1000 genomes]
rs12285333	1.00[EUR][1000 genomes]
rs12285566	1.00[EUR][1000 genomes]
rs12286197	1.00[EUR][1000 genomes]
rs12286997	0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12289365	1.00[EUR][1000 genomes]
rs12289373	1.00[EUR][1000 genomes]
rs12291219	1.00[EUR][1000 genomes]
rs12292886	1.00[EUR][1000 genomes]
rs12293132	1.00[EUR][1000 genomes]
rs12294879	1.00[EUR][1000 genomes]
rs12295554	1.00[EUR][1000 genomes]
rs2298775	1.00[EUR][1000 genomes]
rs28468070	1.00[EUR][1000 genomes]
rs28481909	1.00[EUR][1000 genomes]
rs28655145	1.00[EUR][1000 genomes]
rs3794059	1.00[EUR][1000 genomes]
rs3794061	1.00[EUR][1000 genomes]
rs3814732	1.00[EUR][1000 genomes]
rs56012338	1.00[EUR][1000 genomes]
rs56120850	1.00[EUR][1000 genomes]
rs57696920	0.81[AFR][1000 genomes]
rs58884740	1.00[EUR][1000 genomes]
rs59553442	1.00[EUR][1000 genomes]
rs59601821	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61440863	1.00[EUR][1000 genomes]
rs61663342	1.00[EUR][1000 genomes]
rs6592104	1.00[EUR][1000 genomes]
rs7129788	0.81[AFR][1000 genomes]
rs7130038	0.81[AFR][1000 genomes]
rs73530502	1.00[EUR][1000 genomes]
rs7950991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv518163	chr11:71142350-71155153	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv933654	chr11:71153638-71156067	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71140600-71158200	Weak transcription	Fetal Brain Male	brain
2	chr11:71144000-71156200	Strong transcription	Fetal Brain Female	brain
3	chr11:71144200-71158200	Weak transcription	Small Intestine	intestine
4	chr11:71144400-71156200	Strong transcription	Primary T cells from cord blood	blood
5	chr11:71144600-71157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:71144800-71156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:71144800-71156800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:71144800-71156800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:71144800-71157800	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr11:71145000-71155400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:71145000-71156400	Strong transcription	Brain Germinal Matrix	brain
12	chr11:71145000-71156600	Strong transcription	Fetal Stomach	stomach
13	chr11:71145000-71157000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:71145000-71157000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:71145000-71157400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:71145000-71157800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:71145000-71158600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:71145200-71156200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:71145200-71157000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:71145200-71157000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:71145200-71157200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:71145200-71157400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:71145200-71157400	Strong transcription	HMEC	breast
24	chr11:71145200-71157800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr11:71145400-71157800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:71145400-71158000	Weak transcription	Stomach Mucosa	stomach
27	chr11:71145600-71157000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:71145600-71157000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:71145600-71158000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:71145800-71155400	Strong transcription	Left Ventricle	heart
31	chr11:71145800-71156200	Strong transcription	Lung	lung
32	chr11:71145800-71156400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:71145800-71156600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:71145800-71156600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:71145800-71156800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:71145800-71156800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:71145800-71157000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:71145800-71157200	Strong transcription	HSMMtube	muscle
39	chr11:71145800-71157400	Strong transcription	Fetal Intestine Large	intestine
40	chr11:71145800-71157800	Strong transcription	Fetal Intestine Small	intestine
41	chr11:71146000-71155800	Strong transcription	HepG2	liver
42	chr11:71146000-71156200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:71146000-71156800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:71146000-71156800	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:71146000-71157000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:71146000-71157000	Strong transcription	Dnd41	blood
47	chr11:71146000-71158000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:71146200-71156200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:71146200-71156200	Strong transcription	Right Ventricle	heart
50	chr11:71146200-71156600	Strong transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links