Variant report

Variant	rs57696453
Chromosome Location	chr1:209814212-209814213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209810766..209813605-chr1:209813693..209816208,2	K562	blood:
2	chr1:209799563..209802450-chr1:209813916..209816529,2	K562	blood:
3	chr1:209813134..209815855-chr1:209819487..209823509,3	MCF-7	breast:
4	chr1:209800950..209802731-chr1:209813916..209816295,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2072941	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2236895	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2282733	0.81[AMR][1000 genomes]
rs6658887	0.89[EUR][1000 genomes]
rs7519594	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209787400-209816200	Strong transcription	NHEK	skin
2	chr1:209799800-209814600	Strong transcription	Fetal Intestine Small	intestine
3	chr1:209801200-209814800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:209801400-209814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:209801600-209814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:209801600-209818000	Weak transcription	Spleen	Spleen
7	chr1:209801600-209819800	Weak transcription	Lung	lung
8	chr1:209804400-209816600	Weak transcription	Small Intestine	intestine
9	chr1:209805200-209814600	Weak transcription	Adipose Nuclei	Adipose
10	chr1:209805400-209814600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:209805400-209814600	Weak transcription	Right Ventricle	heart
12	chr1:209805400-209816200	Weak transcription	Esophagus	oesophagus
13	chr1:209808000-209814400	Weak transcription	Fetal Stomach	stomach
14	chr1:209808000-209816200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:209808400-209815800	Weak transcription	Colonic Mucosa	Colon
16	chr1:209808600-209814600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:209809400-209814800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:209810200-209814600	Weak transcription	Right Atrium	heart
19	chr1:209811000-209814600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:209811400-209814800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:209811400-209814800	Weak transcription	Psoas Muscle	Psoas
22	chr1:209811800-209814800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:209811800-209814800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:209812000-209814600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:209812200-209814800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:209813200-209814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:209813200-209814800	Weak transcription	Placenta	Placenta
28	chr1:209813200-209814800	Weak transcription	Hela-S3	cervix
29	chr1:209813200-209815000	Weak transcription	Osteobl	bone
30	chr1:209813200-209817400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:209813400-209814400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:209813400-209814800	Weak transcription	Gastric	stomach
33	chr1:209813400-209814800	Weak transcription	Left Ventricle	heart
34	chr1:209813600-209814600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:209813600-209814600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:209813600-209814600	Weak transcription	Fetal Heart	heart
37	chr1:209813600-209814600	Weak transcription	Pancreas	Pancrea
38	chr1:209813600-209814600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:209813600-209814600	Strong transcription	HMEC	breast
40	chr1:209813600-209814800	Weak transcription	Aorta	Aorta
41	chr1:209813600-209814800	Weak transcription	Stomach Mucosa	stomach
42	chr1:209814200-209821400	Enhancers	Fetal Muscle Trunk	muscle
43	chr1:209814200-209825000	Enhancers	Fetal Muscle Leg	muscle

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