Variant report

Variant	rs11891295
Chromosome Location	chr2:30581939-30581940
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30581763..30583811-chr2:30589547..30591280,2	MCF-7	breast:
2	chr2:30581738..30584056-chr2:30585628..30587536,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10195381	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11888816	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004173	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34115418	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34540361	0.94[ASN][1000 genomes]
rs34689327	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34737435	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35857367	0.94[ASN][1000 genomes]
rs56778022	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60473134	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6722899	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11891295	DNAJC5G	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30570000-30582800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:30570200-30584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:30571600-30582000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:30574800-30582400	Weak transcription	Spleen	Spleen
5	chr2:30574800-30583600	Weak transcription	Aorta	Aorta
6	chr2:30576200-30582600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:30578600-30582200	Weak transcription	NHLF	lung
8	chr2:30579400-30582000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:30579800-30584200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:30579800-30584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:30580600-30582000	Weak transcription	Fetal Lung	lung
12	chr2:30581200-30586000	Enhancers	Fetal Thymus	thymus
13	chr2:30581400-30582800	Enhancers	Thymus	Thymus
14	chr2:30581400-30583600	Enhancers	Right Atrium	heart
15	chr2:30581400-30586000	Enhancers	Placenta	Placenta
16	chr2:30581400-30586200	Enhancers	Left Ventricle	heart
17	chr2:30581400-30586200	Enhancers	Right Ventricle	heart
18	chr2:30581600-30582400	Flanking Active TSS	Fetal Heart	heart
19	chr2:30581600-30583600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:30581600-30586400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:30581600-30586600	Enhancers	Primary T cells from cord blood	blood
22	chr2:30581800-30582000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:30581800-30582000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:30581800-30582000	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:30581800-30583200	Enhancers	NHDF-Ad	bronchial
26	chr2:30581800-30583400	Enhancers	Fetal Stomach	stomach
27	chr2:30581800-30583400	Enhancers	Ovary	ovary
28	chr2:30581800-30583800	Enhancers	Pancreas	Pancrea
29	chr2:30581800-30584000	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:30581800-30586200	Enhancers	Lung	lung

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