Variant report

Variant	rs57244347
Chromosome Location	chr2:174029813-174029814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11888193	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11901996	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35853276	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6433398	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6725795	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73016810	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73023632	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73033228	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73971697	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73974103	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9941608	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:174016200-174048800	Weak transcription	K562	blood
3	chr2:174021600-174030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:174024800-174037200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:174025800-174030000	Weak transcription	Ovary	ovary
6	chr2:174026000-174030600	Weak transcription	Pancreas	Pancrea
7	chr2:174026000-174036800	Weak transcription	Small Intestine	intestine
8	chr2:174026000-174037400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:174026000-174037800	Weak transcription	Aorta	Aorta
10	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:174026200-174035200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:174026200-174036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:174026200-174040600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:174026200-174045000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:174026400-174030200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:174026400-174030400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:174026400-174030600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:174026400-174036600	Weak transcription	NHEK	skin
19	chr2:174026400-174039600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:174026400-174047600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:174026600-174030000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:174026600-174030400	Weak transcription	Psoas Muscle	Psoas
23	chr2:174026600-174030800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:174026600-174037800	Weak transcription	Right Ventricle	heart
25	chr2:174026600-174048800	Weak transcription	Liver	Liver
26	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
27	chr2:174026800-174030200	Weak transcription	Hela-S3	cervix
28	chr2:174027000-174032800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:174027200-174030800	Weak transcription	Fetal Intestine Large	intestine
30	chr2:174028200-174036600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:174028200-174044200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:174028400-174030600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:174028400-174036000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:174028400-174036600	Weak transcription	Adipose Nuclei	Adipose
35	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:174028600-174033200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:174028800-174031000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:174029000-174030800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:174029000-174031000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:174029000-174031200	Enhancers	NHDF-Ad	bronchial
41	chr2:174029000-174032600	Enhancers	NHLF	lung
42	chr2:174029200-174032800	Enhancers	A549	lung
43	chr2:174029400-174030000	Enhancers	Fetal Lung	lung
44	chr2:174029800-174030000	Enhancers	Left Ventricle	heart

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