Variant report

Variant	rs73270360
Chromosome Location	chr12:11325452-11325453
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:11323254-11325495	H1-neurons	neurons:	n/a	chr12:11324075-11324088

No.	Distal block	Cell Line	Cell type
1	chr12:11322782..11326787-chr12:11332516..11335699,5	K562	blood:
2	chr12:11321748..11327565-chr12:11327784..11333912,14	MCF-7	breast:
3	chr12:10760446..10762203-chr12:11323888..11325802,2	K562	blood:

Variant related genes	Relation type
PRR4	TF binding region
ENSG00000256712	TF binding region
TAS2R14	TF binding region
ENSG00000256629	Chromatin interaction
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73266555	0.82[AFR][1000 genomes]
rs73266577	0.91[AFR][1000 genomes]
rs73266589	1.00[AFR][1000 genomes]
rs73266595	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription 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	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv898783	chr12:11185236-11338781	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv898784	chr12:11188140-11341521	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1050050	chr12:11192046-11436359	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1053783	chr12:11203509-11495584	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv1807067	chr12:11214215-11568895	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv1042134	chr12:11220712-11328131	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11322200-11326000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:11322400-11325800	Active TSS	K562	blood
3	chr12:11322600-11325600	Active TSS	HSMMtube	muscle
4	chr12:11322800-11325600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:11322800-11325600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:11322800-11325800	Active TSS	GM12878-XiMat	blood
7	chr12:11322800-11326200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:11323000-11325600	Active TSS	NHLF	lung
9	chr12:11323200-11325600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr12:11323200-11325600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:11323400-11325600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:11323400-11325600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:11323400-11325600	Active TSS	Brain Germinal Matrix	brain
14	chr12:11323400-11325600	Active TSS	Fetal Intestine Small	intestine
15	chr12:11323400-11325800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:11323400-11325800	Active TSS	HMEC	breast
17	chr12:11323400-11326000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:11323400-11326000	Active TSS	Muscle Satellite Cultured Cells	--
19	chr12:11323400-11326000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:11323600-11325600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:11323600-11325600	Active TSS	Fetal Brain Female	brain
22	chr12:11323600-11326200	Active TSS	Ovary	ovary
23	chr12:11324000-11325600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:11324200-11326000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:11324200-11326200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:11324600-11325600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr12:11324600-11325600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:11324600-11325600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:11324600-11325600	Flanking Active TSS	Liver	Liver
30	chr12:11324600-11326000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:11324800-11325600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:11324800-11325600	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr12:11324800-11325600	Weak transcription	Small Intestine	intestine
34	chr12:11324800-11325600	Flanking Active TSS	Dnd41	blood
35	chr12:11324800-11325600	Flanking Active TSS	HUVEC	blood vessel
36	chr12:11324800-11326600	Weak transcription	Esophagus	oesophagus
37	chr12:11325000-11325600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:11325000-11325600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:11325000-11325600	Enhancers	Primary B cells from peripheral blood	blood
40	chr12:11325000-11325600	Flanking Active TSS	Fetal Brain Male	brain
41	chr12:11325000-11325800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:11325000-11326000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:11325000-11326200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:11325000-11335600	Weak transcription	Left Ventricle	heart
45	chr12:11325200-11325600	Enhancers	Primary B cells from cord blood	blood
46	chr12:11325200-11325600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:11325200-11325600	Active TSS	Brain Angular Gyrus	brain
48	chr12:11325200-11325600	Weak transcription	Fetal Thymus	thymus
49	chr12:11325200-11325600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr12:11325200-11325800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links