Variant report

Variant	rs2791338
Chromosome Location	chr8:131285637-131285638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131283513..131285775-chr8:131309239..131311287,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10085959	0.80[AFR][1000 genomes]
rs10089819	0.83[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10091450	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10097893	0.83[AFR][1000 genomes]
rs10100892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103280	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs1031474	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1031475	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956512	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12679149	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1426101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904259	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2554369	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2554372	0.82[CHB][hapmap]
rs2670885	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2670888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2670890	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2670891	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2791342	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2791343	0.84[CEU][hapmap];0.86[ASN][1000 genomes]
rs2791350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28491737	0.83[AFR][1000 genomes]
rs28495072	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2943086	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]
rs6415510	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6470801	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6470804	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7003309	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs7004884	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7008507	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7846376	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297805	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131270600-131291200	Weak transcription	Liver	Liver
4	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
5	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
7	chr8:131277000-131288200	Weak transcription	K562	blood
8	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
9	chr8:131278000-131288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:131278200-131288800	Weak transcription	Esophagus	oesophagus
11	chr8:131278400-131289200	Weak transcription	Fetal Thymus	thymus
12	chr8:131278600-131289000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:131278600-131289200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:131280600-131286200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:131280600-131286400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:131281600-131287400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:131281800-131286200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:131281800-131287600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:131281800-131288800	Weak transcription	GM12878-XiMat	blood
20	chr8:131282000-131286400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:131282000-131286400	Weak transcription	NHDF-Ad	bronchial
22	chr8:131282000-131286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:131282000-131286800	Weak transcription	Primary T cells from cord blood	blood
24	chr8:131282000-131287200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:131282000-131288200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:131282000-131288600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:131282000-131288600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:131282000-131288600	Weak transcription	Brain Angular Gyrus	brain
29	chr8:131282000-131288600	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:131282000-131288600	Weak transcription	Fetal Lung	lung
31	chr8:131282000-131289200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:131282000-131291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:131282000-131292200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:131282000-131292200	Weak transcription	HSMMtube	muscle
35	chr8:131282000-131298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:131282200-131286400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:131282200-131286600	Weak transcription	HSMM	muscle
38	chr8:131282200-131287200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:131282200-131288800	Weak transcription	Osteobl	bone
40	chr8:131282200-131289800	Weak transcription	HepG2	liver
41	chr8:131282200-131291000	Weak transcription	Small Intestine	intestine
42	chr8:131282400-131286000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:131282400-131286800	Weak transcription	Brain Substantia Nigra	brain
44	chr8:131282400-131287200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:131282400-131287200	Weak transcription	Fetal Heart	heart
46	chr8:131282400-131287400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:131282400-131287600	Weak transcription	Right Ventricle	heart
48	chr8:131282400-131288200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:131282400-131288400	Weak transcription	Fetal Stomach	stomach
50	chr8:131282400-131288600	Weak transcription	Adipose Nuclei	Adipose

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