Variant report

Variant	rs1547944
Chromosome Location	chr7:11159057-11159058
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10251095	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs10251185	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10255688	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1029583	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1029584	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1057436	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10807748	0.82[EUR][1000 genomes]
rs10950334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11560245	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11975710	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11978518	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12056132	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12667160	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12699172	0.86[CEU][hapmap]
rs13227933	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13232272	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs13236926	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13238887	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13241511	0.83[CEU][hapmap]
rs1483202	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1483203	0.82[CEU][hapmap]
rs1531834	0.81[EUR][1000 genomes]
rs1547945	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1636753	0.88[CEU][hapmap]
rs1640704	1.00[JPT][hapmap]
rs1681291	1.00[JPT][hapmap]
rs17346506	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17347241	0.90[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs1833011	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2020391	0.81[EUR][1000 genomes]
rs2190293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs220090	0.89[CEU][hapmap]
rs220091	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs220094	1.00[JPT][hapmap]
rs220097	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2353340	1.00[JPT][hapmap]
rs2353341	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2353342	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2906543	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2906544	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2906545	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2906546	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2906547	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2906548	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2906549	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2906550	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2906551	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs2906552	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2906553	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2906554	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2906555	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2906556	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2906558	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2906559	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2906560	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2906561	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2906562	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2906563	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2906566	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2995878	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2995879	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2995880	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2995881	0.86[CEU][hapmap];0.82[AMR][1000 genomes]
rs2995884	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2995886	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2995898	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2995901	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2995903	0.81[AMR][1000 genomes]
rs34166672	0.93[ASN][1000 genomes]
rs34665460	0.88[ASN][1000 genomes]
rs35648039	0.88[ASN][1000 genomes]
rs3801441	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs3801444	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3801449	0.90[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3801450	0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs3801451	0.89[ASN][1000 genomes]
rs3801453	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3823875	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs4314555	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4534044	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4644135	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4719258	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4720938	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4720945	0.81[JPT][hapmap]
rs62440485	0.83[ASN][1000 genomes]
rs6460785	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6951444	0.81[JPT][hapmap]
rs6954805	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6957940	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6969350	0.89[ASN][1000 genomes]
rs7781258	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7782589	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7785008	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7789963	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7790383	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7790448	0.82[CEU][hapmap]
rs7803348	0.88[ASN][1000 genomes]
rs7806039	0.90[ASN][1000 genomes]
rs7806840	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7809178	0.83[CEU][hapmap];0.80[AMR][1000 genomes]
rs7811934	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 target site	30 gene(s)	inside rSNPs	diseases
11	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv887602	chr7:11071993-11220846	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv428162	chr7:11085784-11359333	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv830901	chr7:11093455-11272219	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv916426	chr7:11095057-11201696	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv887603	chr7:11104985-11231727	Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv1025368	chr7:11124528-11162451	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
18	nsv1026282	chr7:11124528-11163828	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
19	nsv1031075	chr7:11136339-11187167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
20	nsv606195	chr7:11140383-11216782	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
21	nsv606196	chr7:11144030-11255948	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
22	nsv1029654	chr7:11147593-11263834	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
23	nsv538731	chr7:11147593-11263834	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11046200-11175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:11046600-11167800	Weak transcription	Thymus	Thymus
3	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
4	chr7:11076400-11193200	Weak transcription	Ovary	ovary
5	chr7:11077000-11162400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:11091800-11174200	Weak transcription	Left Ventricle	heart
7	chr7:11102200-11189200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:11102400-11167800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:11102600-11161000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:11102600-11173200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:11102600-11173400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:11102600-11190400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:11103000-11189000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
15	chr7:11107800-11161000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:11113200-11211800	Weak transcription	Fetal Intestine Large	intestine
17	chr7:11113600-11166600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:11114600-11210000	Weak transcription	Fetal Brain Female	brain
19	chr7:11118000-11199000	Weak transcription	HSMM	muscle
20	chr7:11122800-11169800	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:11122800-11173000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:11123000-11161000	Weak transcription	HSMMtube	muscle
23	chr7:11123000-11163000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:11123000-11173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:11123000-11177800	Weak transcription	HepG2	liver
26	chr7:11123400-11169800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:11123600-11161000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:11125000-11162200	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:11125400-11188000	Weak transcription	Small Intestine	intestine
30	chr7:11125800-11167000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:11134800-11166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:11138800-11169400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:11140800-11162000	Weak transcription	NH-A	brain
34	chr7:11140800-11167000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:11141000-11173400	Weak transcription	NHEK	skin
36	chr7:11142400-11167800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:11143200-11161000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:11144000-11164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:11144400-11169800	Weak transcription	HUVEC	blood vessel
40	chr7:11144400-11173600	Weak transcription	Liver	Liver
41	chr7:11144600-11166600	Weak transcription	Fetal Thymus	thymus
42	chr7:11144600-11167000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:11144600-11184800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:11144600-11191000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:11148000-11192200	Weak transcription	Fetal Stomach	stomach
46	chr7:11148600-11174400	Weak transcription	A549	lung
47	chr7:11149200-11191200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:11149400-11163200	Weak transcription	HMEC	breast
49	chr7:11149600-11171400	Weak transcription	Pancreas	Pancrea
50	chr7:11149800-11171600	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links