Variant report

Variant	rs56370315
Chromosome Location	chr2:153353223-153353224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59579926	1.00[AMR][1000 genomes]
rs60190638	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61574062	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6759858	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968017	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968031	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968042	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153334400-153353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:153338600-153353400	Weak transcription	NHEK	skin
3	chr2:153340600-153354200	Weak transcription	Small Intestine	intestine
4	chr2:153342600-153355800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:153343000-153360600	Enhancers	Brain Anterior Caudate	brain
6	chr2:153347600-153354200	Weak transcription	Pancreas	Pancrea
7	chr2:153347800-153354400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:153348000-153354200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:153348600-153354200	Weak transcription	Fetal Intestine Large	intestine
10	chr2:153348600-153354200	Weak transcription	Placenta	Placenta
11	chr2:153348600-153357200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:153348800-153354200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:153348800-153370200	Weak transcription	Aorta	Aorta
14	chr2:153350000-153354200	Weak transcription	NHDF-Ad	bronchial
15	chr2:153350200-153354000	Weak transcription	Osteobl	bone
16	chr2:153350400-153354200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:153350400-153357400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:153350800-153354200	Weak transcription	Left Ventricle	heart
19	chr2:153350800-153354200	Weak transcription	Right Ventricle	heart
20	chr2:153350800-153354200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:153350800-153355800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:153350800-153357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:153350800-153360400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:153351000-153353400	Weak transcription	HepG2	liver
25	chr2:153351000-153354000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:153351000-153354000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:153351000-153355600	Weak transcription	Fetal Stomach	stomach
28	chr2:153351200-153353800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:153351200-153355400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:153351400-153354200	Weak transcription	Adipose Nuclei	Adipose
31	chr2:153351400-153355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:153351400-153355400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:153351400-153357600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:153351400-153361000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:153351600-153354000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:153351600-153354200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:153351600-153354200	Weak transcription	Fetal Lung	lung
38	chr2:153351600-153354200	Weak transcription	Right Atrium	heart
39	chr2:153351600-153354600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:153351600-153355200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:153351600-153359600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:153351800-153355200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:153352000-153353600	Weak transcription	HUVEC	blood vessel
44	chr2:153352000-153354000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:153352000-153359800	Enhancers	Brain Substantia Nigra	brain
46	chr2:153352200-153356000	Enhancers	Brain Hippocampus Middle	brain
47	chr2:153352400-153354200	Weak transcription	Ovary	ovary
48	chr2:153352400-153354400	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:153352400-153355200	Weak transcription	Fetal Kidney	kidney
50	chr2:153352600-153353600	Weak transcription	Placenta Amnion	Placenta Amnion

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