Variant report

Variant	rs7966917
Chromosome Location	chr12:62939557-62939558
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62937527..62940044-chr12:62996050..62998265,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199179	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1056340	0.83[ASW][hapmap]
rs10784309	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10784310	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10784311	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877884	0.87[ASN][1000 genomes]
rs11174539	0.81[ASN][1000 genomes]
rs2884598	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581454	0.83[MEX][hapmap]
rs7301113	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7311194	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311623	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7960329	0.89[ASN][1000 genomes]
rs7975337	0.89[ASN][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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
2	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
3	chr12:62897600-62944000	Weak transcription	Esophagus	oesophagus
4	chr12:62903600-62949800	Weak transcription	NHEK	skin
5	chr12:62906400-62943800	Weak transcription	Aorta	Aorta
6	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:62907400-62940200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:62911400-62944000	Weak transcription	Spleen	Spleen
9	chr12:62914200-62941200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:62915800-62971600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:62917000-62940600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
13	chr12:62917400-62960000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:62919800-62970000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:62920000-62950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:62924400-62945600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr12:62924400-62949800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:62924400-62969800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:62924800-62967600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:62925400-62949800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:62926000-62945000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:62926000-62951400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr12:62926200-62949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:62926200-62951400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:62926200-62951600	Strong transcription	Fetal Thymus	thymus
26	chr12:62926200-62951800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:62926200-62955800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:62927400-62941600	Weak transcription	Right Ventricle	heart
29	chr12:62927400-62967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:62927600-62943400	Weak transcription	HSMMtube	muscle
31	chr12:62928000-62940400	Weak transcription	Brain Angular Gyrus	brain
32	chr12:62928000-62940600	Weak transcription	HMEC	breast
33	chr12:62928000-62941000	Weak transcription	Brain Germinal Matrix	brain
34	chr12:62928000-62942000	Weak transcription	Brain Substantia Nigra	brain
35	chr12:62928000-62943400	Weak transcription	NHLF	lung
36	chr12:62928000-62950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:62928000-62963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:62928200-62940200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:62928200-62950000	Weak transcription	Fetal Brain Male	brain
40	chr12:62928800-62995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:62929400-62940200	Weak transcription	Colonic Mucosa	Colon
42	chr12:62929600-62940600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:62929800-62940400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:62931800-62951400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:62932000-62947600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:62932000-62957200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:62932400-62940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:62932400-62940600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:62932400-62941000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:62932400-62941200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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