Variant report

Variant	rs1614412
Chromosome Location	chr1:192942291-192942292
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1769060	0.87[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3370913	chr1:192941129-192942377	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
2	chr1:192937800-192946600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:192938000-192943000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:192938000-192943600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:192938000-192943800	Weak transcription	Pancreas	Pancrea
6	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
7	chr1:192938200-192942800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192938400-192944800	Weak transcription	K562	blood
9	chr1:192938800-192943000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:192938800-192943800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:192939000-192942400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:192939200-192942600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:192939200-192946400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:192940600-192943200	Weak transcription	Small Intestine	intestine
15	chr1:192940600-192947600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:192940800-192943800	Weak transcription	HSMMtube	muscle
17	chr1:192942000-192942600	Enhancers	Colon Smooth Muscle	Colon
18	chr1:192942200-192943000	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:192942200-192943200	Weak transcription	NHLF	lung
20	chr1:192942200-192944200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:192942200-192944200	Enhancers	NHDF-Ad	bronchial
22	chr1:192942200-192944400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:192942200-192944400	Enhancers	Osteobl	bone

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