Variant report

Variant	rs2941054
Chromosome Location	chr11:34886417-34886418
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34878119..34880348-chr11:34884856..34886591,2	K562	blood:
2	chr11:34618804..34621129-chr11:34885676..34887484,2	K562	blood:
3	chr11:34880661..34882510-chr11:34884203..34886582,2	MCF-7	breast:

Extended variants
information (count: 145 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs1036070	0.85[ASN][1000 genomes]
rs10836322	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11032916	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1117051	0.86[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs1117445	0.85[ASN][1000 genomes]
rs1326944	0.81[ASN][1000 genomes]
rs1326945	0.81[ASN][1000 genomes]
rs1396880	0.86[ASN][1000 genomes]
rs1396881	0.86[ASN][1000 genomes]
rs1409717	0.81[ASN][1000 genomes]
rs1509662	0.82[ASN][1000 genomes]
rs1549789	0.86[ASN][1000 genomes]
rs1553757	0.86[ASN][1000 genomes]
rs1553759	0.92[CHB][hapmap]
rs1553760	0.93[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap]
rs1553761	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs1553762	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs1571135	0.96[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1828298	0.86[ASN][1000 genomes]
rs1960524	0.93[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs1977420	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1991648	0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2016821	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2031686	0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2031687	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2033357	0.85[ASN][1000 genomes]
rs2033358	0.85[ASN][1000 genomes]
rs2033360	0.85[ASN][1000 genomes]
rs2116084	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2116090	0.85[ASN][1000 genomes]
rs2147341	0.82[ASN][1000 genomes]
rs2163374	0.86[ASN][1000 genomes]
rs2163375	0.84[ASN][1000 genomes]
rs2303958	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2303959	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2421743	0.95[ASN][1000 genomes]
rs2915177	0.95[ASN][1000 genomes]
rs2915178	0.94[ASN][1000 genomes]
rs2915179	0.86[ASN][1000 genomes]
rs2915190	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2915193	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2915197	0.81[ASN][1000 genomes]
rs2915198	0.84[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2915201	0.81[ASN][1000 genomes]
rs2915202	0.81[ASN][1000 genomes]
rs2915203	0.81[ASN][1000 genomes]
rs2915204	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2915205	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2915206	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2915208	0.85[ASN][1000 genomes]
rs2915214	0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2915215	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2915216	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2915217	0.93[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2915218	0.85[ASN][1000 genomes]
rs2915225	0.93[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2915226	0.85[ASN][1000 genomes]
rs2915228	0.85[ASN][1000 genomes]
rs2915230	0.85[ASN][1000 genomes]
rs2915231	0.85[ASN][1000 genomes]
rs2915232	0.85[ASN][1000 genomes]
rs2915233	0.85[ASN][1000 genomes]
rs2915234	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2915235	0.85[ASN][1000 genomes]
rs2915236	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2915237	0.84[ASN][1000 genomes]
rs2915238	0.95[ASN][1000 genomes]
rs2941040	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2941041	0.92[ASN][1000 genomes]
rs2941043	0.86[ASN][1000 genomes]
rs2941044	0.92[ASN][1000 genomes]
rs2941048	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2941049	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2941050	0.85[ASN][1000 genomes]
rs2941052	0.85[ASN][1000 genomes]
rs2941056	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2941057	0.95[ASN][1000 genomes]
rs2941058	0.95[ASN][1000 genomes]
rs2941059	0.83[ASN][1000 genomes]
rs2941060	0.88[ASN][1000 genomes]
rs2956074	0.89[ASN][1000 genomes]
rs2956076	0.86[ASN][1000 genomes]
rs2956077	0.89[JPT][hapmap]
rs2956078	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2956079	0.84[ASN][1000 genomes]
rs2956082	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2956083	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2956084	0.85[ASN][1000 genomes]
rs2956086	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs2956087	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2956089	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2956094	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2956095	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2956097	1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2956098	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2956101	0.81[ASN][1000 genomes]
rs2956107	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2956109	0.83[ASN][1000 genomes]
rs2956111	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2956112	0.91[CHB][hapmap]
rs2956113	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2956114	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2956116	0.93[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2956117	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2956118	0.83[ASN][1000 genomes]
rs2956120	0.85[ASN][1000 genomes]
rs2956125	0.93[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2956126	0.81[ASN][1000 genomes]
rs2985150	0.89[JPT][hapmap]
rs2985382	0.92[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2985384	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2985388	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2985390	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2985400	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2985404	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2985405	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2986403	0.89[JPT][hapmap]
rs2986404	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2986405	0.83[JPT][hapmap]
rs2986406	0.89[JPT][hapmap]
rs2986408	0.85[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2986409	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2986410	0.96[CEU][hapmap];0.98[GIH][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2986412	0.81[ASN][1000 genomes]
rs2986413	0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2986414	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2986415	0.83[ASN][1000 genomes]
rs2986416	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2986417	0.83[ASN][1000 genomes]
rs2986419	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2986420	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2986421	0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2986425	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2986426	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2986427	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2986428	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs520658	0.89[JPT][hapmap]
rs724714	0.85[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs891546	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs891550	0.85[ASN][1000 genomes]
rs919554	0.85[ASN][1000 genomes]
rs925289	0.85[ASN][1000 genomes]
rs984690	0.93[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2941054	TRIM44	cis	cerebellum	SCAN
rs2941054	PDHX	Cis_1M	lymphoblastoid	RTeQTL
rs2941054	APIP	trans	brain	seeQTL
rs2941054	PDHX	cis	parietal	SCAN
rs2941054	PDHX	cis	cerebellum	SCAN
rs2941054	APIP	cis	Lymphoblastoid	GTEx
rs2941054	APIP	cis	brain	seeQTL
rs2941054	APIP	cis	multi-tissue	Pritchard
rs2941054	APIP	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34859000-34909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:34872200-34886600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:34876600-34896000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:34877600-34906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:34878200-34891400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:34880200-34898000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:34882000-34919800	Weak transcription	Left Ventricle	heart
8	chr11:34882400-34886600	Weak transcription	Esophagus	oesophagus
9	chr11:34882400-34886800	Weak transcription	Adipose Nuclei	Adipose
10	chr11:34885000-34896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:34885400-34888600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:34885600-34887000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:34885600-34888200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr11:34885600-34888600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr11:34885800-34886600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:34886000-34903200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:34886400-34887200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:34886400-34887600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:34886400-34887600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:34886400-34903400	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links