Variant report

Variant	rs2345875
Chromosome Location	chr2:153253445-153253446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10460316	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11884490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897348	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12105483	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12986786	0.90[ASN][1000 genomes]
rs16831031	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831043	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34027587	0.86[EUR][1000 genomes]
rs4233659	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4664108	0.86[EUR][1000 genomes]
rs4664111	0.87[TSI][hapmap]
rs4664575	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs60280470	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9917302	0.82[CEU][hapmap]

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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153233800-153255400	Weak transcription	NHEK	skin
2	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:153237400-153255400	Weak transcription	HMEC	breast
4	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
5	chr2:153241200-153255400	Weak transcription	Pancreas	Pancrea
6	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
7	chr2:153247000-153257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:153247200-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:153247400-153255400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:153247800-153258800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:153248800-153253600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:153249200-153253800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:153249200-153254200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:153249600-153255400	Weak transcription	Gastric	stomach
16	chr2:153249600-153255400	Weak transcription	Lung	lung
17	chr2:153249600-153259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:153250000-153254200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:153250400-153257600	Weak transcription	HepG2	liver
20	chr2:153250800-153253600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:153250800-153258800	Weak transcription	Small Intestine	intestine
22	chr2:153251200-153253800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:153251200-153254000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:153251400-153253600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:153251400-153253800	Enhancers	Fetal Brain Male	brain
26	chr2:153251600-153253800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:153251800-153253600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:153251800-153253800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:153252000-153255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:153252400-153253600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:153252400-153258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:153252800-153253600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:153252800-153253600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:153252800-153255600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:153253000-153253600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:153253000-153257200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:153253000-153257600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:153253000-153258400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:153253000-153258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:153253000-153260600	Enhancers	Brain Anterior Caudate	brain
42	chr2:153253200-153253600	Enhancers	Rectal Smooth Muscle	rectum
43	chr2:153253200-153253600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:153253200-153253800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:153253200-153253800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:153253200-153253800	Enhancers	Brain Angular Gyrus	brain
47	chr2:153253200-153253800	Enhancers	Colon Smooth Muscle	Colon
48	chr2:153253200-153253800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:153253200-153253800	Enhancers	HSMMtube	muscle
50	chr2:153253200-153253800	Enhancers	NHDF-Ad	bronchial

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