Variant report

Variant	rs11161615
Chromosome Location	chr1:85906816-85906817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11161614	0.81[CEU][hapmap]
rs11161616	0.90[CEU][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.89[AMR][1000 genomes]
rs11161617	0.90[CEU][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.88[AMR][1000 genomes]
rs12049529	0.89[AMR][1000 genomes]
rs12129013	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12130380	0.81[CEU][hapmap]
rs12130591	0.83[LWK][hapmap];0.81[MEX][hapmap]
rs12724823	0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11161615	BCL10	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85886400-85914200	Weak transcription	HSMMtube	muscle
2	chr1:85893800-85916800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:85899200-85914800	Weak transcription	Esophagus	oesophagus
4	chr1:85901400-85923000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:85902600-85912200	Weak transcription	Pancreas	Pancrea
6	chr1:85903400-85907000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:85903600-85907000	Enhancers	HepG2	liver
8	chr1:85903600-85907200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:85903600-85907200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:85903600-85907600	Enhancers	NHDF-Ad	bronchial
11	chr1:85903800-85907200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:85903800-85907400	Enhancers	HUVEC	blood vessel
13	chr1:85903800-85907400	Enhancers	NHLF	lung
14	chr1:85903800-85907400	Enhancers	Osteobl	bone
15	chr1:85904400-85907000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:85904400-85914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:85904600-85910200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:85904800-85907200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:85905000-85910200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:85905000-85912400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:85905200-85912000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:85905200-85912600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:85905200-85912800	Weak transcription	Left Ventricle	heart
24	chr1:85905200-85913000	Weak transcription	Fetal Kidney	kidney
25	chr1:85905200-85914800	Weak transcription	Small Intestine	intestine
26	chr1:85905400-85907600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:85905400-85913400	Weak transcription	Fetal Lung	lung
28	chr1:85906000-85907000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:85906000-85907000	Enhancers	Aorta	Aorta
30	chr1:85906000-85907000	Enhancers	Fetal Muscle Leg	muscle
31	chr1:85906000-85907000	Enhancers	Fetal Stomach	stomach
32	chr1:85906200-85907000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:85906200-85907000	Enhancers	Fetal Heart	heart
34	chr1:85906200-85907000	Enhancers	Rectal Smooth Muscle	rectum
35	chr1:85906200-85907200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:85906200-85910200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:85906200-85912400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:85906400-85907000	Enhancers	Right Atrium	heart
39	chr1:85906400-85907200	Enhancers	Liver	Liver
40	chr1:85906600-85907000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:85906600-85907000	Enhancers	Brain Substantia Nigra	brain
42	chr1:85906600-85907000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:85906600-85907000	Enhancers	Stomach Mucosa	stomach
44	chr1:85906600-85907000	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:85906600-85907200	Enhancers	Psoas Muscle	Psoas
46	chr1:85906600-85907200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:85906600-85910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:85906600-85910200	Weak transcription	HSMM	muscle
49	chr1:85906800-85910000	Weak transcription	NH-A	brain
50	chr1:85906800-85910200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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