Variant report

Variant	rs837083
Chromosome Location	chr8:130868363-130868364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130868089..130870715-chr8:130884298..130886456,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10956493	1.00[JPT][hapmap]
rs1600932	1.00[JPT][hapmap]
rs1600933	1.00[JPT][hapmap]
rs1600934	1.00[JPT][hapmap]
rs17190932	1.00[JPT][hapmap]
rs177113	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1842793	1.00[JPT][hapmap]
rs1967019	1.00[JPT][hapmap]
rs2449414	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624809	0.95[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2624810	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624813	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2777699	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298621	0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.80[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs298622	1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap]
rs372984	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs439184	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs448220	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56665652	0.83[AFR][1000 genomes]
rs967974	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
2	chr8:130845600-130882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:130846000-130882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:130846400-130881800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:130850800-130884000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:130851000-130883800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:130851200-130878600	Weak transcription	Ovary	ovary
8	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:130851800-130875400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:130852000-130875200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr8:130852000-130878600	Strong transcription	Fetal Thymus	thymus
12	chr8:130852000-130879400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:130852000-130883800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:130852200-130868600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:130852200-130883800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr8:130852600-130872200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:130853000-130870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:130853200-130870200	Weak transcription	Aorta	Aorta
19	chr8:130854000-130878800	Weak transcription	Colonic Mucosa	Colon
20	chr8:130855600-130874600	Strong transcription	Liver	Liver
21	chr8:130856000-130870600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:130858600-130868600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:130860000-130882400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:130860200-130869000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:130860400-130868600	Strong transcription	GM12878-XiMat	blood
26	chr8:130860400-130871200	Strong transcription	Dnd41	blood
27	chr8:130860800-130869600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:130860800-130871000	Strong transcription	Primary B cells from cord blood	blood
29	chr8:130861200-130868800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:130861800-130868600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr8:130862000-130882400	Weak transcription	NHLF	lung
32	chr8:130862600-130869600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:130862600-130884400	Weak transcription	Fetal Brain Male	brain
34	chr8:130863600-130886800	Weak transcription	Fetal Lung	lung
35	chr8:130863800-130868400	Strong transcription	A549	lung
36	chr8:130863800-130876800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:130864000-130882400	Weak transcription	Esophagus	oesophagus
38	chr8:130864400-130869000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:130864400-130869600	Weak transcription	HUVEC	blood vessel
40	chr8:130864400-130870800	Weak transcription	Spleen	Spleen
41	chr8:130864400-130871000	Weak transcription	Lung	lung
42	chr8:130864400-130871200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:130864400-130871600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:130864400-130871600	Weak transcription	Fetal Stomach	stomach
45	chr8:130864400-130872200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:130864400-130876600	Weak transcription	Pancreas	Pancrea
47	chr8:130864400-130876800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:130864400-130876800	Weak transcription	Gastric	stomach
49	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:130864600-130869400	Weak transcription	Fetal Muscle Trunk	muscle

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