Variant report

Variant	rs72991600
Chromosome Location	chr6:131542501-131542502
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11759550	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11759731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1190789	0.85[AMR][1000 genomes]
rs1190795	0.85[AMR][1000 genomes]
rs1190803	0.83[AMR][1000 genomes]
rs1190813	0.85[AMR][1000 genomes]
rs11964088	0.85[EUR][1000 genomes]
rs11967060	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1210091	0.85[AMR][1000 genomes]
rs13206072	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13207920	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13213773	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13220796	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34128642	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34409673	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34482355	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35764673	0.84[EUR][1000 genomes]
rs4629710	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56037679	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61369062	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs749376	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv886665	chr6:131518894-131611309	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv830808	chr6:131521115-131735320	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131506800-131551800	Weak transcription	Ovary	ovary
2	chr6:131528000-131544800	Weak transcription	Fetal Brain Male	brain
3	chr6:131534800-131542600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:131535000-131546400	Weak transcription	Thymus	Thymus
5	chr6:131535200-131544000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:131535200-131544200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:131535200-131544600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:131535200-131545400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:131535200-131547000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:131535200-131548800	Weak transcription	Aorta	Aorta
11	chr6:131535200-131562200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:131535400-131543200	Weak transcription	Right Ventricle	heart
13	chr6:131535400-131547000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:131535400-131547600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:131535400-131552400	Weak transcription	HSMM	muscle
16	chr6:131535400-131555200	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:131535600-131545200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:131535600-131546000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:131536000-131548600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:131536600-131545000	Weak transcription	Fetal Stomach	stomach
21	chr6:131536800-131543600	Weak transcription	Esophagus	oesophagus
22	chr6:131536800-131547200	Weak transcription	Pancreas	Pancrea
23	chr6:131536800-131548800	Weak transcription	Lung	lung
24	chr6:131537000-131546000	Weak transcription	Dnd41	blood
25	chr6:131537600-131544400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:131538000-131546000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:131538200-131544400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:131538400-131543200	Weak transcription	Fetal Intestine Large	intestine
29	chr6:131539600-131543200	Weak transcription	Placenta	Placenta
30	chr6:131540600-131543600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:131541200-131542800	Strong transcription	Left Ventricle	heart
32	chr6:131541200-131543200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr6:131541400-131542600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:131541400-131542800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:131541400-131542800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:131541400-131542800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr6:131541400-131543000	Strong transcription	Primary B cells from cord blood	blood
38	chr6:131541400-131543200	Strong transcription	Brain Anterior Caudate	brain
39	chr6:131541400-131543400	Strong transcription	Primary T cells from cord blood	blood
40	chr6:131541400-131543400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:131541600-131546400	Weak transcription	Fetal Thymus	thymus
42	chr6:131542000-131542800	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:131542000-131543000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:131542000-131543000	Strong transcription	Adipose Nuclei	Adipose
45	chr6:131542000-131543200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:131542200-131542600	ZNF genes & repeats	Brain Angular Gyrus	brain
47	chr6:131542200-131542800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:131542200-131543000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr6:131542200-131543000	Strong transcription	Liver	Liver
50	chr6:131542400-131542800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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