Variant report

Variant	rs12064209
Chromosome Location	chr1:10326184-10326185
allele	C/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:13)

rs_ID	r²[population]
rs11121540	0.88[EUR][1000 genomes]
rs11121543	1.00[CEU][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11121566	0.83[YRI][hapmap]
rs12069853	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12076005	1.00[CEU][hapmap]
rs12088368	1.00[EUR][1000 genomes]
rs13328720	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4846216	0.94[YRI][hapmap]
rs4846219	0.94[YRI][hapmap]
rs55815752	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6703708	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9782879	1.00[CEU][hapmap]
rs9782938	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10307600-10340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:10311000-10327600	Weak transcription	Aorta	Aorta
4	chr1:10311600-10331200	Weak transcription	Fetal Thymus	thymus
5	chr1:10312600-10327600	Weak transcription	HMEC	breast
6	chr1:10312800-10347200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:10313400-10327400	Weak transcription	Colonic Mucosa	Colon
8	chr1:10313800-10327600	Weak transcription	Right Atrium	heart
9	chr1:10314000-10331800	Weak transcription	K562	blood
10	chr1:10314200-10356400	Weak transcription	Small Intestine	intestine
11	chr1:10314200-10363400	Weak transcription	Fetal Brain Male	brain
12	chr1:10314600-10327400	Weak transcription	Fetal Heart	heart
13	chr1:10314600-10332200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:10314800-10347000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:10315000-10355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:10315400-10327600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:10316400-10337600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:10317400-10337600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:10317400-10337600	Weak transcription	GM12878-XiMat	blood
22	chr1:10317400-10355200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:10317400-10356400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:10317600-10355600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:10318000-10334000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:10318400-10367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:10318800-10329400	Strong transcription	Adipose Nuclei	Adipose
28	chr1:10318800-10334000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:10318800-10334600	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:10319200-10338000	Weak transcription	Primary B cells from cord blood	blood
31	chr1:10319400-10329800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:10320400-10331400	Weak transcription	Fetal Intestine Small	intestine
33	chr1:10320400-10331400	Weak transcription	Dnd41	blood
34	chr1:10320600-10327200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:10320600-10363000	Weak transcription	Gastric	stomach
36	chr1:10321000-10332000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:10321200-10327200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:10321400-10333600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:10321400-10359000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr1:10321600-10328200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:10321600-10340600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:10321800-10329400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:10321800-10353200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:10322000-10328800	Strong transcription	Brain Germinal Matrix	brain
45	chr1:10322000-10340600	Strong transcription	HSMM	muscle
46	chr1:10322200-10337400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:10322400-10326600	Weak transcription	Fetal Intestine Large	intestine
48	chr1:10322400-10327200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:10322400-10335800	Weak transcription	Pancreas	Pancrea
50	chr1:10322400-10337600	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links