Variant report

Variant	rs11888816
Chromosome Location	chr2:30582299-30582300
allele	G/T
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: 0)

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

rs_ID	r²[population]
rs10195381	0.87[ASN][1000 genomes]
rs11891295	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004173	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34115418	0.97[ASN][1000 genomes]
rs34540361	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34689327	0.97[ASN][1000 genomes]
rs34737435	0.86[ASN][1000 genomes]
rs35857367	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56778022	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60473134	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6722899	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

No data

Chromatin state (count:34 , 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	chr2:30574800-30582400	Weak transcription	Spleen	Spleen
4	chr2:30574800-30583600	Weak transcription	Aorta	Aorta
5	chr2:30576200-30582600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:30579800-30584200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:30579800-30584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:30581200-30586000	Enhancers	Fetal Thymus	thymus
9	chr2:30581400-30582800	Enhancers	Thymus	Thymus
10	chr2:30581400-30583600	Enhancers	Right Atrium	heart
11	chr2:30581400-30586000	Enhancers	Placenta	Placenta
12	chr2:30581400-30586200	Enhancers	Left Ventricle	heart
13	chr2:30581400-30586200	Enhancers	Right Ventricle	heart
14	chr2:30581600-30582400	Flanking Active TSS	Fetal Heart	heart
15	chr2:30581600-30583600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:30581600-30586400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:30581600-30586600	Enhancers	Primary T cells from cord blood	blood
18	chr2:30581800-30583200	Enhancers	NHDF-Ad	bronchial
19	chr2:30581800-30583400	Enhancers	Fetal Stomach	stomach
20	chr2:30581800-30583400	Enhancers	Ovary	ovary
21	chr2:30581800-30583800	Enhancers	Pancreas	Pancrea
22	chr2:30581800-30584000	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:30581800-30586200	Enhancers	Lung	lung
24	chr2:30582000-30582400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:30582000-30582800	Enhancers	Fetal Brain Male	brain
26	chr2:30582000-30582800	Enhancers	Fetal Brain Female	brain
27	chr2:30582000-30583400	Enhancers	Colon Smooth Muscle	Colon
28	chr2:30582000-30584200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:30582000-30586200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:30582000-30586400	Enhancers	Adipose Nuclei	Adipose
31	chr2:30582000-30586400	Enhancers	Fetal Lung	lung
32	chr2:30582000-30591600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:30582200-30582800	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:30582200-30583400	Enhancers	NHLF	lung

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