Variant report

Variant	rs6712921
Chromosome Location	chr2:39478384-39478385
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39476438..39480963-chr2:39481034..39484561,4	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10153665	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10170424	0.83[EUR][1000 genomes]
rs10170617	0.83[EUR][1000 genomes]
rs10172736	0.98[EUR][1000 genomes]
rs10173556	0.91[EUR][1000 genomes]
rs10174268	0.85[ASN][1000 genomes]
rs10175038	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10195629	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1035232	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10865147	0.89[ASN][1000 genomes]
rs10865149	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10865150	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10865152	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11124668	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11124673	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11124676	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11124679	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1125839	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1211996	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12622941	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12712636	0.81[EUR][1000 genomes]
rs1468902	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17023837	0.85[EUR][1000 genomes]
rs1861735	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1922827	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2005892	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2111382	0.84[AFR][1000 genomes]
rs2178760	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2178762	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2193422	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2373534	0.85[EUR][1000 genomes]
rs2373535	0.85[EUR][1000 genomes]
rs2542008	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2888594	0.85[EUR][1000 genomes]
rs2888598	0.85[EUR][1000 genomes]
rs3755177	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3755178	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770670	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3770675	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770678	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6544210	0.81[ASN][1000 genomes]
rs6544213	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6544220	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6544222	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6544224	0.83[EUR][1000 genomes]
rs6712274	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6718134	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6725938	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6732611	0.85[EUR][1000 genomes]
rs6736700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6741019	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6742170	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6743041	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6753323	0.87[EUR][1000 genomes]
rs6756183	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6760382	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7574250	0.86[ASN][1000 genomes]
rs7578136	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7579414	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7581973	0.83[ASN][1000 genomes]
rs7583149	0.82[ASN][1000 genomes]
rs7594004	0.80[ASN][1000 genomes]
rs759589	0.92[EUR][1000 genomes]
rs7600014	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7600046	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7601700	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7603337	0.88[EUR][1000 genomes]
rs7604047	0.84[EUR][1000 genomes]
rs7608153	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 target site	36 gene(s)	inside rSNPs	diseases
2	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	36 gene(s)	inside rSNPs	diseases
5	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
8	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	esv1832414	chr2:39385155-39588797	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv833847	chr2:39410762-39604640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv533445	chr2:39412970-39605266	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv1830024	chr2:39440552-39588797	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv2693	chr2:39468641-39513800	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv873886	chr2:39468676-39573521	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv873887	chr2:39468676-39601889	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	esv1809158	chr2:39474679-39588797	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6712921	SOS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39469200-39503800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:39469400-39504200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39471000-39503400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:39471200-39478600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:39471200-39479200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:39471200-39479400	Weak transcription	Lung	lung
7	chr2:39471200-39480000	Weak transcription	Pancreas	Pancrea
8	chr2:39471200-39480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:39471200-39483800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:39471200-39503800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:39471200-39504200	Weak transcription	Esophagus	oesophagus
12	chr2:39471400-39503400	Weak transcription	Right Ventricle	heart
13	chr2:39471800-39480400	Weak transcription	Spleen	Spleen
14	chr2:39472600-39478600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:39472600-39480200	Weak transcription	Aorta	Aorta
16	chr2:39472600-39504000	Weak transcription	Thymus	Thymus
17	chr2:39472800-39478800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:39472800-39479400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:39472800-39481000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:39472800-39492000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:39473000-39480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:39473000-39482600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:39473000-39485600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:39473000-39491000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:39473000-39492200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:39473200-39491400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:39473400-39517400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:39474400-39480600	Weak transcription	NHEK	skin
29	chr2:39474600-39482400	Strong transcription	HSMM	muscle
30	chr2:39474600-39492600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:39474600-39494600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:39474600-39494600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:39474800-39492600	Weak transcription	Psoas Muscle	Psoas
34	chr2:39475000-39479000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:39475000-39483000	Strong transcription	NH-A	brain
36	chr2:39475600-39493600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:39475600-39494200	Strong transcription	Placenta	Placenta
38	chr2:39475600-39494400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:39475800-39481800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:39475800-39481800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:39475800-39482200	Strong transcription	Adipose Nuclei	Adipose
42	chr2:39476000-39478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:39476000-39479200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:39476000-39479600	Weak transcription	Fetal Brain Male	brain
45	chr2:39476200-39480600	Weak transcription	K562	blood
46	chr2:39476200-39483800	Weak transcription	Hela-S3	cervix
47	chr2:39476200-39502400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:39476400-39484600	Strong transcription	HepG2	liver
49	chr2:39476600-39478800	Strong transcription	HMEC	breast
50	chr2:39476600-39527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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