Variant report

Variant	rs12057161
Chromosome Location	chr1:174862335-174862336
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174861640..174863465-chr1:174967999..174970376,2	MCF-7	breast:
2	chr1:174861794..174864246-chr1:174865246..174868047,2	K562	blood:
3	chr1:174860980..174862757-chr1:174967700..174969508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223525	Chromatin interaction
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10912847	1.00[EUR][1000 genomes]
rs10912851	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912858	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs10912864	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs11806870	1.00[EUR][1000 genomes]
rs12066421	1.00[EUR][1000 genomes]
rs12068625	1.00[EUR][1000 genomes]
rs12070082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075193	1.00[EUR][1000 genomes]
rs12076591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084999	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088650	1.00[EUR][1000 genomes]
rs12094050	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095683	0.90[AMR][1000 genomes]
rs12096717	1.00[EUR][1000 genomes]
rs1231828	1.00[EUR][1000 genomes]
rs1329280	1.00[EUR][1000 genomes]
rs1612104	1.00[EUR][1000 genomes]
rs1618234	1.00[EUR][1000 genomes]
rs1653631	1.00[EUR][1000 genomes]
rs1653633	1.00[EUR][1000 genomes]
rs1653637	1.00[EUR][1000 genomes]
rs16847457	1.00[EUR][1000 genomes]
rs173000	1.00[EUR][1000 genomes]
rs1754356	1.00[EUR][1000 genomes]
rs189141	1.00[EUR][1000 genomes]
rs2116515	1.00[EUR][1000 genomes]
rs2760059	1.00[EUR][1000 genomes]
rs2981891	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2981895	1.00[EUR][1000 genomes]
rs2987871	1.00[EUR][1000 genomes]
rs2987878	1.00[EUR][1000 genomes]
rs3123641	1.00[EUR][1000 genomes]
rs332766	1.00[EUR][1000 genomes]
rs332775	1.00[EUR][1000 genomes]
rs332780	1.00[EUR][1000 genomes]
rs332785	1.00[EUR][1000 genomes]
rs332790	1.00[EUR][1000 genomes]
rs332792	1.00[EUR][1000 genomes]
rs333419	1.00[EUR][1000 genomes]
rs333425	1.00[EUR][1000 genomes]
rs333434	1.00[EUR][1000 genomes]
rs392368	1.00[EUR][1000 genomes]
rs56106555	1.00[EUR][1000 genomes]
rs58238388	1.00[EUR][1000 genomes]
rs59073370	1.00[EUR][1000 genomes]
rs60283543	1.00[EUR][1000 genomes]
rs6672781	1.00[EUR][1000 genomes]
rs6696432	1.00[EUR][1000 genomes]
rs74128516	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][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	chr1:174845000-174862800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:174845000-174863000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:174845200-174862600	Weak transcription	Liver	Liver
7	chr1:174846600-174862800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:174846800-174874000	Weak transcription	Ovary	ovary
9	chr1:174847000-174869200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:174847400-174862800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:174847400-174863000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:174847400-174864400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:174847400-174864600	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr1:174847400-174864600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:174847600-174874400	Weak transcription	Esophagus	oesophagus
16	chr1:174849200-174864400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:174849600-174864400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:174850200-174874800	Weak transcription	Fetal Stomach	stomach
19	chr1:174850400-174869600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:174852000-174873400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:174852800-174864000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:174852800-174874800	Weak transcription	Spleen	Spleen
23	chr1:174853400-174865000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:174853400-174870200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:174854000-174862800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:174854200-174862800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:174855600-174862400	Weak transcription	Small Intestine	intestine
28	chr1:174856400-174862600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:174856600-174866600	Weak transcription	Primary B cells from cord blood	blood
30	chr1:174856800-174876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:174857000-174870800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:174857000-174871200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:174857800-174867200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:174858000-174871200	Weak transcription	Lung	lung
35	chr1:174859000-174868600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:174859000-174874000	Weak transcription	Brain Angular Gyrus	brain
37	chr1:174859400-174863000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:174859400-174866600	Weak transcription	Gastric	stomach
39	chr1:174859600-174867200	Weak transcription	HepG2	liver
40	chr1:174859600-174873400	Weak transcription	K562	blood
41	chr1:174859800-174862600	Weak transcription	Stomach Mucosa	stomach
42	chr1:174860200-174868200	Weak transcription	Fetal Heart	heart
43	chr1:174861200-174863600	Strong transcription	GM12878-XiMat	blood
44	chr1:174861400-174862400	Weak transcription	Fetal Intestine Large	intestine
45	chr1:174861400-174862400	Genic enhancers	Fetal Intestine Small	intestine
46	chr1:174861400-174864400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:174861400-174866600	Weak transcription	Pancreas	Pancrea
48	chr1:174861400-174871200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:174861400-174876200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart

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