Variant report

Variant	rs6562912
Chromosome Location	chr13:76150931-76150932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12866456	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1323696	0.80[ASN][1000 genomes]
rs1535726	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2031235	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2031236	0.92[JPT][hapmap]
rs2296146	0.92[JPT][hapmap]
rs2328962	0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2328963	0.93[JPT][hapmap];0.96[YRI][hapmap]
rs2328964	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs3783028	0.92[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs3812845	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3812846	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3818355	0.92[JPT][hapmap];0.92[YRI][hapmap]
rs4539477	1.00[ASN][1000 genomes]
rs4611344	0.93[JPT][hapmap];0.96[YRI][hapmap]
rs4884008	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4885308	0.85[JPT][hapmap]
rs4885312	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4885313	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4885314	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4885322	0.92[JPT][hapmap];0.96[YRI][hapmap]
rs4885323	0.92[JPT][hapmap];0.96[YRI][hapmap]
rs4885324	0.90[JPT][hapmap];0.92[YRI][hapmap]
rs4885328	0.83[EUR][1000 genomes]
rs61960594	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6562913	0.80[AFR][1000 genomes]
rs6562915	0.92[JPT][hapmap];0.96[YRI][hapmap]
rs6562916	0.92[JPT][hapmap];0.96[YRI][hapmap]
rs6562920	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7139740	0.80[AFR][1000 genomes]
rs7139862	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7317250	0.92[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes]
rs7317893	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7319441	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7324195	0.93[JPT][hapmap];0.96[YRI][hapmap]
rs7326807	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7331205	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7339146	0.90[JPT][hapmap]
rs7358977	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7982517	0.93[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs7996884	0.93[JPT][hapmap];0.96[YRI][hapmap]
rs8192741	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8192746	0.80[ASN][1000 genomes]
rs8192747	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8192748	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192750	1.00[ASN][1000 genomes]
rs8192751	0.80[ASN][1000 genomes]
rs8192753	0.97[ASN][1000 genomes]
rs8192763	0.93[JPT][hapmap];0.89[YRI][hapmap]
rs9318357	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318358	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543976	1.00[JPT][hapmap]
rs9543980	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543990	0.93[JPT][hapmap];0.96[YRI][hapmap]
rs9543999	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9565175	0.80[ASN][1000 genomes]
rs9565177	0.93[JPT][hapmap]
rs9573584	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs966058	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs966059	0.99[ASN][1000 genomes]
rs974373	0.81[AFR][1000 genomes]
rs975938	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv900566	chr13:76123678-76153748	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv900567	chr13:76123678-76156136	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv900568	chr13:76123678-76159104	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv900569	chr13:76123678-76167433	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv900570	chr13:76123678-76176680	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv900572	chr13:76130761-76156136	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv900573	chr13:76130761-76159104	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv562347	chr13:76132240-76153415	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv900574	chr13:76132484-76156136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv900575	chr13:76132484-76159104	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv900576	chr13:76132484-76176680	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv900577	chr13:76132484-76207565	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
19	nsv900578	chr13:76136976-76167433	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76124600-76183000	Weak transcription	Small Intestine	intestine
2	chr13:76124800-76164000	Weak transcription	Spleen	Spleen
3	chr13:76124800-76167600	Weak transcription	Gastric	stomach
4	chr13:76124800-76170600	Weak transcription	Colonic Mucosa	Colon
5	chr13:76125000-76156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:76125000-76158000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:76125000-76192800	Weak transcription	Brain Substantia Nigra	brain
8	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
9	chr13:76125200-76173800	Weak transcription	Fetal Heart	heart
10	chr13:76125200-76177800	Weak transcription	Stomach Mucosa	stomach
11	chr13:76125400-76191000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:76125600-76158000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:76125600-76182000	Weak transcription	Fetal Brain Male	brain
14	chr13:76129400-76151400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:76129400-76158000	Weak transcription	Fetal Kidney	kidney
16	chr13:76129400-76180400	Weak transcription	Thymus	Thymus
17	chr13:76129600-76157800	Weak transcription	Fetal Brain Female	brain
18	chr13:76129600-76158000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:76129600-76158000	Weak transcription	Esophagus	oesophagus
20	chr13:76129600-76164000	Weak transcription	Ovary	ovary
21	chr13:76130400-76164200	Weak transcription	K562	blood
22	chr13:76133000-76158000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr13:76133200-76158000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:76135400-76164000	Weak transcription	Pancreas	Pancrea
25	chr13:76139800-76151200	Strong transcription	Placenta	Placenta
26	chr13:76140200-76158200	Weak transcription	NHDF-Ad	bronchial
27	chr13:76140600-76151400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:76141600-76158000	Weak transcription	A549	lung
29	chr13:76141800-76151800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:76141800-76178400	Weak transcription	HepG2	liver
31	chr13:76142200-76158600	Weak transcription	Fetal Lung	lung
32	chr13:76142200-76164000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr13:76143000-76151800	Strong transcription	HSMM	muscle
34	chr13:76143200-76151400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:76143200-76151600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr13:76143600-76151200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:76144000-76192400	Weak transcription	NHLF	lung
38	chr13:76144200-76151800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:76144200-76194400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr13:76144400-76176800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr13:76144600-76151200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:76144600-76151400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:76145400-76151800	Strong transcription	Fetal Thymus	thymus
44	chr13:76146800-76156200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr13:76147200-76151200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr13:76147600-76158600	Weak transcription	Brain Hippocampus Middle	brain
47	chr13:76147800-76158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:76148000-76152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr13:76148000-76152800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:76148000-76154400	Weak transcription	Fetal Muscle Trunk	muscle

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