Variant report

Variant	rs12541083
Chromosome Location	chr8:131325469-131325470
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131324792..131327284-chr8:131328218..131332203,4	K562	blood:
2	chr8:131320555..131323239-chr8:131323603..131327093,4	MCF-7	breast:
3	chr8:131324792..131327507-chr8:131328218..131332203,4	K562	blood:
4	chr8:131320315..131322407-chr8:131325381..131327226,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10091130	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10109236	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10505548	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes]
rs10505549	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10956513	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10956515	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10956517	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10956525	0.82[ASW][hapmap];0.82[CEU][hapmap];0.93[GIH][hapmap]
rs11779014	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11781752	0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs11786705	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12542411	0.90[AFR][1000 genomes]
rs12545910	0.80[EUR][1000 genomes]
rs12547397	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12547540	0.80[EUR][1000 genomes]
rs12675390	0.95[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap]
rs12676836	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12679283	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12681954	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]
rs12681955	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1417007	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1469286	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1549455	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16893271	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16904208	0.81[AFR][1000 genomes]
rs16904212	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs16904219	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs16904223	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16904231	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16904239	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904241	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904242	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16904249	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1960661	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1974313	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2027377	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305511	0.84[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs36004574	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4733573	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4733771	0.81[AFR][1000 genomes]
rs4733782	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4733783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733788	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57198371	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62524643	0.81[AFR][1000 genomes]
rs62524649	0.81[AFR][1000 genomes]
rs62525885	0.81[AFR][1000 genomes]
rs62525888	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525889	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525921	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525922	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62525927	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62525928	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6415511	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6415512	1.00[YRI][hapmap]
rs6415513	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6415514	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6415517	1.00[ASW][hapmap];0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6470813	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470814	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6991714	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs6996469	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6999216	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7006336	0.80[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs716077	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs72724420	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72724433	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7462286	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs754021	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9297806	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
2	chr8:131310800-131328200	Weak transcription	Lung	lung
3	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
4	chr8:131315400-131326000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:131315400-131326000	Weak transcription	Placenta	Placenta
6	chr8:131315600-131326000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:131315600-131331600	Weak transcription	Thymus	Thymus
8	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:131315600-131353400	Weak transcription	Dnd41	blood
10	chr8:131316000-131325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:131317400-131326000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:131319000-131326000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:131319200-131326000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:131319400-131333600	Weak transcription	HepG2	liver
15	chr8:131319800-131329800	Weak transcription	Right Ventricle	heart
16	chr8:131320000-131326000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:131320000-131326000	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:131320400-131325600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:131321800-131325600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:131322000-131326000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:131322000-131326000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:131322000-131326000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:131322000-131326000	Weak transcription	Psoas Muscle	Psoas
24	chr8:131322000-131326000	Weak transcription	Right Atrium	heart
25	chr8:131322000-131326000	Weak transcription	Spleen	Spleen
26	chr8:131322000-131326200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:131322000-131326800	Enhancers	Fetal Heart	heart
28	chr8:131322000-131328800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:131322000-131329000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:131322000-131335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus
32	chr8:131322200-131325600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr8:131322200-131326000	Weak transcription	HSMMtube	muscle
34	chr8:131322200-131328800	Weak transcription	Small Intestine	intestine
35	chr8:131322600-131326800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr8:131322800-131326800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:131323000-131326000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:131323000-131326600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:131323200-131325600	Weak transcription	NH-A	brain
40	chr8:131323200-131326200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:131323400-131325600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:131323400-131325600	Weak transcription	HSMM	muscle
43	chr8:131323400-131326000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:131323400-131326000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:131323400-131326000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:131323400-131326200	Weak transcription	Brain Anterior Caudate	brain
47	chr8:131323400-131329600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:131323400-131329800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:131323400-131329800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine

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