Variant report

Variant	rs930759
Chromosome Location	chr2:20806442-20806443
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	chr2:20792169..20793794-chr2:20803902..20806488,2	K562	blood:
2	chr2:20645830..20649178-chr2:20802657..20807893,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction
ENSG00000231948	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2305457	0.85[AFR][1000 genomes]
rs4666317	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20797000-20810600	Weak transcription	Colonic Mucosa	Colon
2	chr2:20797600-20810600	Weak transcription	Fetal Kidney	kidney
3	chr2:20797800-20810800	Weak transcription	Gastric	stomach
4	chr2:20799200-20809800	Weak transcription	Spleen	Spleen
5	chr2:20799800-20808600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:20800000-20809200	Weak transcription	Aorta	Aorta
7	chr2:20800000-20809400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:20800200-20808400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:20800400-20809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:20801200-20808400	Weak transcription	HepG2	liver
11	chr2:20803200-20814000	Weak transcription	HSMM	muscle
12	chr2:20804400-20813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:20805200-20808400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:20805200-20808400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:20805200-20808400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:20805200-20808400	Weak transcription	Osteobl	bone
17	chr2:20805200-20808600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:20805200-20808600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:20805200-20808600	Weak transcription	Brain Substantia Nigra	brain
20	chr2:20805200-20808600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:20805200-20808600	Weak transcription	Placenta	Placenta
22	chr2:20805200-20808600	Weak transcription	Fetal Stomach	stomach
23	chr2:20805200-20808600	Weak transcription	Lung	lung
24	chr2:20805200-20808600	Weak transcription	Psoas Muscle	Psoas
25	chr2:20805200-20808600	Weak transcription	Right Atrium	heart
26	chr2:20805200-20808600	Weak transcription	Right Ventricle	heart
27	chr2:20805200-20808600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:20805200-20808600	Weak transcription	NH-A	brain
29	chr2:20805200-20808800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:20805200-20808800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:20805200-20808800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:20805200-20808800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:20805200-20808800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:20805200-20808800	Weak transcription	Esophagus	oesophagus
35	chr2:20805200-20808800	Weak transcription	Ovary	ovary
36	chr2:20805200-20808800	Weak transcription	NHLF	lung
37	chr2:20805200-20813600	Weak transcription	HMEC	breast
38	chr2:20805200-20813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:20805200-20814000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:20805200-20816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:20805400-20808400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:20805400-20808400	Weak transcription	Adipose Nuclei	Adipose
43	chr2:20805400-20808400	Weak transcription	Brain Angular Gyrus	brain
44	chr2:20805400-20808400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:20805400-20808600	Weak transcription	Brain Anterior Caudate	brain
46	chr2:20805400-20808600	Weak transcription	Left Ventricle	heart
47	chr2:20805400-20808600	Weak transcription	NHDF-Ad	bronchial
48	chr2:20805400-20808800	Weak transcription	Brain Germinal Matrix	brain
49	chr2:20805400-20809000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:20805600-20808400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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