Variant report

Variant	rs13417833
Chromosome Location	chr2:37865235-37865236
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	chr2:37859378..37862018-chr2:37863759..37867582,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-QPCT-3	chr2:37832379-37870742	NONHSAT070127
2	lnc-QPCT-3	chr2:37864557-37865599	NONHSAT070132

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1013291	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1013292	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10694	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13392288	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13417957	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1468663	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1468664	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17021174	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2072419	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2079998	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2098198	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2109821	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2109822	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2159726	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2191841	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2373290	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2373292	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3731852	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3731854	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4372883	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4594425	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4670745	0.88[ASN][1000 genomes]
rs62135589	0.85[ASN][1000 genomes]
rs6752220	0.82[AMR][1000 genomes]
rs727805	0.86[ASN][1000 genomes]
rs7735	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9742	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37873200	Weak transcription	Liver	Liver
2	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
3	chr2:37857000-37871400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:37857200-37865800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:37857200-37868200	Weak transcription	Psoas Muscle	Psoas
6	chr2:37858000-37868600	Weak transcription	A549	lung
7	chr2:37858400-37867600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:37858800-37871400	Weak transcription	Aorta	Aorta
9	chr2:37859000-37868600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:37859200-37868600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:37860000-37871200	Weak transcription	Gastric	stomach
12	chr2:37860200-37866800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:37860200-37868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:37860400-37865600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:37860400-37865600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:37860400-37867400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:37860800-37867000	Weak transcription	NHLF	lung
18	chr2:37860800-37873000	Weak transcription	Pancreas	Pancrea
19	chr2:37860800-37879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:37861000-37865600	Enhancers	Fetal Thymus	thymus
21	chr2:37861000-37868000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:37861800-37866200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:37862000-37865600	Enhancers	Thymus	Thymus
24	chr2:37862000-37866600	Enhancers	HSMM	muscle
25	chr2:37862000-37867000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:37862000-37869400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:37862200-37865600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:37862200-37866800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:37862200-37867000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:37862200-37867200	Enhancers	NHDF-Ad	bronchial
31	chr2:37862200-37870600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:37862400-37869200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:37862400-37870200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:37862600-37865600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:37862800-37869400	Weak transcription	HUVEC	blood vessel
36	chr2:37863200-37868200	Weak transcription	Right Atrium	heart
37	chr2:37863400-37868000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:37863400-37868200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:37863400-37875000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:37863600-37865600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr2:37863600-37865600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:37863600-37866600	Enhancers	HSMMtube	muscle
43	chr2:37863600-37867000	Weak transcription	NH-A	brain
44	chr2:37863600-37868200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:37863600-37868200	Weak transcription	HMEC	breast
46	chr2:37863600-37868400	Weak transcription	NHEK	skin
47	chr2:37863600-37868800	Weak transcription	Fetal Brain Female	brain
48	chr2:37863600-37871400	Weak transcription	Lung	lung
49	chr2:37863600-37873000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:37864200-37865800	Enhancers	Fetal Heart	heart

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