Variant report

Variant	rs9395112
Chromosome Location	chr6:45682806-45682807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45677669..45679804-chr6:45680986..45684570,3	MCF-7	breast:
2	chr6:44443146..44444036-chr6:45682199..45683153,3	K562	blood:
3	chr6:45521508..45523893-chr6:45680263..45683412,3	MCF-7	breast:
4	chr6:45576012..45577453-chr6:45682215..45682831,4	MCF-7	breast:
5	chr6:45389636..45391094-chr6:45682177..45683079,4	MCF-7	breast:
6	chr6:45576668..45578877-chr6:45680174..45683422,3	MCF-7	breast:
7	chr6:45386507..45391476-chr6:45680273..45684660,9	MCF-7	breast:
8	chr6:45576232..45577212-chr6:45682162..45682912,2	MCF-7	breast:
9	chr6:44622937..44623879-chr6:45682256..45683116,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12525547	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12665312	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1388243	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs16873698	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1932040	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs9349326	0.90[CEU][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes]
rs9369573	0.88[AMR][1000 genomes]
rs9381394	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9395112	CAPN11	cis	parietal	SCAN
rs9395112	ABCC10	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45678000-45683400	Enhancers	HSMM	muscle
2	chr6:45678800-45683200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:45679000-45683200	Enhancers	Hela-S3	cervix
4	chr6:45680200-45684800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:45681400-45683000	Enhancers	NHDF-Ad	bronchial
6	chr6:45681600-45683000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:45681600-45683200	Enhancers	GM12878-XiMat	blood
8	chr6:45681600-45683200	Enhancers	HSMMtube	muscle
9	chr6:45681800-45683000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr6:45681800-45683000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:45681800-45683000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:45681800-45683200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:45681800-45683200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:45681800-45683200	Enhancers	NH-A	brain
15	chr6:45681800-45683400	Enhancers	Dnd41	blood
16	chr6:45682000-45683000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:45682000-45683000	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:45682000-45683000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:45682000-45683000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:45682000-45683000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:45682000-45683000	Enhancers	NHLF	lung
22	chr6:45682000-45683200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:45682000-45683400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:45682000-45683400	Enhancers	Fetal Thymus	thymus
25	chr6:45682000-45684400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:45682200-45683000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:45682200-45683000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:45682200-45683000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:45682200-45683000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:45682200-45683000	Enhancers	Primary T cells from cord blood	blood
31	chr6:45682200-45683000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr6:45682200-45683000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:45682200-45683000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:45682200-45683000	Bivalent Enhancer	Fetal Stomach	stomach
35	chr6:45682200-45683000	Enhancers	Stomach Mucosa	stomach
36	chr6:45682200-45683000	Enhancers	HMEC	breast
37	chr6:45682200-45683200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:45682200-45683400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:45682200-45690600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:45682400-45683000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr6:45682400-45683000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr6:45682400-45683000	Enhancers	Colon Smooth Muscle	Colon
43	chr6:45682400-45683400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:45682400-45683400	Enhancers	Fetal Intestine Large	intestine
45	chr6:45682400-45683400	Enhancers	Fetal Intestine Small	intestine
46	chr6:45682600-45683000	Enhancers	Brain Hippocampus Middle	brain
47	chr6:45682600-45683000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:45682600-45683000	Enhancers	Duodenum Mucosa	Duodenum
49	chr6:45682600-45683200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:45682600-45683400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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