Variant report

Variant	rs1836918
Chromosome Location	chr3:87032004-87032005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1025631	0.94[CEU][hapmap];0.80[GIH][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs13087787	0.81[TSI][hapmap]
rs13092192	0.84[CEU][hapmap]
rs1370040	0.80[EUR][1000 genomes]
rs1436638	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1436647	0.80[EUR][1000 genomes]
rs1898270	0.84[CEU][hapmap];0.87[GIH][hapmap];0.86[TSI][hapmap]
rs1898274	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2043663	0.94[CEU][hapmap];0.85[GIH][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2118078	0.81[AMR][1000 genomes]
rs2262594	0.80[EUR][1000 genomes]
rs2575746	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2575772	0.84[EUR][1000 genomes]
rs2575774	0.81[EUR][1000 genomes]
rs2575775	0.84[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs2575782	0.80[EUR][1000 genomes]
rs2575783	0.80[EUR][1000 genomes]
rs2660777	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2660796	0.80[EUR][1000 genomes]
rs2660798	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs2660799	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs990159	0.82[AMR][1000 genomes];0.81[EUR][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	nsv534036	chr3:86967129-87283600	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1836918	CHMP2B	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86998800-87036000	Weak transcription	Psoas Muscle	Psoas
2	chr3:87007200-87038400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:87008000-87034200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:87012600-87032600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:87016200-87039000	Weak transcription	Fetal Stomach	stomach
6	chr3:87016800-87036800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:87017600-87039000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:87018200-87032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:87018200-87033600	Weak transcription	A549	lung
10	chr3:87018400-87036400	Weak transcription	Fetal Intestine Large	intestine
11	chr3:87018600-87034200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:87019400-87036600	Weak transcription	Fetal Brain Male	brain
13	chr3:87027800-87032400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:87028000-87033600	Weak transcription	Hela-S3	cervix
15	chr3:87028000-87035600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:87028000-87036200	Weak transcription	HMEC	breast
17	chr3:87028200-87032600	Weak transcription	Placenta	Placenta
18	chr3:87029400-87032800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:87030200-87032800	Enhancers	NHLF	lung
20	chr3:87030200-87036200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:87030800-87033600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:87031000-87033600	Enhancers	Adipose Nuclei	Adipose
23	chr3:87031000-87033600	Enhancers	Fetal Lung	lung
24	chr3:87031400-87032200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:87031400-87033000	Enhancers	Fetal Muscle Leg	muscle
26	chr3:87031400-87033200	Enhancers	HSMMtube	muscle
27	chr3:87031600-87032200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:87031600-87033400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr3:87031600-87039600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:87031800-87032200	Genic enhancers	NH-A	brain
31	chr3:87031800-87032200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr3:87031800-87032200	Flanking Active TSS	Osteobl	bone
33	chr3:87031800-87032400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:87032000-87032200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:87032000-87032200	Flanking Active TSS	HSMM	muscle
36	chr3:87032000-87032400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:87032000-87032400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:87032000-87032400	Flanking Active TSS	Ovary	ovary
39	chr3:87032000-87032600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:87032000-87032800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:87032000-87032800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:87032000-87033000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:87032000-87033000	Enhancers	Aorta	Aorta
44	chr3:87032000-87033200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:87032000-87034000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:87032000-87034800	Enhancers	Colon Smooth Muscle	Colon
47	chr3:87032000-87037400	Enhancers	Rectal Smooth Muscle	rectum

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