Variant report

Variant	rs17121283
Chromosome Location	chr12:44185593-44185594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44175577..44177667-chr12:44185276..44186808,2	K562	blood:
2	chr12:44182100..44184228-chr12:44185171..44187535,2	K562	blood:
3	chr12:44185411..44187121-chr12:44187640..44190140,2	K562	blood:
4	chr12:44184294..44187268-chr12:44231050..44232657,2	MCF-7	breast:
5	chr12:44176167..44177953-chr12:44185218..44186808,2	K562	blood:
6	chr12:44182633..44185125-chr12:44185195..44187189,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10506231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10785462	0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs10880571	0.97[ASN][1000 genomes]
rs10880573	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182269	0.91[CEU][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs11182273	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MKK][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs11182275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11182280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11182290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11182293	0.81[CHB][hapmap]
rs11182325	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs11556066	0.91[EUR][1000 genomes]
rs1358705	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1406787	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1609549	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1614042	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1621279	0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs1622590	0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs1675764	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1675772	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1675781	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1675785	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1675787	0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs1675789	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs17093754	1.00[MEX][hapmap]
rs1731423	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1731427	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1731431	0.88[CHB][hapmap]
rs1731432	0.89[CHB][hapmap]
rs1731434	0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs1731454	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs1731456	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1731457	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1731458	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1731459	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2447113	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2614394	0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs35980560	0.91[EUR][1000 genomes]
rs3764004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4251466	1.00[MEX][hapmap]
rs4251473	1.00[MEX][hapmap]
rs4354753	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4363674	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4609659	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4768053	0.90[CHB][hapmap]
rs5019975	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs6582484	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093785	0.91[EUR][1000 genomes]
rs7955615	0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs7968199	0.92[ASN][1000 genomes]
rs7972025	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]

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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17121283	PUS7L	cis	lymphoblastoid	seeQTL
rs17121283	DBX2	cis	cerebellum	SCAN
rs17121283	PUS7L	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44154200-44189600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:44154200-44189600	Weak transcription	A549	lung
3	chr12:44154200-44194400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:44154200-44199200	Weak transcription	Gastric	stomach
5	chr12:44154400-44189400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:44154400-44189400	Weak transcription	Fetal Kidney	kidney
7	chr12:44154600-44189400	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:44154600-44199000	Weak transcription	Stomach Mucosa	stomach
9	chr12:44156600-44189400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:44159000-44189000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:44159200-44188600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:44159400-44187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:44166600-44197200	Weak transcription	Fetal Brain Male	brain
14	chr12:44167600-44189600	Weak transcription	Hela-S3	cervix
15	chr12:44168600-44189600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:44169400-44189600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:44169400-44189800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:44173200-44189400	Weak transcription	HepG2	liver
19	chr12:44173600-44187400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:44175000-44199000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:44175000-44199000	Weak transcription	Right Ventricle	heart
22	chr12:44175200-44189600	Weak transcription	Psoas Muscle	Psoas
23	chr12:44175400-44189400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:44175400-44189400	Weak transcription	K562	blood
25	chr12:44176600-44189800	Weak transcription	Fetal Brain Female	brain
26	chr12:44176800-44189400	Weak transcription	HMEC	breast
27	chr12:44177000-44189800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:44177400-44189600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:44177400-44196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:44178200-44189000	Weak transcription	NH-A	brain
31	chr12:44178400-44189400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:44178400-44189800	Weak transcription	NHLF	lung
33	chr12:44178600-44189200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:44178600-44189400	Weak transcription	Colonic Mucosa	Colon
35	chr12:44178800-44187000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:44178800-44188800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:44178800-44189000	Weak transcription	HSMMtube	muscle
38	chr12:44179000-44187200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:44179000-44189400	Weak transcription	Fetal Lung	lung
40	chr12:44179000-44189400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:44179000-44189400	Weak transcription	Small Intestine	intestine
42	chr12:44179200-44189600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:44179400-44189600	Weak transcription	Brain Substantia Nigra	brain
44	chr12:44179800-44187000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:44179800-44189600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:44180000-44189400	Weak transcription	HUVEC	blood vessel
47	chr12:44180400-44188400	Weak transcription	NHDF-Ad	bronchial
48	chr12:44180800-44188600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:44181400-44188600	Weak transcription	Osteobl	bone
50	chr12:44181400-44189000	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links