Variant report

Variant	rs4482487
Chromosome Location	chr2:110349511-110349512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10195867	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036317	1.00[ASN][1000 genomes]
rs1036318	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10496432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006297	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412327	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811388	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28464093	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28553892	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28570680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28599496	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28696274	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3213866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34111852	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34269507	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34311530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34441132	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34517320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120088	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392016	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35531839	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35550721	1.00[ASN][1000 genomes]
rs35955221	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953721	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953730	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953788	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953847	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4953848	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4953849	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4953853	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55794045	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56794190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58031484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594050	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6709945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737736	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6751785	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72824772	0.88[EUR][1000 genomes]
rs72824788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824789	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72824796	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824800	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330317	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330321	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750931	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9751648	0.83[EUR][1000 genomes]
rs9752531	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9798179	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110293400-110352200	Weak transcription	Gastric	stomach
2	chr2:110297400-110351600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:110302200-110357600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:110308400-110363400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:110308600-110358600	Weak transcription	Small Intestine	intestine
6	chr2:110309800-110351600	Weak transcription	Pancreas	Pancrea
7	chr2:110310200-110351600	Weak transcription	Fetal Brain Male	brain
8	chr2:110310400-110351600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:110310400-110351800	Weak transcription	Fetal Brain Female	brain
10	chr2:110310400-110353800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:110310400-110363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:110319200-110367400	Weak transcription	HSMMtube	muscle
13	chr2:110319400-110358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:110320600-110354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:110324000-110370400	Weak transcription	Esophagus	oesophagus
16	chr2:110324600-110362200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:110329000-110369000	Weak transcription	Ovary	ovary
18	chr2:110329200-110359400	Weak transcription	NHLF	lung
19	chr2:110329200-110369400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:110329400-110359600	Weak transcription	NHDF-Ad	bronchial
21	chr2:110329600-110351200	Weak transcription	HMEC	breast
22	chr2:110329600-110351600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:110329800-110351600	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:110332200-110352600	Weak transcription	Fetal Lung	lung
25	chr2:110338600-110354600	Weak transcription	Right Atrium	heart
26	chr2:110338600-110357600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:110338800-110352600	Weak transcription	Fetal Intestine Large	intestine
28	chr2:110341000-110351600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:110341600-110359400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:110341800-110359000	Weak transcription	Fetal Kidney	kidney
31	chr2:110342800-110351600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:110343400-110350000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:110343400-110352000	Weak transcription	NH-A	brain
34	chr2:110343400-110357600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:110343400-110357600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:110343400-110358000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:110343400-110358200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:110343400-110358600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:110343400-110358800	Weak transcription	Adipose Nuclei	Adipose
40	chr2:110343400-110362200	Weak transcription	Psoas Muscle	Psoas
41	chr2:110343400-110362200	Weak transcription	Osteobl	bone
42	chr2:110343600-110364400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:110344000-110357600	Weak transcription	Left Ventricle	heart
44	chr2:110344000-110358600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:110344400-110355000	Weak transcription	Aorta	Aorta
46	chr2:110344400-110358200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:110344400-110365800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:110344600-110362200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:110345400-110350800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:110345600-110349800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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