Variant report

Variant	rs2943086
Chromosome Location	chr8:131330978-131330979
allele	A/G
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	chr8:131325475..131327284-chr8:131328530..131331527,2	MCF-7	breast:
3	chr8:131330257..131333007-chr8:131345961..131348000,2	K562	blood:
4	chr8:131324792..131327507-chr8:131328218..131332203,4	K562	blood:
5	chr8:131328562..131331530-chr8:131335260..131337875,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10085959	0.89[YRI][hapmap]
rs10089819	0.88[ASW][hapmap];0.83[CEU][hapmap];0.93[CHB][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap]
rs10091450	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10097893	0.82[ASW][hapmap];0.96[LWK][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs10100892	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10103280	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs10956512	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1158570	0.91[CHD][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs12679149	0.81[AFR][1000 genomes]
rs1426101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16904211	0.88[YRI][hapmap]
rs16904259	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes]
rs2554369	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2554372	0.82[CHB][hapmap];0.88[TSI][hapmap]
rs2554373	0.82[CHD][hapmap]
rs2670885	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2670888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2670890	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2670891	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2791338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2791342	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2791343	0.83[CEU][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2791350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28491737	0.82[AFR][1000 genomes]
rs28495072	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3057	0.81[CHD][hapmap];0.84[MEX][hapmap]
rs6415510	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs6470804	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes]
rs6984963	0.83[ASN][1000 genomes]
rs6985563	0.82[ASN][1000 genomes]
rs7004884	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs7008507	0.81[AFR][1000 genomes]
rs72724494	0.81[EUR][1000 genomes]
rs7460225	0.84[MEX][hapmap]
rs7817803	0.84[MEX][hapmap]
rs7839523	0.84[MEX][hapmap]
rs7846376	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap]
rs9297805	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes];0.85[EUR][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
2	chr8:131315600-131331600	Weak transcription	Thymus	Thymus
3	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:131315600-131353400	Weak transcription	Dnd41	blood
5	chr8:131319400-131333600	Weak transcription	HepG2	liver
6	chr8:131322000-131335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus
8	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131323600-131331600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:131325200-131335800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:131325200-131336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:131325800-131332200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:131326200-131333400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:131326400-131331000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:131326400-131331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:131326400-131333200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:131326400-131336200	Weak transcription	Hela-S3	cervix
19	chr8:131326600-131333600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:131326800-131336400	Weak transcription	Fetal Lung	lung
21	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:131327000-131333400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:131327000-131333400	Weak transcription	Brain Germinal Matrix	brain
24	chr8:131327000-131333800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:131327000-131334200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:131327000-131334800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:131327200-131337800	Weak transcription	Fetal Kidney	kidney
29	chr8:131327400-131332000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:131327600-131332000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:131328200-131332800	Enhancers	Spleen	Spleen
32	chr8:131328400-131332000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr8:131328400-131332600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:131328400-131334800	Weak transcription	Liver	Liver
35	chr8:131328600-131331200	Enhancers	NHLF	lung
36	chr8:131328600-131332000	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:131328800-131332000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:131328800-131332000	Flanking Active TSS	GM12878-XiMat	blood
39	chr8:131329000-131332200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr8:131329000-131337000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:131329200-131335200	Weak transcription	Small Intestine	intestine
42	chr8:131329400-131331000	Enhancers	Osteobl	bone
43	chr8:131329400-131331800	Enhancers	Brain Substantia Nigra	brain
44	chr8:131329400-131332000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:131329400-131332000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr8:131329400-131332000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:131329400-131332600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:131329600-131331000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:131329600-131331200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:131329600-131331200	Enhancers	Adipose Nuclei	Adipose

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