Variant report

Variant	rs7967776
Chromosome Location	chr12:39296664-39296665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39295565..39299427-chr12:39307532..39310185,3	K562	blood:
2	chr12:39290114..39292966-chr12:39295688..39297919,2	K562	blood:
3	chr12:39294074..39295589-chr12:39295957..39298877,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10506129	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs10876149	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876163	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169769	0.91[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169801	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169879	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169908	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11609849	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11613205	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11615668	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12812262	0.88[CEU][hapmap]
rs12827647	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17464772	0.92[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17465893	0.96[CEU][hapmap]
rs17467376	0.81[EUR][1000 genomes]
rs17523988	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs2056159	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2388060	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34204495	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36035670	0.81[EUR][1000 genomes]
rs4332556	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768548	0.84[CEU][hapmap]
rs7960621	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv899009	chr12:39284077-39441096	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39271800-39297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:39286600-39297400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:39287400-39298600	Weak transcription	Aorta	Aorta
4	chr12:39289600-39297000	Weak transcription	HUVEC	blood vessel
5	chr12:39290200-39297600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:39290600-39297000	Weak transcription	Right Atrium	heart
7	chr12:39290800-39297600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:39290800-39298600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:39292200-39297200	Weak transcription	Placenta	Placenta
10	chr12:39292400-39297000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:39292400-39297200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:39292400-39297400	Weak transcription	HMEC	breast
13	chr12:39292400-39297600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:39292400-39297600	Weak transcription	NHDF-Ad	bronchial
15	chr12:39292400-39298800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:39292600-39296800	Weak transcription	NHEK	skin
17	chr12:39292600-39297000	Weak transcription	A549	lung
18	chr12:39292800-39297000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:39292800-39297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:39292800-39297600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:39292800-39297600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:39292800-39298000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:39293000-39297400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:39293000-39297600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:39293000-39298400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:39293200-39297000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:39293200-39297200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:39293200-39297400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:39293400-39297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:39293600-39297000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:39294600-39297000	Active TSS	GM12878-XiMat	blood
32	chr12:39295000-39298000	Weak transcription	Lung	lung
33	chr12:39295400-39297200	Enhancers	Hela-S3	cervix
34	chr12:39295800-39297600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:39296200-39297200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:39296200-39297600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:39296200-39300200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:39296400-39297000	Enhancers	Primary hematopoietic stem cells	blood
39	chr12:39296400-39297200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:39296400-39297200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:39296400-39297400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:39296400-39297400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:39296400-39297600	Enhancers	Brain Anterior Caudate	brain
44	chr12:39296600-39297000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:39296600-39297200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:39296600-39297400	Enhancers	Liver	Liver

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