Variant report

Variant	rs12614608
Chromosome Location	chr2:153331546-153331547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10166703	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10173398	0.94[ASN][1000 genomes]
rs10193625	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10195380	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10432494	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11892232	0.95[ASN][1000 genomes]
rs11892859	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11893683	0.95[ASN][1000 genomes]
rs12617686	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623070	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2068886	0.87[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2346204	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881336	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4471845	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613221	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736639	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6737006	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7425826	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7590079	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9288103	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153320800-153331600	Enhancers	Hela-S3	cervix
2	chr2:153324800-153340000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:153326000-153331600	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:153326200-153332600	Weak transcription	Adipose Nuclei	Adipose
5	chr2:153326200-153333000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153326200-153334200	Enhancers	Brain Anterior Caudate	brain
7	chr2:153326200-153339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:153328000-153333200	Enhancers	Psoas Muscle	Psoas
10	chr2:153328200-153332400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:153328400-153332600	Weak transcription	Aorta	Aorta
12	chr2:153328600-153332400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:153328600-153334600	Enhancers	Brain Substantia Nigra	brain
14	chr2:153329000-153337200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:153329000-153337800	Weak transcription	Fetal Stomach	stomach
16	chr2:153329200-153331800	Enhancers	Brain Hippocampus Middle	brain
17	chr2:153329200-153340000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:153329400-153337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:153329400-153338000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:153329600-153332400	Weak transcription	Brain Angular Gyrus	brain
21	chr2:153329600-153333600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:153329600-153337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:153329600-153338200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:153329600-153338200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:153329600-153340000	Weak transcription	Ovary	ovary
26	chr2:153329800-153332200	Weak transcription	Left Ventricle	heart
27	chr2:153329800-153332400	Weak transcription	NHEK	skin
28	chr2:153330000-153332800	Weak transcription	Small Intestine	intestine
29	chr2:153330200-153331800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:153330200-153337200	Weak transcription	Fetal Kidney	kidney
31	chr2:153330200-153339400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:153330400-153333600	Enhancers	A549	lung
33	chr2:153330400-153334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:153330600-153332400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:153330600-153332600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:153330800-153332200	Weak transcription	Placenta	Placenta
37	chr2:153330800-153334000	Weak transcription	Liver	Liver
38	chr2:153330800-153334600	Enhancers	HepG2	liver
39	chr2:153330800-153336200	Weak transcription	Pancreas	Pancrea
40	chr2:153330800-153337200	Weak transcription	Fetal Lung	lung
41	chr2:153330800-153337200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:153330800-153342400	Weak transcription	Stomach Mucosa	stomach
43	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:153331000-153332400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:153331200-153337800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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