Variant report

Variant	rs62384665
Chromosome Location	chr6:4908632-4908633
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4897821..4901952-chr6:4908622..4912007,3	MCF-7	breast:
2	chr6:4907717..4910185-chr6:4913859..4916843,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1891045	0.85[EUR][1000 genomes]
rs1891046	0.90[ASN][1000 genomes]
rs4960046	0.85[EUR][1000 genomes]
rs4960047	0.95[ASN][1000 genomes]
rs62384662	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62384663	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62386584	0.83[AMR][1000 genomes]
rs62386585	0.83[AMR][1000 genomes]
rs62386591	0.83[AMR][1000 genomes]
rs62386593	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62386594	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62386612	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62386614	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6924037	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7742807	0.89[ASN][1000 genomes]
rs808608	0.86[EUR][1000 genomes]
rs9378917	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9378919	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9392640	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9392641	0.80[ASN][1000 genomes]
rs9405786	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4882800-4909000	Weak transcription	Brain Anterior Caudate	brain
2	chr6:4890600-4913800	Weak transcription	Hela-S3	cervix
3	chr6:4893200-4912600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:4893400-4909000	Weak transcription	Brain Angular Gyrus	brain
5	chr6:4893600-4910200	Weak transcription	Esophagus	oesophagus
6	chr6:4893600-4914000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:4895000-4917000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:4895200-4909000	Weak transcription	Adipose Nuclei	Adipose
9	chr6:4898800-4910200	Weak transcription	Psoas Muscle	Psoas
10	chr6:4899000-4909000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:4899200-4913000	Weak transcription	Ovary	ovary
12	chr6:4900000-4913600	Weak transcription	Brain Substantia Nigra	brain
13	chr6:4900200-4915200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:4900200-4918800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:4901600-4913400	Strong transcription	Fetal Stomach	stomach
16	chr6:4902000-4918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr6:4902400-4910000	Weak transcription	Pancreas	Pancrea
18	chr6:4902400-4910200	Weak transcription	Liver	Liver
19	chr6:4903400-4912600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:4904200-4913800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:4904200-4914400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:4904400-4909000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:4904800-4910600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:4905000-4909000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:4905000-4909400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr6:4905200-4909000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:4905400-4912800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:4905600-4910400	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:4905800-4931200	Weak transcription	HepG2	liver
30	chr6:4906400-4908800	Enhancers	Fetal Thymus	thymus
31	chr6:4906400-4911000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:4906400-4911000	Enhancers	Stomach Mucosa	stomach
33	chr6:4906600-4908800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:4906600-4908800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:4906600-4910800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:4906800-4912000	Weak transcription	Fetal Brain Female	brain
37	chr6:4906800-4913400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:4906800-4914000	Weak transcription	Fetal Kidney	kidney
39	chr6:4907000-4909000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:4907000-4909000	Weak transcription	A549	lung
41	chr6:4907000-4912800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:4907200-4908800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:4907200-4908800	Enhancers	Thymus	Thymus
44	chr6:4907200-4909000	Weak transcription	HSMMtube	muscle
45	chr6:4907200-4909200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr6:4907200-4911600	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr6:4907400-4908800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr6:4907400-4908800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:4907400-4908800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:4907400-4908800	Enhancers	Primary hematopoietic stem cells	blood

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