Variant report

Variant	rs1283699
Chromosome Location	chr8:108438906-108438907
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	chr8:108438018..108441094-chr8:108441728..108444192,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1283663	0.85[CEU][hapmap]
rs1283664	0.80[EUR][1000 genomes]
rs1283675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1283676	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283677	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283678	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283679	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283680	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1283685	0.80[EUR][1000 genomes]
rs1283692	0.80[EUR][1000 genomes]
rs1283694	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs1283695	0.80[EUR][1000 genomes]
rs1283697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283702	0.80[EUR][1000 genomes]
rs1283712	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1283716	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1283727	0.83[ASN][1000 genomes]
rs1298936	0.92[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1654750	0.93[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1654751	0.80[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1672165	0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1672166	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2916083	0.83[CEU][hapmap]

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	chr8:108433800-108440400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:108433800-108440400	Weak transcription	NHLF	lung
5	chr8:108434000-108440400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:108434000-108449800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:108434200-108441400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:108434600-108440200	Weak transcription	NHDF-Ad	bronchial
9	chr8:108435800-108439400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:108436000-108439600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:108436000-108442600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:108437400-108441200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:108437600-108439000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:108437800-108439200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:108437800-108439200	Enhancers	Fetal Stomach	stomach
16	chr8:108437800-108439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:108437800-108441200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:108437800-108441400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:108438000-108439000	Enhancers	Adipose Nuclei	Adipose
20	chr8:108438000-108439200	Enhancers	A549	lung
21	chr8:108438000-108439200	Enhancers	Osteobl	bone
22	chr8:108438000-108440400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:108438000-108441400	Enhancers	Fetal Kidney	kidney
24	chr8:108438200-108439000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:108438200-108439200	Enhancers	Fetal Intestine Small	intestine
26	chr8:108438400-108439600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:108438400-108441400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:108438400-108441400	Weak transcription	Right Atrium	heart
29	chr8:108438600-108439000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr8:108438600-108439600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:108438600-108439600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:108438600-108440000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:108438600-108441400	Weak transcription	NH-A	brain
34	chr8:108438800-108439800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:108438800-108439800	Enhancers	Ovary	ovary
36	chr8:108438800-108440400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:108438800-108440800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:108438800-108441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:108438800-108441000	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:108438800-108442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:108438800-108447600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:108438800-108448400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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