Variant report

Variant	rs9288108
Chromosome Location	chr2:153386833-153386834
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153386397..153388731-chr2:153398232..153400541,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10165830	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10168692	0.85[AMR][1000 genomes]
rs10168793	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10172230	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10182254	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10188611	0.88[ASN][1000 genomes]
rs10209069	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10211164	0.92[ASN][1000 genomes]
rs10931154	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11904088	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12612608	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12613219	0.90[ASN][1000 genomes]
rs12619679	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12619706	0.90[ASN][1000 genomes]
rs12622731	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13404703	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs13427485	0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16831307	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2346182	0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.93[ASN][1000 genomes]
rs2577182	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4664592	0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4664593	0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7581544	0.90[ASN][1000 genomes]
rs893331	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153376000-153388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:153376600-153390600	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:153381200-153388200	Enhancers	Brain Hippocampus Middle	brain
5	chr2:153381200-153388200	Enhancers	Brain Substantia Nigra	brain
6	chr2:153382400-153393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:153382800-153387000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:153383000-153387400	Weak transcription	Fetal Kidney	kidney
10	chr2:153383000-153387800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:153383000-153388000	Weak transcription	Psoas Muscle	Psoas
12	chr2:153383000-153390800	Weak transcription	Ovary	ovary
13	chr2:153383000-153391000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:153383000-153391200	Weak transcription	Aorta	Aorta
15	chr2:153383000-153392000	Weak transcription	Lung	lung
16	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
17	chr2:153383200-153388400	Weak transcription	NHDF-Ad	bronchial
18	chr2:153383200-153393200	Weak transcription	NHEK	skin
19	chr2:153383600-153391400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:153384000-153398200	Weak transcription	HMEC	breast
21	chr2:153384200-153387200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:153384600-153388000	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:153384800-153387000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:153384800-153388000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:153385000-153387000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:153385000-153387000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:153385000-153387000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:153385000-153387800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:153385200-153387600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:153385400-153388400	Enhancers	Brain Anterior Caudate	brain
31	chr2:153385600-153387000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:153385600-153390600	Weak transcription	HepG2	liver
33	chr2:153386200-153387000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:153386200-153387000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:153386200-153399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:153386200-153399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:153386400-153388200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:153386600-153387600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:153386600-153388000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:153386600-153391400	Weak transcription	Brain Angular Gyrus	brain
41	chr2:153386800-153387200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:153386800-153387800	Enhancers	Stomach Mucosa	stomach
43	chr2:153386800-153390600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:153386800-153392200	Weak transcription	Fetal Stomach	stomach
45	chr2:153386800-153400000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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