Variant report

Variant	rs72503823
Chromosome Location	chr6:167032656-167032657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167027450..167030161-chr6:167032275..167034525,2	MCF-7	breast:
2	chr6:167028450..167030849-chr6:167031302..167033259,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10946178	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12196315	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12199983	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12203904	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778367	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3778369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778372	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799566	0.82[EUR][1000 genomes]
rs3799570	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3799571	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58727224	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60145177	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6456097	0.85[EUR][1000 genomes]
rs6456098	0.85[EUR][1000 genomes]
rs6916042	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6929319	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs873070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs873071	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs874153	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs916389	0.85[EUR][1000 genomes]
rs9356498	0.84[EUR][1000 genomes]
rs9366034	0.84[EUR][1000 genomes]
rs9459701	0.82[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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167012400-167034400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:167016000-167034400	Weak transcription	Aorta	Aorta
3	chr6:167016600-167032800	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:167023600-167033200	Weak transcription	Primary B cells from cord blood	blood
5	chr6:167024000-167033600	Weak transcription	Fetal Brain Male	brain
6	chr6:167024200-167032800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:167025400-167034800	Enhancers	Ovary	ovary
8	chr6:167025600-167034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:167026400-167033000	Weak transcription	Fetal Lung	lung
10	chr6:167028200-167035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:167028600-167034600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:167028800-167033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:167028800-167033400	Weak transcription	Stomach Mucosa	stomach
14	chr6:167029200-167032800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:167029200-167032800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:167029200-167033000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:167029200-167033400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:167029200-167034400	Weak transcription	Colonic Mucosa	Colon
19	chr6:167029200-167039000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:167029400-167036800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:167029600-167034200	Weak transcription	Brain Substantia Nigra	brain
22	chr6:167029800-167032800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:167029800-167033000	Genic enhancers	Lung	lung
24	chr6:167030200-167033800	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:167030400-167033400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:167030400-167033600	Weak transcription	Brain Anterior Caudate	brain
27	chr6:167030600-167033000	Weak transcription	Psoas Muscle	Psoas
28	chr6:167030600-167033800	Weak transcription	Liver	Liver
29	chr6:167031000-167032800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:167031200-167032800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:167031200-167033200	Weak transcription	HUVEC	blood vessel
32	chr6:167031400-167033000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:167031400-167033000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:167031400-167034400	Weak transcription	Fetal Kidney	kidney
35	chr6:167031600-167032800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:167031600-167032800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:167031600-167037200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr6:167031800-167032800	Genic enhancers	Stomach Smooth Muscle	stomach
39	chr6:167031800-167033000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:167031800-167033000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:167031800-167033200	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr6:167032000-167032800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:167032000-167032800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:167032200-167032800	Genic enhancers	Fetal Stomach	stomach
45	chr6:167032200-167034600	Enhancers	HSMMtube	muscle
46	chr6:167032200-167034800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:167032200-167034800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:167032400-167032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:167032400-167032800	Genic enhancers	HMEC	breast
50	chr6:167032400-167032800	Weak transcription	NHEK	skin

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