Variant report

Variant	rs2252385
Chromosome Location	chr11:120417190-120417191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120416706..120419405-chr11:120427869..120430423,2	K562	blood:
2	chr11:120415952..120418206-chr11:120428187..120430423,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2248540	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2252244	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2252356	0.94[ASN][1000 genomes]
rs2266133	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2508655	0.87[AMR][1000 genomes]
rs3901366	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1036388	chr11:120395104-120427135	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1053749	chr11:120398643-120417586	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1052932	chr11:120406628-120442955	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2252385	PVRL1	cis	parietal	SCAN
rs2252385	C1QTNF5	cis	parietal	SCAN
rs2252385	DPAGT1	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120398600-120417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:120403800-120418800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:120403800-120418800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:120411800-120417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:120412400-120418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:120412600-120417800	Weak transcription	Fetal Intestine Large	intestine
7	chr11:120412600-120417800	Weak transcription	Fetal Intestine Small	intestine
8	chr11:120413800-120417600	Enhancers	HSMMtube	muscle
9	chr11:120414600-120419200	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:120415400-120419200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:120415600-120417600	Enhancers	Primary B cells from cord blood	blood
12	chr11:120415800-120417200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:120415800-120420800	Enhancers	Fetal Lung	lung
14	chr11:120416000-120417200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:120416000-120417400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:120416400-120418600	Enhancers	Fetal Muscle Trunk	muscle
17	chr11:120416400-120421600	Enhancers	Ovary	ovary
18	chr11:120416400-120422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:120416600-120417200	Enhancers	HSMM	muscle
20	chr11:120416600-120417400	Bivalent Enhancer	Fetal Stomach	stomach
21	chr11:120416600-120418600	Enhancers	Brain Hippocampus Middle	brain
22	chr11:120416600-120419200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:120416600-120419800	Enhancers	Spleen	Spleen
24	chr11:120416600-120420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:120416600-120421000	Enhancers	NHLF	lung
26	chr11:120416600-120421400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:120416600-120422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:120416800-120417200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:120416800-120417400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:120416800-120417400	Enhancers	GM12878-XiMat	blood
31	chr11:120416800-120417600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:120416800-120417600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:120416800-120418000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr11:120416800-120418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:120416800-120418800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:120416800-120419400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr11:120416800-120419600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:120416800-120419800	Enhancers	Left Ventricle	heart
39	chr11:120416800-120419800	Enhancers	NH-A	brain
40	chr11:120416800-120419800	Enhancers	NHDF-Ad	bronchial
41	chr11:120416800-120426200	Enhancers	Placenta	Placenta
42	chr11:120417000-120417200	Enhancers	Hela-S3	cervix
43	chr11:120417000-120417600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:120417000-120417600	Enhancers	Osteobl	bone
45	chr11:120417000-120418000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr11:120417000-120418000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:120417000-120418000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr11:120417000-120418000	Weak transcription	Lung	lung
49	chr11:120417000-120418000	Enhancers	Right Atrium	heart
50	chr11:120417000-120419000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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