Variant report

Variant	rs62193406
Chromosome Location	chr2:231314093-231314094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:231310357-231315156	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:231314015-231314211	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:231310306-231315168	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:231313954-231315130	GM12892	blood:	n/a	n/a
5	POLR2A	chr2:231313966-231314982	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:231313914-231315009	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:231313972-231315035	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
SP100	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10178594	0.98[ASN][1000 genomes]
rs10191957	0.81[ASN][1000 genomes]
rs10205096	0.82[ASN][1000 genomes]
rs1156156	0.91[ASN][1000 genomes]
rs11675846	0.96[ASN][1000 genomes]
rs13398034	0.85[ASN][1000 genomes]
rs13406769	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411586	0.83[ASN][1000 genomes]
rs1427283	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1559987	0.94[ASN][1000 genomes]
rs3754945	0.88[ASN][1000 genomes]
rs58742879	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58941251	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60304451	0.88[ASN][1000 genomes]
rs62192251	0.88[ASN][1000 genomes]
rs62193374	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193375	0.88[ASN][1000 genomes]
rs62193377	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193379	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193407	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193410	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9678342	0.82[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
2	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
3	chr2:231301400-231314400	Weak transcription	Psoas Muscle	Psoas
4	chr2:231301800-231345000	Weak transcription	A549	lung
5	chr2:231303200-231317200	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr2:231304400-231320800	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:231306000-231314400	Weak transcription	Esophagus	oesophagus
8	chr2:231306600-231323400	Weak transcription	K562	blood
9	chr2:231306800-231318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:231307400-231317600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:231307400-231318200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:231307400-231321800	Strong transcription	Liver	Liver
13	chr2:231307600-231315000	Strong transcription	Fetal Muscle Leg	muscle
14	chr2:231307600-231315000	Strong transcription	Left Ventricle	heart
15	chr2:231307600-231315400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr2:231307600-231316600	Strong transcription	Primary hematopoietic stem cells	blood
17	chr2:231307600-231318200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:231307600-231319600	Strong transcription	Dnd41	blood
19	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr2:231307800-231315000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:231307800-231315000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:231307800-231315200	Strong transcription	HSMMtube	muscle
23	chr2:231307800-231318400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:231308000-231315000	Strong transcription	Fetal Intestine Small	intestine
25	chr2:231308000-231315200	Strong transcription	HSMM	muscle
26	chr2:231308000-231315800	Strong transcription	Placenta	Placenta
27	chr2:231308200-231315000	Strong transcription	Fetal Intestine Large	intestine
28	chr2:231308200-231316000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:231308400-231314800	Strong transcription	Gastric	stomach
30	chr2:231308400-231318000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr2:231308600-231315000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:231308600-231318000	Strong transcription	Osteobl	bone
33	chr2:231308600-231318200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:231308800-231314600	Strong transcription	NHDF-Ad	bronchial
35	chr2:231308800-231315000	Strong transcription	NHEK	skin
36	chr2:231308800-231316200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:231308800-231316200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:231308800-231320800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:231308800-231337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:231308800-231337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:231309200-231315000	Strong transcription	Fetal Stomach	stomach
42	chr2:231309200-231315000	Strong transcription	Ovary	ovary
43	chr2:231309200-231315000	Strong transcription	Pancreas	Pancrea
44	chr2:231309200-231315000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr2:231309400-231316000	Strong transcription	NHLF	lung
46	chr2:231309600-231314200	Weak transcription	Small Intestine	intestine
47	chr2:231309600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:231309800-231316000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:231310000-231316600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:231310400-231315000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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