Variant report

Variant	rs4734967
Chromosome Location	chr8:108440926-108440927
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	chr8:108439594..108441286-chr8:108441699..108444192,2	K562	blood:
2	chr8:108438018..108441094-chr8:108441728..108444192,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10086241	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086336	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086467	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10091818	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955455	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10955456	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12541987	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12546710	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13439018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433165	0.90[JPT][hapmap]
rs1433166	0.90[JPT][hapmap]
rs1433167	0.90[JPT][hapmap]
rs1433172	0.87[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1433185	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1433187	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1433188	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1433193	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs17301273	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17302560	0.83[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1836031	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28577060	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3847160	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4100190	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4114169	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4571710	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734973	0.81[ASN][1000 genomes]
rs56163052	0.81[ASN][1000 genomes]
rs6469113	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7816817	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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:42 , 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	chr8:108434000-108449800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:108434200-108441400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:108436000-108442600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:108437400-108441200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:108437800-108441200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:108437800-108441400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:108438000-108441400	Enhancers	Fetal Kidney	kidney
10	chr8:108438400-108441400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:108438400-108441400	Weak transcription	Right Atrium	heart
12	chr8:108438600-108441400	Weak transcription	NH-A	brain
13	chr8:108438800-108441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:108438800-108441000	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:108438800-108442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:108438800-108447600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:108438800-108448400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:108439000-108441200	Weak transcription	Adipose Nuclei	Adipose
19	chr8:108439200-108441000	Weak transcription	Osteobl	bone
20	chr8:108439400-108441200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:108439600-108441200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:108439600-108441200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:108439600-108441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:108439800-108441400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:108439800-108441400	Weak transcription	Fetal Stomach	stomach
26	chr8:108439800-108441400	Weak transcription	Ovary	ovary
27	chr8:108439800-108442600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:108439800-108444000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:108439800-108449800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:108440000-108441200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:108440200-108441400	Enhancers	NHDF-Ad	bronchial
32	chr8:108440200-108441800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:108440400-108441200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:108440400-108441200	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:108440400-108441400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:108440400-108441400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:108440400-108441600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:108440600-108452000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:108440800-108441200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:108440800-108442000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr8:108440800-108442000	Enhancers	HMEC	breast
42	chr8:108440800-108442400	Enhancers	Muscle Satellite Cultured Cells	--

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