Variant report

Variant	rs12076588
Chromosome Location	chr1:95114346-95114347
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	chr1:95098692..95101011-chr1:95110470..95114437,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12061340	0.91[AFR][1000 genomes]
rs12062565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064136	0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064216	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067761	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078423	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57449231	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95108400-95119000	Weak transcription	Right Ventricle	heart
2	chr1:95109200-95114800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:95109200-95114800	Enhancers	HSMM	muscle
4	chr1:95109800-95119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:95110600-95115000	Enhancers	NH-A	brain
6	chr1:95110600-95118800	Weak transcription	Fetal Intestine Large	intestine
7	chr1:95110600-95119000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:95110800-95115400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:95111600-95114600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:95111800-95114600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:95111800-95114600	Enhancers	NHDF-Ad	bronchial
12	chr1:95111800-95114800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:95112000-95114600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:95112000-95114800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:95112200-95119400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:95112400-95114600	Enhancers	Osteobl	bone
17	chr1:95112600-95119000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:95112600-95119000	Weak transcription	Placenta	Placenta
19	chr1:95113000-95114600	Enhancers	Esophagus	oesophagus
20	chr1:95113000-95114600	Enhancers	Fetal Stomach	stomach
21	chr1:95113000-95114600	Enhancers	HSMMtube	muscle
22	chr1:95113000-95119000	Weak transcription	Lung	lung
23	chr1:95113200-95114400	Enhancers	Colonic Mucosa	Colon
24	chr1:95113200-95114400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:95113200-95114600	Enhancers	Ovary	ovary
26	chr1:95113200-95114600	Enhancers	Right Atrium	heart
27	chr1:95113400-95114400	Enhancers	Adipose Nuclei	Adipose
28	chr1:95113400-95114400	Enhancers	Fetal Kidney	kidney
29	chr1:95113400-95114600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:95113400-95114600	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:95113400-95114600	Enhancers	Small Intestine	intestine
32	chr1:95113400-95114600	Enhancers	K562	blood
33	chr1:95113400-95114800	Enhancers	Colon Smooth Muscle	Colon
34	chr1:95113400-95114800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:95113600-95115000	Enhancers	NHLF	lung
36	chr1:95113600-95119000	Weak transcription	Pancreas	Pancrea
37	chr1:95113600-95119200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:95114000-95114400	Flanking Active TSS	Aorta	Aorta
39	chr1:95114000-95114400	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr1:95114000-95114600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:95114000-95114600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:95114000-95114600	Flanking Active TSS	Hela-S3	cervix
43	chr1:95114000-95114800	Enhancers	Stomach Mucosa	stomach
44	chr1:95114200-95114400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:95114200-95114600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:95114200-95114600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:95114200-95114600	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr1:95114200-95114600	Enhancers	Left Ventricle	heart
49	chr1:95114200-95114600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr1:95114200-95114600	Enhancers	Sigmoid Colon	Sigmoid Colon

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