Variant report

Variant	rs12069057
Chromosome Location	chr1:174866612-174866613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10912844	0.93[AFR][1000 genomes]
rs10912849	0.95[LWK][hapmap];0.91[YRI][hapmap]
rs10912850	0.91[YRI][hapmap]
rs12058943	1.00[YRI][hapmap]
rs12067259	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12084218	0.90[AFR][1000 genomes]
rs12090265	0.88[AFR][1000 genomes]
rs12095410	1.00[ASW][hapmap]
rs12724695	1.00[JPT][hapmap]
rs16847563	0.95[LWK][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs16847576	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs16847633	0.85[LWK][hapmap]
rs16847706	0.95[LWK][hapmap];0.81[YRI][hapmap]
rs35435376	1.00[AFR][1000 genomes]
rs61828117	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174844800-174871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:174844800-174874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:174844800-174877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:174846800-174874000	Weak transcription	Ovary	ovary
5	chr1:174847000-174869200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:174847600-174874400	Weak transcription	Esophagus	oesophagus
7	chr1:174850200-174874800	Weak transcription	Fetal Stomach	stomach
8	chr1:174850400-174869600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:174852000-174873400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:174852800-174874800	Weak transcription	Spleen	Spleen
11	chr1:174853400-174870200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:174856800-174876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:174857000-174870800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:174857000-174871200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:174857800-174867200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:174858000-174871200	Weak transcription	Lung	lung
17	chr1:174859000-174868600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:174859000-174874000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:174859600-174867200	Weak transcription	HepG2	liver
20	chr1:174859600-174873400	Weak transcription	K562	blood
21	chr1:174860200-174868200	Weak transcription	Fetal Heart	heart
22	chr1:174861400-174871200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:174861400-174876200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart
25	chr1:174862800-174882400	Weak transcription	Fetal Lung	lung
26	chr1:174863200-174883200	Weak transcription	Small Intestine	intestine
27	chr1:174863400-174881400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:174863600-174868400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:174863600-174873800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:174863600-174874200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:174863800-174869600	Weak transcription	Primary T cells from cord blood	blood
32	chr1:174863800-174876000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:174863800-174883000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:174864200-174882000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:174864600-174874000	Weak transcription	Aorta	Aorta
36	chr1:174866400-174867400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:174866400-174868400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:174866600-174866800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr1:174866600-174866800	Enhancers	Gastric	stomach
40	chr1:174866600-174867000	ZNF genes & repeats	GM12878-XiMat	blood
41	chr1:174866600-174867200	Genic enhancers	Fetal Intestine Small	intestine
42	chr1:174866600-174867200	Enhancers	Pancreas	Pancrea
43	chr1:174866600-174867600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:174866600-174868200	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:174866600-174868400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:174866600-174868400	Enhancers	Fetal Intestine Large	intestine
47	chr1:174866600-174868400	Enhancers	Stomach Mucosa	stomach
48	chr1:174866600-174868600	Enhancers	Liver	Liver
49	chr1:174866600-174868800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:174866600-174869000	Strong transcription	Primary B cells from cord blood	blood

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