Variant report

Variant	rs2186731
Chromosome Location	chr11:105953525-105953526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:105944340..105947220-chr11:105952969..105954869,2	K562	blood:
2	chr11:105952957..105954833-chr11:105963131..105964990,2	K562	blood:

Variant related genes	Relation type
ENSG00000149313	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10791780	0.85[CHB][hapmap]
rs10895899	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10895900	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];0.81[TSI][hapmap]
rs10895904	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11226915	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11226922	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11226931	0.84[ASN][1000 genomes]
rs12365489	0.85[CHB][hapmap]
rs17105049	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs1893174	0.95[CHB][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1939798	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1939799	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1940772	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2155340	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3740869	0.85[CHB][hapmap]
rs4237618	0.84[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4440991	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4474407	0.85[CHB][hapmap]
rs4485076	0.81[EUR][1000 genomes]
rs4565867	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754141	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7130759	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7131047	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs754562	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap]
rs7554	0.85[CHB][hapmap]
rs766717	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap]
rs9651674	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs9943677	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2186731	AASDHPPT	Cis_1M	lymphoblastoid	RTeQTL
rs2186731	AASDHPPT	cis	lymphoblastoid	seeQTL
rs2186731	MMP12	cis	cerebellum	SCAN
rs2186731	KDELC2	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105949000-105973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:105949200-105956800	Weak transcription	Aorta	Aorta
3	chr11:105949200-105962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:105949200-105966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:105949200-105967800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:105949200-105969800	Weak transcription	Lung	lung
7	chr11:105949200-105971600	Weak transcription	Esophagus	oesophagus
8	chr11:105949400-105953600	Enhancers	Fetal Heart	heart
9	chr11:105949800-105956800	Weak transcription	Pancreas	Pancrea
10	chr11:105949800-105962200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:105949800-105962200	Weak transcription	Thymus	Thymus
12	chr11:105950000-105953600	Genic enhancers	Primary T cells from cord blood	blood
13	chr11:105950000-105953600	Genic enhancers	HepG2	liver
14	chr11:105950200-105953600	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr11:105950200-105953800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr11:105950200-105954000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:105950200-105956400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:105950400-105953600	Genic enhancers	Brain Inferior Temporal Lobe	brain
19	chr11:105950400-105953800	Strong transcription	Osteobl	bone
20	chr11:105950400-105954200	Strong transcription	NH-A	brain
21	chr11:105950400-105954600	Strong transcription	HSMM	muscle
22	chr11:105950400-105955000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:105950400-105955000	Strong transcription	NHEK	skin
24	chr11:105950400-105955200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:105950400-105955200	Weak transcription	Fetal Stomach	stomach
26	chr11:105950400-105955600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:105950400-105957200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:105950400-105958000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:105950400-105971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:105950600-105953600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:105950600-105953600	Genic enhancers	Brain Cingulate Gyrus	brain
32	chr11:105950600-105953600	Genic enhancers	Fetal Lung	lung
33	chr11:105950600-105954000	Strong transcription	NHDF-Ad	bronchial
34	chr11:105950600-105954400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:105950600-105955000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:105950600-105957800	Weak transcription	Stomach Mucosa	stomach
37	chr11:105950600-105958000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:105950600-105969400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:105950800-105954000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:105950800-105954000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:105950800-105954000	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:105950800-105954000	Strong transcription	HMEC	breast
43	chr11:105950800-105954400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:105950800-105954400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:105950800-105955000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:105950800-105956200	Strong transcription	Fetal Thymus	thymus
47	chr11:105951000-105954000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:105951000-105954000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:105951000-105954000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:105951000-105954600	Strong transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links