Variant report

Variant	rs1375996
Chromosome Location	chr11:10371109-10371110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13306112	0.85[CHD][hapmap]
rs1562782	0.85[CHD][hapmap]
rs1597450	0.92[ASN][1000 genomes]
rs16907791	1.00[MEX][hapmap]
rs16907823	1.00[MEX][hapmap]
rs2044781	0.92[ASN][1000 genomes]
rs7941320	0.92[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1375996	DNAJC12	trans	lymphoblastoid	seeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10367400-10372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:10368800-10373000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:10369600-10374200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:10369800-10371400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:10369800-10373000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:10369800-10373000	Enhancers	Adipose Nuclei	Adipose
7	chr11:10369800-10374000	Enhancers	HSMM	muscle
8	chr11:10369800-10374000	Enhancers	NHDF-Ad	bronchial
9	chr11:10369800-10374200	Enhancers	NHLF	lung
10	chr11:10369800-10378000	Enhancers	Placenta	Placenta
11	chr11:10370000-10372800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:10370000-10373000	Enhancers	HepG2	liver
13	chr11:10370000-10374200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:10370000-10374200	Enhancers	Osteobl	bone
15	chr11:10370200-10371600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:10370200-10372200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:10370200-10373200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:10370200-10373200	Enhancers	HSMMtube	muscle
19	chr11:10370200-10374200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:10370400-10371600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr11:10370400-10372400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:10370600-10372000	Weak transcription	Fetal Intestine Large	intestine
23	chr11:10370600-10372600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:10370600-10373000	Enhancers	Hela-S3	cervix
25	chr11:10370600-10373000	Enhancers	NH-A	brain
26	chr11:10370600-10373600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:10370600-10374200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:10370600-10374200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:10370800-10371600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:10370800-10372000	Weak transcription	Lung	lung
31	chr11:10370800-10372000	Weak transcription	Pancreas	Pancrea
32	chr11:10370800-10372800	Weak transcription	Fetal Heart	heart
33	chr11:10370800-10373000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:10371000-10371200	Enhancers	Fetal Intestine Small	intestine
35	chr11:10371000-10371800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:10371000-10372000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:10371000-10372200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:10371000-10372800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:10371000-10373600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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