Variant report

Variant	rs62386727
Chromosome Location	chr6:13407436-13407437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13405977..13407729-chr6:13485216..13487161,3	MCF-7	breast:
2	chr6:13400278..13401808-chr6:13406310..13408265,2	MCF-7	breast:
3	chr6:13405420..13408218-chr6:13438666..13440547,2	K562	blood:
4	chr6:13406818..13408886-chr6:13483840..13488220,5	MCF-7	breast:
5	chr6:13406137..13408577-chr6:13573927..13576170,2	MCF-7	breast:
6	chr6:13406145..13408180-chr6:13453724..13455818,2	MCF-7	breast:
7	chr6:13395967..13397504-chr6:13405065..13407928,2	K562	blood:

Variant related genes	Relation type
ENSG00000145990	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000124523	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10807437	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11753720	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11754291	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11758233	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1837701	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2119483	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2327673	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4145562	0.83[EUR][1000 genomes]
rs487607	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs494026	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs500197	0.87[ASN][1000 genomes]
rs513613	0.87[ASN][1000 genomes]
rs520828	0.81[ASN][1000 genomes]
rs523221	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs536916	0.87[ASN][1000 genomes]
rs536998	0.87[ASN][1000 genomes]
rs559612	0.82[ASN][1000 genomes]
rs563662	0.87[ASN][1000 genomes]
rs565013	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62385763	0.83[EUR][1000 genomes]
rs62386724	0.81[ASN][1000 genomes]
rs62386725	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7742086	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs821298	0.87[ASN][1000 genomes]
rs821300	0.87[ASN][1000 genomes]
rs9296672	0.83[EUR][1000 genomes]
rs935061	0.83[EUR][1000 genomes]
rs9357720	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9463764	0.83[EUR][1000 genomes]
rs9474117	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13401800-13419000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:13403600-13409600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:13404000-13408800	Enhancers	Brain Angular Gyrus	brain
4	chr6:13404000-13409000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr6:13404400-13407800	Enhancers	NHLF	lung
6	chr6:13404400-13408200	Enhancers	Brain Cingulate Gyrus	brain
7	chr6:13404400-13408800	Enhancers	Adipose Nuclei	Adipose
8	chr6:13404400-13408800	Enhancers	Left Ventricle	heart
9	chr6:13404400-13408800	Enhancers	Psoas Muscle	Psoas
10	chr6:13404400-13408800	Enhancers	Right Atrium	heart
11	chr6:13404400-13409000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:13404400-13411400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:13404800-13408600	Enhancers	Spleen	Spleen
14	chr6:13405000-13407600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:13405000-13410200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:13405000-13418400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:13405000-13421800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:13405200-13407600	Weak transcription	NHEK	skin
19	chr6:13405200-13408800	Enhancers	Brain Anterior Caudate	brain
20	chr6:13405400-13407600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:13405400-13407600	Weak transcription	NH-A	brain
22	chr6:13405400-13407800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:13405400-13409800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:13405400-13410400	Weak transcription	Aorta	Aorta
25	chr6:13405600-13407600	Enhancers	K562	blood
26	chr6:13405600-13408600	Enhancers	Fetal Muscle Leg	muscle
27	chr6:13406000-13408600	Enhancers	Duodenum Mucosa	Duodenum
28	chr6:13406000-13408800	Enhancers	Primary B cells from cord blood	blood
29	chr6:13406000-13408800	Enhancers	Lung	lung
30	chr6:13406000-13408800	Enhancers	Right Ventricle	heart
31	chr6:13406200-13407800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr6:13406200-13409000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:13406400-13408800	Flanking Active TSS	HepG2	liver
34	chr6:13406600-13407800	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr6:13406600-13408000	Enhancers	Small Intestine	intestine
36	chr6:13406600-13408600	Enhancers	Colon Smooth Muscle	Colon
37	chr6:13406600-13408800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:13406600-13409000	Enhancers	Esophagus	oesophagus
39	chr6:13406800-13408800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr6:13406800-13409000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:13406800-13409000	Enhancers	HMEC	breast
42	chr6:13407000-13408000	Enhancers	HSMMtube	muscle
43	chr6:13407000-13408600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:13407000-13408600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:13407000-13408600	Enhancers	Fetal Lung	lung
46	chr6:13407000-13408600	Enhancers	Gastric	stomach
47	chr6:13407000-13408600	Enhancers	Pancreas	Pancrea
48	chr6:13407000-13408800	Strong transcription	GM12878-XiMat	blood
49	chr6:13407200-13407600	Enhancers	Stomach Smooth Muscle	stomach
50	chr6:13407200-13408000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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