Variant report

Variant	rs17772042
Chromosome Location	chr2:211368672-211368673
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10490318	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10804183	0.80[CHB][hapmap]
rs10804184	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10804185	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11888506	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12463895	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12466705	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12468052	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12611623	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12619519	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13031561	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16844534	0.95[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17771664	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17822981	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17824552	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2287424	0.80[CHB][hapmap]
rs2287429	0.80[CHB][hapmap]
rs2287431	0.80[CHB][hapmap]
rs2287432	0.80[CHB][hapmap]
rs2370949	0.80[CHB][hapmap]
rs28485712	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2887899	0.91[CHB][hapmap]
rs3755184	0.80[CHB][hapmap]
rs3845633	0.80[CHB][hapmap]
rs3856339	0.80[CHB][hapmap]
rs4372818	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56098529	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6711129	0.95[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6725303	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6725770	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6725979	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6729280	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6752320	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs725379	0.80[CHB][hapmap]
rs72932418	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72932421	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72932424	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72932427	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72932430	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72932437	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72932439	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72932447	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72932449	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72934320	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72934330	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72934339	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72934370	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7594883	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3459962	chr2:211360526-211368951	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211364200-211370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:211364600-211368800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:211367400-211369000	Enhancers	Hela-S3	cervix
4	chr2:211367600-211368800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:211367800-211368800	Flanking Active TSS	Liver	Liver
6	chr2:211367800-211368800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:211367800-211368800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:211367800-211368800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr2:211368000-211368800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:211368000-211368800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:211368000-211368800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr2:211368000-211368800	Active TSS	Brain Angular Gyrus	brain
13	chr2:211368000-211368800	Active TSS	Brain Anterior Caudate	brain
14	chr2:211368000-211368800	Enhancers	Fetal Stomach	stomach
15	chr2:211368000-211368800	Active TSS	Stomach Smooth Muscle	stomach
16	chr2:211368000-211369000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:211368000-211369000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:211368000-211369000	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr2:211368000-211369000	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr2:211368000-211369000	Active TSS	Fetal Muscle Trunk	muscle
21	chr2:211368000-211369200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:211368200-211368800	Enhancers	Fetal Intestine Large	intestine
23	chr2:211368200-211368800	Enhancers	Osteobl	bone
24	chr2:211368200-211369000	Enhancers	Fetal Intestine Small	intestine
25	chr2:211368400-211368800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:211368400-211368800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:211368400-211368800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:211368400-211368800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:211368400-211368800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:211368400-211368800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr2:211368400-211368800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr2:211368400-211368800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr2:211368400-211368800	Enhancers	HSMM	muscle
34	chr2:211368400-211369000	Enhancers	Pancreas	Pancrea
35	chr2:211368400-211369000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:211368400-211369200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:211368400-211369400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:211368600-211368800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:211368600-211368800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr2:211368600-211368800	Enhancers	Brain Substantia Nigra	brain
41	chr2:211368600-211368800	Flanking Active TSS	Ovary	ovary
42	chr2:211368600-211368800	Flanking Active TSS	Psoas Muscle	Psoas
43	chr2:211368600-211368800	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr2:211368600-211368800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:211368600-211368800	Flanking Active TSS	HSMMtube	muscle
46	chr2:211368600-211369000	Enhancers	Stomach Mucosa	stomach
47	chr2:211368600-211369400	Weak transcription	HepG2	liver
48	chr2:211368600-211370200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:211368600-211370200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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