Variant report

Variant	rs2636275
Chromosome Location	chr1:179108350-179108351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10913692	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10913693	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10913697	0.82[ASN][1000 genomes]
rs1856968	0.82[ASN][1000 genomes]
rs1858551	0.82[ASN][1000 genomes]
rs2171958	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2171959	0.80[ASN][1000 genomes]
rs2258221	0.81[ASN][1000 genomes]
rs2486995	0.82[ASN][1000 genomes]
rs2486997	0.80[ASN][1000 genomes]
rs2486998	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2493123	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2493124	0.80[ASN][1000 genomes]
rs2636274	0.83[ASN][1000 genomes]
rs2636276	0.83[ASN][1000 genomes]
rs2636277	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2636291	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2791936	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2791940	0.82[ASN][1000 genomes]
rs2791941	0.83[ASN][1000 genomes]
rs2791943	0.83[ASN][1000 genomes]
rs2791944	0.82[ASN][1000 genomes]
rs2791945	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2793790	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2793794	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2793796	0.82[ASN][1000 genomes]
rs2793797	0.82[ASN][1000 genomes]
rs2793798	0.82[ASN][1000 genomes]
rs2793813	0.83[EUR][1000 genomes]
rs2816166	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2816183	0.81[ASN][1000 genomes]
rs2816184	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2816185	0.81[ASN][1000 genomes]
rs2816187	0.82[ASN][1000 genomes]
rs2816191	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2816201	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2816207	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2816218	0.81[EUR][1000 genomes]
rs3829794	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9286921	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9425839	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9662858	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9726961	0.82[ASN][1000 genomes]
rs9727252	0.82[ASN][1000 genomes]
rs9728480	0.82[ASN][1000 genomes]
rs9729129	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[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	nsv1012667	chr1:179094571-179120280	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1002253	chr1:179094571-179120938	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1001191	chr1:179097246-179120938	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 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	chr1:179063200-179112000	Weak transcription	Fetal Kidney	kidney
2	chr1:179079600-179109800	Weak transcription	Small Intestine	intestine
3	chr1:179087800-179113000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:179091000-179108800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:179091000-179109000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:179091000-179109200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:179093400-179117200	Weak transcription	Fetal Stomach	stomach
8	chr1:179096400-179108800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:179096600-179110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:179098200-179112000	Weak transcription	Lung	lung
11	chr1:179099200-179110200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:179099200-179110400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:179099200-179110400	Weak transcription	Brain Anterior Caudate	brain
14	chr1:179099200-179114800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:179099400-179110000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:179099400-179110400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:179099400-179112000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:179099400-179112000	Weak transcription	Left Ventricle	heart
19	chr1:179099600-179109200	Weak transcription	Primary T cells from cord blood	blood
20	chr1:179099600-179109800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:179099600-179109800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:179099600-179110000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:179099600-179110200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:179099600-179110600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:179099600-179110800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:179099600-179116800	Weak transcription	Thymus	Thymus
27	chr1:179099600-179119400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:179099600-179122600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:179099800-179108800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:179099800-179109400	Weak transcription	Primary B cells from cord blood	blood
31	chr1:179099800-179111800	Weak transcription	HepG2	liver
32	chr1:179100000-179108600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:179100000-179121000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:179100200-179110000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:179100600-179110800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:179100600-179112000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:179100600-179117200	Weak transcription	Fetal Intestine Small	intestine
38	chr1:179100800-179110400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:179100800-179110400	Weak transcription	K562	blood
40	chr1:179101000-179109200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:179101000-179110000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:179106000-179108600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:179106800-179108800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:179106800-179109000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:179106800-179110200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:179106800-179110400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:179107000-179109000	Enhancers	HMEC	breast
48	chr1:179107000-179110000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:179107200-179108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:179107200-179108800	Weak transcription	Pancreas	Pancrea

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