Variant report

Variant	rs1190796
Chromosome Location	chr6:131514468-131514469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10484763	0.80[EUR][1000 genomes]
rs11154622	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11759793	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1190788	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1190794	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1190799	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1190800	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1190801	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1190802	0.98[EUR][1000 genomes]
rs1190805	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1190806	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1190809	0.89[EUR][1000 genomes]
rs1190810	0.98[EUR][1000 genomes]
rs1190812	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11961577	0.81[EUR][1000 genomes]
rs1209159	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200165	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1729549	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1729558	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746469	0.87[EUR][1000 genomes]
rs1746470	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746471	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746473	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1746474	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787964	1.00[ASN][1000 genomes]
rs1885641	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2327102	0.80[EUR][1000 genomes]
rs28360555	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34326915	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34601891	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35561719	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3777474	0.95[EUR][1000 genomes]
rs3777476	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3850239	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3903759	0.91[ASN][1000 genomes]
rs4310080	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56318353	1.00[ASN][1000 genomes]
rs66533103	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67021539	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs749375	0.81[EUR][1000 genomes]
rs9492861	0.91[ASN][1000 genomes]
rs9492864	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9492865	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9492868	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9492874	0.83[ASN][1000 genomes]
rs9492877	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer 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
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131457600-131520800	Weak transcription	Right Ventricle	heart
2	chr6:131488200-131534800	Weak transcription	Gastric	stomach
3	chr6:131505000-131518800	Weak transcription	Thymus	Thymus
4	chr6:131505000-131521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:131505000-131521800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:131505200-131522600	Weak transcription	HSMMtube	muscle
7	chr6:131505800-131534600	Weak transcription	Brain Substantia Nigra	brain
8	chr6:131505800-131534800	Weak transcription	Pancreas	Pancrea
9	chr6:131506000-131515800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:131506400-131520800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:131506600-131520600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:131506600-131520600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:131506600-131520600	Weak transcription	Spleen	Spleen
14	chr6:131506600-131520800	Weak transcription	Lung	lung
15	chr6:131506600-131523800	Weak transcription	HepG2	liver
16	chr6:131506600-131524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:131506600-131529800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:131506600-131532000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:131506800-131518600	Weak transcription	Primary B cells from cord blood	blood
20	chr6:131506800-131551800	Weak transcription	Ovary	ovary
21	chr6:131507000-131520400	Weak transcription	Liver	Liver
22	chr6:131510400-131534800	Weak transcription	Small Intestine	intestine
23	chr6:131512600-131516200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:131512800-131514600	ZNF genes & repeats	Fetal Lung	lung
25	chr6:131513000-131520800	Weak transcription	Aorta	Aorta
26	chr6:131513000-131520800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:131513000-131522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:131513000-131523000	Weak transcription	Placenta	Placenta
29	chr6:131513200-131520600	Weak transcription	Left Ventricle	heart
30	chr6:131513200-131526400	Weak transcription	Fetal Intestine Small	intestine
31	chr6:131513200-131536400	Weak transcription	Esophagus	oesophagus
32	chr6:131513400-131520600	Weak transcription	Fetal Stomach	stomach
33	chr6:131513800-131520200	Weak transcription	Adipose Nuclei	Adipose
34	chr6:131514000-131514600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr6:131514200-131514800	ZNF genes & repeats	Dnd41	blood
36	chr6:131514400-131514600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:131514400-131519800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:131514400-131529800	Weak transcription	Brain Germinal Matrix	brain
39	chr6:131514400-131541400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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