Variant report

Variant	rs17351808
Chromosome Location	chr1:176012709-176012710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176004510..176007370-chr1:176012270..176013775,2	K562	blood:
2	chr1:176012549..176014630-chr1:176018952..176021858,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10494499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10798427	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs10798428	0.84[EUR][1000 genomes]
rs10913150	0.91[CEU][hapmap];0.88[TSI][hapmap]
rs11576862	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579181	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11580753	1.00[ASN][1000 genomes]
rs11583071	1.00[ASN][1000 genomes]
rs11584481	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11587254	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11587785	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11588480	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11590045	1.00[ASN][1000 genomes]
rs12038027	0.82[EUR][1000 genomes]
rs12403794	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12404181	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357337	0.91[CEU][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs17351933	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17352072	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17354252	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2481627	0.91[CEU][hapmap];0.87[TSI][hapmap]
rs2481635	0.83[EUR][1000 genomes]
rs2481647	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs2481651	0.91[EUR][1000 genomes]
rs2481657	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2502822	0.91[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs2502826	0.91[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs2502832	0.91[CEU][hapmap];0.88[TSI][hapmap]
rs2502836	0.91[CEU][hapmap];0.88[TSI][hapmap]
rs2502841	0.91[CEU][hapmap];0.88[TSI][hapmap]
rs2502842	0.91[CEU][hapmap]
rs2861630	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129061	0.90[CEU][hapmap];0.81[TSI][hapmap];0.91[EUR][1000 genomes]
rs4307526	0.86[EUR][1000 genomes]
rs4314844	0.86[EUR][1000 genomes]
rs4460596	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4601543	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650934	0.82[EUR][1000 genomes]
rs553852	0.91[CEU][hapmap]
rs56051510	1.00[ASN][1000 genomes]
rs56198111	1.00[ASN][1000 genomes]
rs56949697	1.00[ASN][1000 genomes]
rs580978	0.91[CEU][hapmap]
rs60719126	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60964243	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61186664	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61820953	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61820960	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61820965	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61820968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61820999	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61821007	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821009	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821028	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61822662	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61822767	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425368	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs6680309	1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693947	0.84[AMR][1000 genomes]
rs6704509	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs704827	0.91[CEU][hapmap];0.81[TSI][hapmap]
rs74127150	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74127154	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74127185	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7517351	0.91[CEU][hapmap];0.88[TSI][hapmap]
rs7524972	0.82[EUR][1000 genomes]
rs7545043	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs7545639	0.86[EUR][1000 genomes]
rs7552181	0.91[CEU][hapmap]
rs7554913	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791744	0.91[CEU][hapmap]
rs791801	0.83[CEU][hapmap];0.87[TSI][hapmap]
rs9783047	0.91[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv1835152	chr1:175996260-176012807	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:175974600-176014200	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
4	chr1:175976400-176014400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
7	chr1:175978400-176014000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:175978400-176014800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:175979800-176014400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:175980200-176028000	Weak transcription	K562	blood
14	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
15	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
16	chr1:175999000-176017000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:176000600-176014800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:176001800-176016200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:176003600-176014600	Weak transcription	NH-A	brain
20	chr1:176003600-176016200	Weak transcription	HMEC	breast
21	chr1:176003800-176021400	Weak transcription	Osteobl	bone
22	chr1:176004000-176014000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:176004000-176014200	Weak transcription	HUVEC	blood vessel
24	chr1:176004000-176018200	Weak transcription	Hela-S3	cervix
25	chr1:176004000-176021200	Weak transcription	A549	lung
26	chr1:176004000-176026400	Weak transcription	Small Intestine	intestine
27	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:176004200-176016000	Weak transcription	NHEK	skin
29	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:176005400-176015400	Strong transcription	Dnd41	blood
31	chr1:176005600-176013400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:176005600-176015400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:176005600-176015400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:176006000-176013000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
36	chr1:176006200-176049000	Weak transcription	HSMM	muscle
37	chr1:176006400-176013600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:176006600-176012800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:176006800-176012800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:176006800-176012800	Strong transcription	Adipose Nuclei	Adipose
41	chr1:176006800-176014400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:176007000-176012800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:176007000-176012800	Strong transcription	Liver	Liver
44	chr1:176007000-176014000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr1:176007200-176014200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:176007200-176015400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:176007400-176012800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:176007400-176015000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:176007600-176020200	Weak transcription	Fetal Heart	heart
50	chr1:176007800-176020400	Weak transcription	Fetal Brain Female	brain

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