Variant report

Variant	rs4571710
Chromosome Location	chr8:108434658-108434659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10086241	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10086336	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10086467	0.95[CEU][hapmap];0.92[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10091818	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10108418	0.82[ASN][1000 genomes]
rs10955455	0.93[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs10955456	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12541987	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546710	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13439018	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13439823	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1433165	0.80[CHD][hapmap];0.90[JPT][hapmap]
rs1433166	0.90[JPT][hapmap]
rs1433167	0.90[JPT][hapmap]
rs1433172	0.83[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap]
rs1433185	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1433187	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1433188	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433193	0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs17301273	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17302560	0.82[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs1836031	0.95[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28577060	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3847160	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4100190	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4114169	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734967	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469113	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7816817	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108420200-108441400	Weak transcription	Aorta	Aorta
2	chr8:108421800-108448200	Weak transcription	Psoas Muscle	Psoas
3	chr8:108430600-108436000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:108432800-108437000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:108433200-108435800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:108433600-108434800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:108433800-108435800	Enhancers	Fetal Kidney	kidney
8	chr8:108433800-108436000	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:108433800-108440400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:108433800-108440400	Weak transcription	NHLF	lung
11	chr8:108434000-108435000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:108434000-108435600	Weak transcription	Ovary	ovary
13	chr8:108434000-108436000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:108434000-108437800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:108434000-108437800	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:108434000-108438000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:108434000-108438200	Weak transcription	Right Atrium	heart
18	chr8:108434000-108440400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:108434000-108449800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:108434200-108436000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:108434200-108436000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:108434200-108437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:108434200-108437800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:108434200-108441400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:108434400-108434800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:108434400-108435800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:108434400-108438000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:108434400-108438400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:108434600-108435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:108434600-108435600	Weak transcription	Pancreas	Pancrea
31	chr8:108434600-108436800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:108434600-108438000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:108434600-108438000	Weak transcription	Osteobl	bone
34	chr8:108434600-108438200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:108434600-108440200	Weak transcription	NHDF-Ad	bronchial

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