Variant report

Variant	rs11682335
Chromosome Location	chr2:32160816-32160817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32155525..32158035-chr2:32158686..32161450,2	K562	blood:
2	chr2:32160268..32161970-chr2:32165690..32167478,2	K562	blood:
3	chr2:32153176..32157787-chr2:32159365..32162125,4	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13403364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160793	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs160796	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs160810	0.94[AFR][1000 genomes]
rs191961	1.00[AMR][1000 genomes]
rs2093300	1.00[AMR][1000 genomes]
rs2116030	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs221195	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs223619	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs223623	1.00[CEU][hapmap]
rs223624	1.00[CEU][hapmap]
rs223654	1.00[AMR][1000 genomes]
rs223663	1.00[AMR][1000 genomes]
rs223664	1.00[CEU][hapmap]
rs483796	1.00[CEU][hapmap]
rs486754	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs490226	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4952202	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap]
rs502824	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs533970	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs552555	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs559693	1.00[AMR][1000 genomes]
rs591625	0.81[EUR][1000 genomes]
rs624859	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs631826	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6543650	1.00[CEU][hapmap]
rs7589874	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap]
rs7593078	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7600278	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs806149	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong 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	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv508718	chr2:32154215-32172810	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
3	chr2:32086600-32174400	Weak transcription	NHLF	lung
4	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
5	chr2:32107200-32167600	Weak transcription	Left Ventricle	heart
6	chr2:32116200-32173000	Weak transcription	HSMMtube	muscle
7	chr2:32116800-32166200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:32116800-32169400	Weak transcription	Small Intestine	intestine
9	chr2:32116800-32182200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:32117000-32205200	Weak transcription	NH-A	brain
11	chr2:32118600-32170600	Weak transcription	Gastric	stomach
12	chr2:32119200-32181400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:32126200-32170400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:32127400-32190200	Weak transcription	Lung	lung
15	chr2:32127600-32165600	Weak transcription	Dnd41	blood
16	chr2:32127800-32169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:32128400-32170200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:32130200-32165800	Weak transcription	Esophagus	oesophagus
19	chr2:32132400-32183000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:32134200-32167600	Weak transcription	Brain Germinal Matrix	brain
21	chr2:32134600-32166800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:32136600-32188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:32137000-32167000	Weak transcription	A549	lung
24	chr2:32137000-32168000	Weak transcription	Adipose Nuclei	Adipose
25	chr2:32137000-32170000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:32137000-32189200	Weak transcription	Fetal Kidney	kidney
27	chr2:32137200-32166200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:32137200-32167600	Weak transcription	Ovary	ovary
29	chr2:32137600-32168000	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:32139200-32173600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:32143000-32166800	Weak transcription	NHDF-Ad	bronchial
32	chr2:32143000-32172000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:32143400-32161400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:32143400-32167200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:32145000-32166400	Weak transcription	Fetal Lung	lung
36	chr2:32145000-32183000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:32145200-32164800	Weak transcription	NHEK	skin
38	chr2:32145200-32165600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:32145200-32167000	Weak transcription	Osteobl	bone
40	chr2:32145200-32167600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:32145200-32167600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:32145200-32170200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:32145200-32173600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:32145200-32190800	Weak transcription	Pancreas	Pancrea
45	chr2:32145400-32165000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:32146200-32165600	Weak transcription	HMEC	breast
47	chr2:32146400-32165800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:32146400-32183400	Weak transcription	Psoas Muscle	Psoas
49	chr2:32148200-32166800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:32148200-32170400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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