Variant report

Variant	rs2994435
Chromosome Location	chr1:85082985-85082986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85081832..85084633-chr1:85159803..85161490,2	K562	blood:
2	chr1:85078939..85082218-chr1:85082659..85086975,4	K562	blood:
3	chr1:84961886..84966476-chr1:85082859..85087991,5	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1417295	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850508	0.97[ASN][1000 genomes]
rs1850509	0.97[ASN][1000 genomes]
rs2007454	0.97[ASN][1000 genomes]
rs2203455	0.82[EUR][1000 genomes]
rs2911589	0.80[GIH][hapmap]
rs2911590	0.81[MEX][hapmap]
rs2911597	0.87[EUR][1000 genomes]
rs2911598	0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs2911599	0.88[EUR][1000 genomes]
rs2911603	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs2911604	0.96[ASN][1000 genomes]
rs2911605	0.96[ASN][1000 genomes]
rs2911607	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911609	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943663	0.96[ASN][1000 genomes]
rs2943671	0.85[EUR][1000 genomes]
rs2945138	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2945140	0.97[ASN][1000 genomes]
rs2945142	0.96[ASN][1000 genomes]
rs2945143	0.88[EUR][1000 genomes]
rs2945145	0.88[EUR][1000 genomes]
rs2945147	0.88[EUR][1000 genomes]
rs2945152	0.82[GIH][hapmap];0.81[MEX][hapmap]
rs2945153	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2994934	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2994937	0.87[EUR][1000 genomes]
rs2994938	0.87[EUR][1000 genomes]
rs880412	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2994435	BCL10	cis	cerebellum	SCAN
rs2994435	SPATA1	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85070400-85085200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:85071600-85085000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:85071800-85084800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:85077200-85085400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:85078000-85084800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:85078400-85085200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:85078600-85085000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:85079000-85085000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:85080200-85086000	Weak transcription	Pancreas	Pancrea
10	chr1:85080200-85086200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:85080400-85084400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:85080400-85085600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:85080600-85085200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:85080800-85084400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:85080800-85086200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:85081200-85085200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:85081400-85085200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:85081800-85085000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:85082000-85083800	Enhancers	Colon Smooth Muscle	Colon
20	chr1:85082400-85086000	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:85082600-85083000	Enhancers	Left Ventricle	heart
22	chr1:85082600-85083800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:85082800-85083000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:85082800-85083400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:85082800-85083600	Enhancers	Fetal Heart	heart
26	chr1:85082800-85086200	Enhancers	Stomach Smooth Muscle	stomach

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