Variant report

Variant	rs10172230
Chromosome Location	chr2:153398476-153398477
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153386397..153388731-chr2:153398232..153400541,2	K562	blood:
2	chr2:153398378..153401093-chr2:153404602..153406288,2	K562	blood:
3	chr2:153395557..153397205-chr2:153397289..153398856,2	MCF-7	breast:
4	chr2:153392705..153395187-chr2:153396758..153399412,2	K562	blood:
5	chr2:153392705..153395187-chr2:153396758..153400553,3	K562	blood:

Variant related genes	Relation type
ENSG00000270776	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10165830	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10168692	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10168793	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10182254	0.91[JPT][hapmap]
rs10209069	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10211164	0.81[ASN][1000 genomes]
rs10931154	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11904088	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12612608	0.91[JPT][hapmap]
rs12619679	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12622731	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13404703	0.90[JPT][hapmap]
rs13427485	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs16831307	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2346182	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2577182	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4664592	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4664593	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs893331	0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs9288108	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]

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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
4	chr2:153386200-153399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:153386200-153399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:153386800-153400000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:153390400-153399000	Enhancers	Brain Substantia Nigra	brain
8	chr2:153391400-153403800	Weak transcription	Fetal Brain Female	brain
9	chr2:153391600-153398800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:153391800-153399000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:153392800-153398800	Weak transcription	Placenta	Placenta
12	chr2:153392800-153400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:153392800-153401200	Weak transcription	Psoas Muscle	Psoas
14	chr2:153392800-153402800	Weak transcription	Fetal Intestine Large	intestine
15	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
16	chr2:153393400-153399000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:153393600-153399000	Weak transcription	Adipose Nuclei	Adipose
18	chr2:153393800-153398600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:153394000-153398600	Weak transcription	Fetal Stomach	stomach
20	chr2:153394000-153398600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:153394000-153399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:153394000-153399200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:153394000-153399200	Weak transcription	Aorta	Aorta
24	chr2:153394000-153399800	Weak transcription	Fetal Lung	lung
25	chr2:153394000-153401400	Weak transcription	Fetal Brain Male	brain
26	chr2:153394200-153398800	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:153394800-153398800	Weak transcription	Lung	lung
28	chr2:153394800-153399000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:153396000-153399000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:153396200-153398800	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:153396400-153399000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:153397400-153399000	Enhancers	NHEK	skin
33	chr2:153397400-153399400	Enhancers	Brain Anterior Caudate	brain
34	chr2:153397400-153399400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:153397600-153400000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:153397600-153400400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:153397600-153400600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:153397800-153399600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:153397800-153399800	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:153398000-153399200	Enhancers	A549	lung
41	chr2:153398000-153399600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr2:153398000-153400200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:153398000-153402800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:153398000-153406800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:153398200-153399400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:153398200-153399400	Enhancers	HepG2	liver
47	chr2:153398200-153399600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:153398200-153400400	Enhancers	HMEC	breast
49	chr2:153398200-153406400	Enhancers	Brain Angular Gyrus	brain
50	chr2:153398400-153399000	Enhancers	HUVEC	blood vessel

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