Variant report

Variant	rs6991687
Chromosome Location	chr8:108439227-108439228
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: 1 )

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

rs_ID	r²[population]
rs11984986	0.82[ASN][1000 genomes]
rs11991529	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12678509	0.97[ASN][1000 genomes]
rs13255500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.93[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13257372	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13263947	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13264356	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13265214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13268748	0.94[ASN][1000 genomes]
rs13272688	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs13276416	0.85[ASN][1000 genomes]
rs13280030	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[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];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13281824	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1433195	1.00[YRI][hapmap]
rs1433196	1.00[YRI][hapmap]
rs16876199	0.82[CHD][hapmap]
rs16876200	0.82[CHD][hapmap]
rs34145387	0.82[ASN][1000 genomes]
rs34562665	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34612085	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71524708	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71562145	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9650030	0.92[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6991687	ABRA	cis	cerebellum	SCAN

Chromatin state (count:41 , 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	chr8:108437800-108439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:108437800-108441200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:108437800-108441400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:108438000-108440400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:108438000-108441400	Enhancers	Fetal Kidney	kidney
18	chr8:108438400-108439600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:108438400-108441400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:108438400-108441400	Weak transcription	Right Atrium	heart
21	chr8:108438600-108439600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:108438600-108439600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:108438600-108440000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:108438600-108441400	Weak transcription	NH-A	brain
25	chr8:108438800-108439800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:108438800-108439800	Enhancers	Ovary	ovary
27	chr8:108438800-108440400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:108438800-108440800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:108438800-108441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:108438800-108441000	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:108438800-108442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:108438800-108447600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:108438800-108448400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:108439000-108439400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:108439000-108439800	Enhancers	Duodenum Mucosa	Duodenum
36	chr8:108439000-108440400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:108439000-108441200	Weak transcription	Adipose Nuclei	Adipose
38	chr8:108439200-108439600	Weak transcription	Fetal Stomach	stomach
39	chr8:108439200-108439600	Weak transcription	A549	lung
40	chr8:108439200-108440800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:108439200-108441000	Weak transcription	Osteobl	bone

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