Variant report

Variant	rs60869707
Chromosome Location	chr2:86023846-86023847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85928909..85931848-chr2:86021884..86024213,2	K562	blood:
2	chr2:85998096..86001212-chr2:86021812..86025448,3	MCF-7	breast:
3	chr2:86015229..86018634-chr2:86021632..86024903,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10205074	1.00[EUR][1000 genomes]
rs13429794	1.00[EUR][1000 genomes]
rs1370543	1.00[EUR][1000 genomes]
rs1370544	1.00[EUR][1000 genomes]
rs1518988	1.00[EUR][1000 genomes]
rs2001594	1.00[EUR][1000 genomes]
rs2049016	1.00[EUR][1000 genomes]
rs28646873	1.00[AMR][1000 genomes]
rs56790095	1.00[EUR][1000 genomes]
rs59512984	1.00[EUR][1000 genomes]
rs60990198	1.00[EUR][1000 genomes]
rs6707971	1.00[EUR][1000 genomes]
rs6727176	1.00[EUR][1000 genomes]
rs72928918	1.00[EUR][1000 genomes]
rs72928927	1.00[EUR][1000 genomes]
rs72928930	1.00[EUR][1000 genomes]
rs72928931	1.00[EUR][1000 genomes]
rs72928938	1.00[EUR][1000 genomes]
rs72928941	1.00[EUR][1000 genomes]
rs72928947	1.00[EUR][1000 genomes]
rs72928948	1.00[EUR][1000 genomes]
rs72928951	1.00[EUR][1000 genomes]
rs72928954	1.00[EUR][1000 genomes]
rs72930750	1.00[EUR][1000 genomes]
rs7605132	1.00[EUR][1000 genomes]
rs7608987	1.00[EUR][1000 genomes]
rs934776	1.00[EUR][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	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv979290	chr2:86015956-86029004	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86015400-86024800	Enhancers	Brain Angular Gyrus	brain
2	chr2:86016000-86026200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr2:86016800-86024400	Enhancers	Fetal Brain Male	brain
4	chr2:86017200-86024600	Enhancers	A549	lung
5	chr2:86017200-86024800	Enhancers	Brain Cingulate Gyrus	brain
6	chr2:86017400-86024800	Enhancers	Brain Substantia Nigra	brain
7	chr2:86017800-86025200	Enhancers	Adipose Nuclei	Adipose
8	chr2:86018600-86024600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:86018800-86024200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:86018800-86024600	Enhancers	Colon Smooth Muscle	Colon
11	chr2:86018800-86024600	Enhancers	Fetal Lung	lung
12	chr2:86018800-86027000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:86019000-86024400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:86019000-86024600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:86019200-86024800	Enhancers	HSMMtube	muscle
16	chr2:86019400-86025400	Enhancers	Fetal Muscle Leg	muscle
17	chr2:86019600-86024600	Enhancers	Brain Germinal Matrix	brain
18	chr2:86019600-86024800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:86019600-86024800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:86019600-86025000	Enhancers	Fetal Heart	heart
21	chr2:86019800-86024400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:86019800-86025400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:86020000-86028200	Enhancers	Liver	Liver
24	chr2:86021000-86024600	Enhancers	Right Ventricle	heart
25	chr2:86021000-86024800	Enhancers	Ovary	ovary
26	chr2:86021000-86025400	Enhancers	Right Atrium	heart
27	chr2:86021400-86024000	Enhancers	Placenta	Placenta
28	chr2:86021400-86024600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr2:86021400-86024800	Enhancers	Left Ventricle	heart
30	chr2:86021400-86026200	Weak transcription	Hela-S3	cervix
31	chr2:86021600-86024400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:86021600-86024600	Enhancers	Lung	lung
33	chr2:86021800-86024000	Weak transcription	Stomach Mucosa	stomach
34	chr2:86021800-86024200	Enhancers	Colonic Mucosa	Colon
35	chr2:86022000-86024000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:86022000-86024400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:86022200-86024200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:86022200-86024600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:86022400-86024000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr2:86022400-86024400	Enhancers	NHLF	lung
41	chr2:86022400-86024800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr2:86022400-86033800	Weak transcription	Gastric	stomach
43	chr2:86022600-86024000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:86022600-86024600	Bivalent Enhancer	Fetal Stomach	stomach
45	chr2:86022800-86024000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:86022800-86024400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:86022800-86024400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:86023000-86024400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:86023000-86024400	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:86023000-86024400	Enhancers	Rectal Smooth Muscle	rectum

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