Variant report

Variant	rs7578771
Chromosome Location	chr2:191439614-191439615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10182630	0.83[AFR][1000 genomes]
rs2028433	0.83[AFR][1000 genomes]
rs4241291	0.83[AFR][1000 genomes]
rs4343494	0.83[AFR][1000 genomes]
rs4519557	0.83[AFR][1000 genomes]
rs60854973	0.91[AFR][1000 genomes]
rs6751731	0.83[AFR][1000 genomes]
rs72905253	1.00[AMR][1000 genomes]
rs72917127	1.00[AMR][1000 genomes]
rs7571334	0.83[AFR][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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191411000-191443000	Weak transcription	Right Atrium	heart
2	chr2:191427200-191443000	Weak transcription	Right Ventricle	heart
3	chr2:191427600-191441400	Weak transcription	Aorta	Aorta
4	chr2:191433000-191440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:191435400-191443000	Weak transcription	Left Ventricle	heart
6	chr2:191436800-191439800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:191436800-191442800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:191436800-191443000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:191437400-191442800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:191438400-191440400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:191438400-191440800	Weak transcription	Fetal Heart	heart
13	chr2:191438400-191441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:191438400-191441400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:191438400-191442600	Weak transcription	Stomach Mucosa	stomach
16	chr2:191438400-191442800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:191438400-191442800	Weak transcription	Fetal Intestine Small	intestine
18	chr2:191438400-191442800	Weak transcription	Fetal Lung	lung
19	chr2:191438400-191442800	Weak transcription	Small Intestine	intestine
20	chr2:191438600-191440400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:191439200-191441400	Weak transcription	Hela-S3	cervix
22	chr2:191439200-191441400	Weak transcription	K562	blood
23	chr2:191439200-191442600	Weak transcription	Fetal Stomach	stomach
24	chr2:191439400-191440400	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:191439400-191440800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:191439400-191441000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:191439400-191441000	Weak transcription	A549	lung
28	chr2:191439400-191441000	Weak transcription	NHEK	skin
29	chr2:191439400-191441200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:191439400-191441400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:191439400-191441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:191439400-191442600	Weak transcription	HMEC	breast
33	chr2:191439400-191442800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:191439600-191440800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:191439600-191441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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