Variant report

Variant	rs6681173
Chromosome Location	chr1:171524772-171524773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10913119	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913149	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913157	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913285	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913292	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12562424	0.84[AMR][1000 genomes]
rs12564279	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12567152	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038040	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2038041	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2038043	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2179882	0.84[AMR][1000 genomes]
rs2294291	0.89[ASN][1000 genomes]
rs3204333	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57562814	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60014783	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6669168	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6676140	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6702038	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717832	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72717839	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72717840	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72717853	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717854	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7517178	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7521480	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7522026	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171481000-171528000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr1:171495200-171524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:171501200-171525600	Weak transcription	Fetal Heart	heart
5	chr1:171505200-171525600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:171511200-171525000	Weak transcription	Stomach Mucosa	stomach
7	chr1:171511600-171524800	Weak transcription	Spleen	Spleen
8	chr1:171511800-171525000	Weak transcription	Colonic Mucosa	Colon
9	chr1:171513000-171525200	Weak transcription	HSMMtube	muscle
10	chr1:171513400-171525000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:171513400-171525000	Weak transcription	Right Ventricle	heart
12	chr1:171513600-171525800	Weak transcription	NHLF	lung
13	chr1:171515600-171524800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:171516200-171526600	Weak transcription	Small Intestine	intestine
15	chr1:171517400-171525000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:171517400-171525000	Weak transcription	Esophagus	oesophagus
17	chr1:171517600-171524800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:171517600-171524800	Weak transcription	Lung	lung
19	chr1:171517600-171524800	Weak transcription	Pancreas	Pancrea
20	chr1:171517800-171525200	Weak transcription	HUVEC	blood vessel
21	chr1:171518200-171524800	Weak transcription	Aorta	Aorta
22	chr1:171518200-171525000	Weak transcription	Gastric	stomach
23	chr1:171518600-171525000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:171518800-171525000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:171519000-171524800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:171519000-171524800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:171519200-171525000	Weak transcription	Fetal Brain Female	brain
28	chr1:171519400-171525000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:171519400-171525800	Weak transcription	NH-A	brain
30	chr1:171519400-171526000	Weak transcription	A549	lung
31	chr1:171519600-171524800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:171519600-171525600	Weak transcription	HSMM	muscle
33	chr1:171519600-171525600	Weak transcription	NHDF-Ad	bronchial
34	chr1:171519600-171525800	Weak transcription	Hela-S3	cervix
35	chr1:171519600-171526200	Weak transcription	GM12878-XiMat	blood
36	chr1:171519600-171526200	Weak transcription	HepG2	liver
37	chr1:171519600-171526200	Weak transcription	K562	blood
38	chr1:171519600-171526400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:171519800-171524800	Weak transcription	Brain Germinal Matrix	brain
40	chr1:171519800-171525000	Weak transcription	HMEC	breast
41	chr1:171519800-171525000	Weak transcription	NHEK	skin
42	chr1:171519800-171525000	Weak transcription	Osteobl	bone
43	chr1:171519800-171525200	Weak transcription	Primary B cells from cord blood	blood
44	chr1:171519800-171526600	Weak transcription	Psoas Muscle	Psoas
45	chr1:171520000-171524800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:171520000-171524800	Weak transcription	Fetal Kidney	kidney
47	chr1:171520000-171525000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:171520000-171525200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:171520400-171524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:171520400-171524800	Weak transcription	Left Ventricle	heart

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