Variant report

Variant	rs13280030
Chromosome Location	chr8:108446403-108446404
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	chr8:108445880..108448507-chr8:108640735..108642972,2	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	0.89[ASN][1000 genomes]
rs11991529	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12678509	0.90[ASN][1000 genomes]
rs13255500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13257372	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13263947	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13264356	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13265214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268748	0.87[ASN][1000 genomes]
rs13272688	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs13276416	0.92[ASN][1000 genomes]
rs13281824	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433195	1.00[YRI][hapmap]
rs1433196	1.00[YRI][hapmap]
rs16876199	0.82[CHD][hapmap]
rs16876200	0.82[CHD][hapmap]
rs34145387	0.89[ASN][1000 genomes]
rs34562665	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34612085	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991687	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]
rs71524708	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71562145	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9650030	1.00[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
rs13280030	ABRA	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108421800-108448200	Weak transcription	Psoas Muscle	Psoas
2	chr8:108434000-108449800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:108438800-108447600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:108438800-108448400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:108439800-108449800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:108440600-108452000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:108441400-108449800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:108441800-108455400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:108442000-108447600	Weak transcription	Ovary	ovary
10	chr8:108442000-108448400	Weak transcription	Aorta	Aorta
11	chr8:108442000-108449800	Weak transcription	Small Intestine	intestine
12	chr8:108442400-108448400	Weak transcription	Adipose Nuclei	Adipose
13	chr8:108442800-108447800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:108442800-108448200	Weak transcription	NHDF-Ad	bronchial
15	chr8:108442800-108448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:108442800-108450000	Weak transcription	Osteobl	bone
17	chr8:108443000-108451800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:108443200-108447600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:108443200-108449400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:108443400-108448400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:108443400-108448800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:108443600-108449000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:108443800-108447400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:108443800-108448600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:108444000-108447400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:108444000-108447600	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:108444000-108448800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:108444000-108448800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:108444000-108449600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:108445400-108446600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:108445400-108446800	Enhancers	HMEC	breast
32	chr8:108445400-108448600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:108446200-108447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:108446200-108449600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:108446400-108447800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:108446400-108448000	Enhancers	Fetal Kidney	kidney

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