Variant report

Variant	rs947895
Chromosome Location	chr11:67354406-67354407
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67353656..67356234-chr11:67410446..67412031,2	K562	blood:
2	chr11:67354037..67356908-chr11:67394596..67396788,2	K562	blood:
3	chr11:67353657..67355705-chr11:67384092..67385924,2	K562	blood:
4	chr11:67347575..67355744-chr11:67372717..67376912,13	K562	blood:
5	chr11:67347249..67355748-chr11:67372717..67377095,16	K562	blood:

Variant related genes	Relation type
ENSG00000184224	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000255119	Chromatin interaction
ENSG00000255318	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1079719	0.83[ASN][1000 genomes]
rs10896186	0.81[CEU][hapmap]
rs11601325	1.00[JPT][hapmap]
rs11603735	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11603991	0.92[CEU][hapmap]
rs12421329	0.92[CEU][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap]
rs12790798	0.92[CEU][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap]
rs12793832	0.92[CEU][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap]
rs1531514	0.81[CEU][hapmap]
rs1695	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs17593068	0.85[ASN][1000 genomes]
rs1871034	0.86[JPT][hapmap]
rs1871042	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871043	0.92[CEU][hapmap]
rs2276120	0.86[JPT][hapmap]
rs2370141	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2370142	0.85[ASN][1000 genomes]
rs2370143	0.88[ASN][1000 genomes]
rs2514022	0.87[CEU][hapmap];0.80[GIH][hapmap]
rs3765088	0.81[CEU][hapmap]
rs4024254	0.92[CEU][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap]
rs4084113	1.00[JPT][hapmap]
rs4148959	0.84[CEU][hapmap]
rs4320958	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4465371	1.00[JPT][hapmap]
rs4891	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930210	0.85[CEU][hapmap]
rs4930430	0.86[JPT][hapmap]
rs4930431	0.86[JPT][hapmap]
rs596603	0.81[CEU][hapmap]
rs6591245	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs6591249	0.85[ASN][1000 genomes]
rs6591251	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6591252	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6591254	0.85[ASN][1000 genomes]
rs6591255	0.85[ASN][1000 genomes]
rs6591256	1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs6591258	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103632	0.92[CEU][hapmap]
rs7103713	0.83[ASN][1000 genomes]
rs7106423	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap]
rs7108149	0.89[EUR][1000 genomes]
rs7108426	0.85[ASN][1000 genomes]
rs7114510	1.00[JPT][hapmap]
rs749174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs762803	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7927657	0.85[ASN][1000 genomes]
rs7940813	0.85[ASN][1000 genomes]
rs7941395	1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs7941648	1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs7945035	0.85[ASN][1000 genomes]
rs7945927	0.85[ASN][1000 genomes]
rs7948073	0.88[CEU][hapmap]
rs7948911	0.85[ASN][1000 genomes]
rs7949394	0.81[ASN][1000 genomes]
rs7949587	0.85[ASN][1000 genomes]
rs7952081	0.84[CHB][hapmap]
rs7952248	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs917570	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
11	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
14	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
16	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
19	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
20	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
21	nsv897816	chr11:67353579-67460529	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs947895	RTN3	cis	parietal	SCAN
rs947895	NDUFV1	cis	parietal	SCAN
rs947895	RP11-655M14.12	cis	Muscle Skeletal	GTEx
rs947895	RPS6KB2	cis	lymphoblastoid	seeQTL
rs947895	ATG2A	cis	parietal	SCAN
rs947895	GSTP1	cis	cerebellum	SCAN
rs947895	NUDT8	cis	Heart Left Ventricle	GTEx
rs947895	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx
rs947895	GSTP1	cis	parietal	SCAN
rs947895	SLC29A2	cis	parietal	SCAN
rs947895	DOC2GP	cis	Artery Tibial	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67351800-67358600	Weak transcription	Primary T cells from cord blood	blood
2	chr11:67352200-67354600	Transcr. at gene 5' and 3'	K562	blood
3	chr11:67352200-67354800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:67352200-67354800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
5	chr11:67352200-67355600	Enhancers	Primary B cells from cord blood	blood
6	chr11:67352400-67354600	Genic enhancers	Fetal Muscle Leg	muscle
7	chr11:67352400-67356200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:67352600-67354600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:67352600-67354800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:67352600-67358400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:67352600-67359800	Weak transcription	Right Atrium	heart
12	chr11:67352600-67360200	Weak transcription	Brain Angular Gyrus	brain
13	chr11:67352800-67354600	Strong transcription	Colonic Mucosa	Colon
14	chr11:67352800-67354600	Strong transcription	Right Ventricle	heart
15	chr11:67352800-67354600	Genic enhancers	Spleen	Spleen
16	chr11:67352800-67355800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:67352800-67355800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:67352800-67357000	Weak transcription	NHDF-Ad	bronchial
19	chr11:67353000-67354600	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr11:67353000-67354600	Genic enhancers	Fetal Stomach	stomach
21	chr11:67353000-67355800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:67353000-67357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:67353200-67354600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:67353200-67354600	Strong transcription	Left Ventricle	heart
25	chr11:67353200-67354600	Genic enhancers	Lung	lung
26	chr11:67353200-67355600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:67353200-67355800	Strong transcription	Fetal Lung	lung
28	chr11:67353200-67355800	Strong transcription	Osteobl	bone
29	chr11:67353200-67356200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:67353200-67356200	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:67353200-67357000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:67353200-67357000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:67353200-67357000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:67353200-67357200	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:67353200-67357600	Strong transcription	Adipose Nuclei	Adipose
36	chr11:67353200-67358800	Weak transcription	Fetal Brain Male	brain
37	chr11:67353400-67354600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr11:67353400-67354600	Genic enhancers	Esophagus	oesophagus
39	chr11:67353400-67354600	Genic enhancers	Fetal Intestine Small	intestine
40	chr11:67353400-67354600	Strong transcription	Ovary	ovary
41	chr11:67353400-67354800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:67353400-67355800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:67353400-67355800	Strong transcription	Brain Anterior Caudate	brain
44	chr11:67353400-67355800	Strong transcription	Fetal Intestine Large	intestine
45	chr11:67353400-67355800	Strong transcription	HUVEC	blood vessel
46	chr11:67353400-67356000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:67353400-67356000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:67353400-67356600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:67353400-67356800	Weak transcription	Fetal Heart	heart
50	chr11:67353400-67357000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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