Variant report

Variant	rs62133082
Chromosome Location	chr2:37233937-37233938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37232752..37235418-chr2:37239434..37241635,2	K562	blood:
2	chr2:37191677..37193362-chr2:37233119..37235779,2	K562	blood:

Variant related genes	Relation type
ENSG00000008869	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1007823	0.96[ASN][1000 genomes]
rs10495869	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1123648	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11674811	0.87[ASN][1000 genomes]
rs11682782	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11685402	0.83[ASN][1000 genomes]
rs11688446	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11694342	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11895180	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13420311	0.84[ASN][1000 genomes]
rs17020125	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17020136	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17020143	0.87[ASN][1000 genomes]
rs17038861	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2160411	0.91[ASN][1000 genomes]
rs2372788	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770770	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3796041	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4670645	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4670649	0.83[ASN][1000 genomes]
rs59952755	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60572996	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61380056	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61689754	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62133071	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62133077	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62133080	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62133081	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62133104	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62133105	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62133107	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62133108	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62133110	0.83[ASN][1000 genomes]
rs6544050	0.88[ASN][1000 genomes]
rs6709006	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6712162	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6723869	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6728062	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6753260	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9636389	0.89[ASN][1000 genomes]
rs9636428	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9636429	0.85[AMR][1000 genomes];0.84[EUR][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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv581471	chr2:37213186-37257386	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
4	chr2:37211400-37238200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:37214200-37248400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:37216000-37239800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:37219200-37256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:37220000-37239600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:37223200-37236200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:37223400-37236000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:37223600-37235400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:37224000-37234600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:37224000-37236000	Strong transcription	Adipose Nuclei	Adipose
17	chr2:37224000-37236000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:37224000-37238600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:37224200-37235400	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:37224400-37236000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:37224400-37236600	Strong transcription	Left Ventricle	heart
24	chr2:37224600-37248200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:37225200-37236000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:37225200-37236000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:37225200-37239800	Weak transcription	Colonic Mucosa	Colon
28	chr2:37225400-37236000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:37225400-37237000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:37225400-37238800	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:37225800-37234800	Weak transcription	Fetal Kidney	kidney
32	chr2:37226200-37237600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:37226400-37236200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:37226600-37236200	Strong transcription	Placenta	Placenta
35	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:37227400-37239600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:37227800-37236000	Strong transcription	Primary B cells from cord blood	blood
38	chr2:37227800-37246000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:37228000-37247200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:37228400-37234400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:37228600-37236000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:37228600-37236000	Strong transcription	HepG2	liver
43	chr2:37228600-37237000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:37228600-37240600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
46	chr2:37228800-37236000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:37229000-37236000	Strong transcription	Osteobl	bone
48	chr2:37229200-37234400	Strong transcription	HSMMtube	muscle
49	chr2:37229200-37236000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:37229200-37236000	Strong transcription	Fetal Intestine Large	intestine

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