Variant report

Variant	rs6731738
Chromosome Location	chr2:153330971-153330972
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10169514	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10191361	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11902693	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12471183	0.81[EUR][1000 genomes]
rs1878632	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2346206	0.81[EUR][1000 genomes]
rs3811574	0.83[EUR][1000 genomes]
rs4664586	0.87[AFR][1000 genomes]
rs55882252	0.81[EUR][1000 genomes]
rs62180804	0.80[EUR][1000 genomes]
rs6742066	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6744391	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6759772	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153320800-153331600	Enhancers	Hela-S3	cervix
2	chr2:153324400-153331000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:153324800-153340000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:153326000-153331600	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:153326200-153332600	Weak transcription	Adipose Nuclei	Adipose
6	chr2:153326200-153333000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:153326200-153334200	Enhancers	Brain Anterior Caudate	brain
8	chr2:153326200-153339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:153327400-153331400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:153328000-153333200	Enhancers	Psoas Muscle	Psoas
12	chr2:153328200-153332400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:153328400-153332600	Weak transcription	Aorta	Aorta
14	chr2:153328600-153332400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:153328600-153334600	Enhancers	Brain Substantia Nigra	brain
16	chr2:153329000-153337200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:153329000-153337800	Weak transcription	Fetal Stomach	stomach
18	chr2:153329200-153331800	Enhancers	Brain Hippocampus Middle	brain
19	chr2:153329200-153340000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:153329400-153337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:153329400-153338000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:153329600-153332400	Weak transcription	Brain Angular Gyrus	brain
23	chr2:153329600-153333600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:153329600-153337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:153329600-153338200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:153329600-153338200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:153329600-153340000	Weak transcription	Ovary	ovary
28	chr2:153329800-153332200	Weak transcription	Left Ventricle	heart
29	chr2:153329800-153332400	Weak transcription	NHEK	skin
30	chr2:153330000-153332800	Weak transcription	Small Intestine	intestine
31	chr2:153330200-153331800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:153330200-153337200	Weak transcription	Fetal Kidney	kidney
33	chr2:153330200-153339400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:153330400-153333600	Enhancers	A549	lung
35	chr2:153330400-153334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:153330600-153332400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:153330600-153332600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:153330800-153331200	Weak transcription	Lung	lung
39	chr2:153330800-153332200	Weak transcription	Placenta	Placenta
40	chr2:153330800-153334000	Weak transcription	Liver	Liver
41	chr2:153330800-153334600	Enhancers	HepG2	liver
42	chr2:153330800-153336200	Weak transcription	Pancreas	Pancrea
43	chr2:153330800-153337200	Weak transcription	Fetal Lung	lung
44	chr2:153330800-153337200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:153330800-153342400	Weak transcription	Stomach Mucosa	stomach
46	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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