Variant report

Variant	rs11678591
Chromosome Location	chr2:98541001-98541002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10432626	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11678558	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs11679828	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11680018	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680321	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11680883	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11681535	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684749	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11686881	0.91[CEU][hapmap]
rs11688829	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11690687	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11690737	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11691494	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11692010	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11692470	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12052222	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12052836	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12052846	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12104810	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12988571	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12995673	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13004090	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13006932	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13008968	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13020776	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13023980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13028954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13032265	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13032883	0.88[EUR][1000 genomes]
rs13034929	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1470483	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17488834	0.92[CEU][hapmap]
rs17488897	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17489454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17489915	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17489984	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17490429	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1838797	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1875699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2044458	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2044459	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2084176	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2278700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305143	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2871183	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3192177	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs3198055	0.85[EUR][1000 genomes]
rs34149969	0.81[EUR][1000 genomes]
rs34373359	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34502870	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34503448	0.87[EUR][1000 genomes]
rs34528940	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34654057	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34974566	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35098301	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35218942	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35255677	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35424768	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35505530	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35564270	0.86[EUR][1000 genomes]
rs35783535	0.88[EUR][1000 genomes]
rs4311104	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55776387	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55886305	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57681139	0.88[ASN][1000 genomes]
rs58546246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62156511	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6710088	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6738389	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6746768	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6748124	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6757357	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71412824	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71429376	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs717417	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7421146	0.91[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7564773	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7583868	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7601898	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs895438	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs953320	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98504600-98552200	Weak transcription	NHLF	lung
2	chr2:98519600-98541600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:98520200-98546000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:98520200-98552200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:98520600-98550600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:98523400-98545800	Weak transcription	Fetal Kidney	kidney
7	chr2:98523400-98546200	Weak transcription	HUVEC	blood vessel
8	chr2:98524600-98552600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:98524800-98552200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:98525000-98551600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:98525200-98547400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:98525600-98548200	Weak transcription	Pancreas	Pancrea
13	chr2:98528600-98550600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:98529000-98552200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:98529400-98541600	Weak transcription	Osteobl	bone
16	chr2:98530400-98541400	Weak transcription	Small Intestine	intestine
17	chr2:98531000-98552400	Weak transcription	Right Atrium	heart
18	chr2:98531200-98552200	Weak transcription	Fetal Thymus	thymus
19	chr2:98531600-98546000	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:98531600-98548200	Weak transcription	K562	blood
21	chr2:98532200-98541200	Weak transcription	NHDF-Ad	bronchial
22	chr2:98533000-98547600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:98533800-98546000	Weak transcription	Fetal Heart	heart
24	chr2:98533800-98552000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:98534200-98547600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:98534200-98551600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:98535000-98542200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:98535600-98545600	Weak transcription	Brain Substantia Nigra	brain
29	chr2:98535600-98546000	Weak transcription	Brain Anterior Caudate	brain
30	chr2:98536000-98542800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:98536600-98545200	Weak transcription	Psoas Muscle	Psoas
32	chr2:98536800-98541800	Weak transcription	HMEC	breast
33	chr2:98536800-98544200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:98536800-98545000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:98537000-98541200	Weak transcription	HSMM	muscle
36	chr2:98537000-98541400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:98538200-98543200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:98538600-98546000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:98538800-98548200	Weak transcription	Gastric	stomach
40	chr2:98538800-98552400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:98539000-98551600	Weak transcription	A549	lung
42	chr2:98539200-98541800	Strong transcription	Fetal Intestine Small	intestine
43	chr2:98539200-98542000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:98539200-98542200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:98539200-98542200	Strong transcription	Fetal Intestine Large	intestine
46	chr2:98539200-98542800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:98539200-98543200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:98539200-98546000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:98539400-98541800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:98539400-98542000	Strong transcription	Primary monocytes fromperipheralblood	blood

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