Variant report

Variant	rs893245
Chromosome Location	chr2:100814893-100814894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10167029	0.93[ASN][1000 genomes]
rs10167279	0.94[ASN][1000 genomes]
rs10194635	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10865035	0.90[ASN][1000 genomes]
rs1160542	0.93[ASN][1000 genomes]
rs1160544	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11676922	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11677053	0.87[ASN][1000 genomes]
rs11687241	0.91[CHB][hapmap]
rs11689199	0.85[CHB][hapmap]
rs11689201	0.91[CHB][hapmap]
rs12712073	0.83[ASN][1000 genomes]
rs2309837	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4851267	0.87[CHB][hapmap]
rs4851269	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4851273	0.83[ASN][1000 genomes]
rs6542920	0.84[ASN][1000 genomes]
rs6712515	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6722241	0.82[ASN][1000 genomes]
rs6740612	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6740838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754937	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7580200	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs893246	0.84[ASN][1000 genomes]
rs9653442	0.83[AMR][1000 genomes];0.93[ASN][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100809600-100815600	Enhancers	Fetal Lung	lung
2	chr2:100811800-100816600	Enhancers	Lung	lung
3	chr2:100812200-100815600	Enhancers	Right Ventricle	heart
4	chr2:100812200-100816000	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:100812400-100815600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:100812400-100815600	Enhancers	Left Ventricle	heart
7	chr2:100812400-100815800	Enhancers	Placenta	Placenta
8	chr2:100812600-100815800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:100812800-100815600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:100812800-100815800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:100813400-100815000	Enhancers	Fetal Heart	heart
12	chr2:100813400-100815200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr2:100813400-100815400	Enhancers	Fetal Intestine Large	intestine
14	chr2:100813400-100815400	Enhancers	Fetal Stomach	stomach
15	chr2:100813400-100816200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:100813400-100817000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:100813600-100815200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:100813600-100815200	Enhancers	HSMM	muscle
19	chr2:100813600-100815400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:100813600-100815600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:100813600-100815600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:100813600-100815600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:100813600-100815600	Enhancers	Fetal Intestine Small	intestine
24	chr2:100813600-100815600	Enhancers	HSMMtube	muscle
25	chr2:100813600-100815600	Enhancers	NHDF-Ad	bronchial
26	chr2:100813600-100815800	Enhancers	Ovary	ovary
27	chr2:100813600-100816200	Enhancers	Right Atrium	heart
28	chr2:100813600-100816200	Enhancers	HUVEC	blood vessel
29	chr2:100813800-100815400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:100813800-100815400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:100813800-100815600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:100813800-100815600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:100814000-100815200	Enhancers	Liver	Liver
34	chr2:100814000-100815200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:100814000-100815400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:100814000-100815600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:100814000-100815800	Enhancers	NH-A	brain
38	chr2:100814200-100815200	Enhancers	Fetal Brain Female	brain
39	chr2:100814200-100815200	Enhancers	Stomach Mucosa	stomach
40	chr2:100814200-100815200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr2:100814200-100815600	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:100814200-100815600	Enhancers	Brain Hippocampus Middle	brain
43	chr2:100814200-100815600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:100814200-100815600	Enhancers	Fetal Kidney	kidney
45	chr2:100814200-100815600	Enhancers	Gastric	stomach
46	chr2:100814200-100815600	Enhancers	Psoas Muscle	Psoas
47	chr2:100814200-100815800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:100814200-100815800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:100814400-100815000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:100814400-100815400	Enhancers	Rectal Mucosa Donor 31	rectum

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