Variant report

Variant	rs192492
Chromosome Location	chr13:51085697-51085698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1262772	0.92[ASN][1000 genomes]
rs1262774	0.92[ASN][1000 genomes]
rs1262775	0.82[CHB][hapmap]
rs1262778	0.83[CHB][hapmap]
rs157164	0.83[CHB][hapmap]
rs157168	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs157175	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1630605	0.82[CHB][hapmap]
rs1638703	0.91[CHB][hapmap]
rs183949	0.92[CHB][hapmap];0.82[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs183950	0.83[CHB][hapmap]
rs190704	0.93[ASN][1000 genomes]
rs495838	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1835159	chr13:51061044-51091390	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1815534	chr13:51061044-51092946	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1816672	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1830736	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1834352	chr13:51061044-51092946	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1841390	chr13:51061044-51092946	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1843375	chr13:51061044-51092946	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51082800-51086000	Weak transcription	Gastric	stomach
2	chr13:51083200-51086200	Enhancers	HepG2	liver
3	chr13:51083400-51085800	Enhancers	Dnd41	blood
4	chr13:51084000-51086400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:51084200-51086000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:51084200-51086000	Weak transcription	HSMMtube	muscle
7	chr13:51084200-51086200	Weak transcription	HSMM	muscle
8	chr13:51084200-51093200	Weak transcription	Spleen	Spleen
9	chr13:51084400-51086000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:51084400-51086000	Weak transcription	Osteobl	bone
11	chr13:51084400-51086200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:51084400-51086200	Enhancers	Thymus	Thymus
13	chr13:51084400-51086400	Weak transcription	NH-A	brain
14	chr13:51084400-51086600	Weak transcription	HMEC	breast
15	chr13:51084400-51093000	Weak transcription	Lung	lung
16	chr13:51084600-51086000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:51084600-51086400	Enhancers	Primary B cells from peripheral blood	blood
18	chr13:51084600-51086400	Enhancers	Fetal Thymus	thymus
19	chr13:51084800-51086000	Enhancers	K562	blood
20	chr13:51084800-51086000	Weak transcription	NHLF	lung
21	chr13:51084800-51086400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:51085000-51086000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr13:51085000-51086000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr13:51085000-51086000	Weak transcription	Fetal Kidney	kidney
25	chr13:51085200-51086000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:51085200-51086200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr13:51085200-51086600	Enhancers	Left Ventricle	heart
28	chr13:51085400-51086000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr13:51085400-51086000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr13:51085400-51086400	Enhancers	Primary hematopoietic stem cells	blood
31	chr13:51085400-51086400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr13:51085400-51086400	Enhancers	Adipose Nuclei	Adipose
33	chr13:51085400-51086400	Enhancers	NHDF-Ad	bronchial
34	chr13:51085400-51086600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:51085400-51086600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr13:51085400-51086600	Enhancers	Stomach Mucosa	stomach
37	chr13:51085400-51087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:51085600-51086000	Enhancers	Primary B cells from cord blood	blood
39	chr13:51085600-51086000	Enhancers	Brain Substantia Nigra	brain
40	chr13:51085600-51086200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr13:51085600-51086200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr13:51085600-51086200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr13:51085600-51086400	Enhancers	Fetal Intestine Large	intestine
44	chr13:51085600-51086600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr13:51085600-51089200	Enhancers	Fetal Intestine Small	intestine

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