Variant report

Variant	rs12681954
Chromosome Location	chr8:131248335-131248336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10091130	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10109236	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10505548	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505549	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956517	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956525	0.82[CEU][hapmap]
rs11779014	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs11781752	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11786705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12541083	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12542411	0.91[AFR][1000 genomes]
rs12545910	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12546088	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12546603	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12547397	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12547540	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12675390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12675543	0.91[AFR][1000 genomes]
rs12675865	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs12676836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12679283	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12681955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1417007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1469286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1549455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16893271	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904197	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904199	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16904204	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904208	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904212	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16904223	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16904231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16904239	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904241	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904242	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16904249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1960661	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1974313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2027377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2045091	0.84[CEU][hapmap]
rs2305511	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2395989	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs36004574	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3812476	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AFR][1000 genomes]
rs4236749	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs4461944	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4733569	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4733573	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4733771	1.00[AFR][1000 genomes]
rs4733772	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4733782	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4733783	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4733788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs57198371	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59297824	0.82[AFR][1000 genomes]
rs62524635	0.95[AFR][1000 genomes]
rs62524643	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62524644	0.83[ASN][1000 genomes]
rs62524647	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62524649	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62525884	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62525885	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62525888	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62525889	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62525921	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62525922	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62525927	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62525928	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6415511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs6415513	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6415514	0.81[EUR][1000 genomes]
rs6415517	0.94[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs6470813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470814	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6991714	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6996106	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs6996469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6999216	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7006336	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs716077	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs72722366	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72722371	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724420	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72724433	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7462286	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs754021	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9297806	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
2	chr8:131210000-131250400	Weak transcription	Gastric	stomach
3	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:131219000-131255000	Weak transcription	Thymus	Thymus
7	chr8:131220000-131254800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:131220000-131255000	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:131225200-131250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:131225200-131253400	Weak transcription	Right Ventricle	heart
11	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
12	chr8:131226200-131251600	Weak transcription	K562	blood
13	chr8:131227200-131251200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:131229400-131251600	Weak transcription	Aorta	Aorta
15	chr8:131232200-131257000	Weak transcription	Lung	lung
16	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
17	chr8:131234200-131248600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:131234600-131255600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:131234800-131255600	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
21	chr8:131237600-131258000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:131238200-131249600	Weak transcription	Fetal Brain Male	brain
23	chr8:131238600-131257000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:131239600-131250400	Weak transcription	Ovary	ovary
25	chr8:131239600-131251600	Weak transcription	Fetal Heart	heart
26	chr8:131239800-131255200	Weak transcription	Small Intestine	intestine
27	chr8:131240600-131255000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:131240800-131248400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:131240800-131252000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:131240800-131255800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:131241000-131250800	Genic enhancers	HSMM	muscle
32	chr8:131241800-131253200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:131242400-131251400	Weak transcription	Fetal Intestine Small	intestine
34	chr8:131242400-131255000	Weak transcription	GM12878-XiMat	blood
35	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:131243800-131249200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:131244000-131249000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:131244000-131249200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:131244000-131249200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:131244000-131249600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:131244000-131250400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr8:131244000-131262400	Weak transcription	Fetal Brain Female	brain
43	chr8:131244400-131259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:131245000-131249000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr8:131245000-131251600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:131245200-131248400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr8:131245200-131248400	Strong transcription	Fetal Muscle Leg	muscle
48	chr8:131245200-131248800	Strong transcription	A549	lung
49	chr8:131245200-131249600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:131245400-131248400	Strong transcription	Dnd41	blood

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