Variant report

Variant	rs1144717
Chromosome Location	chr12:32263887-32263888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32254333..32256394-chr12:32262873..32265545,2	K562	blood:
2	chr12:32261687..32264441-chr12:32470359..32472104,2	MCF-7	breast:
3	chr12:32258502..32261631-chr12:32261998..32266748,8	K562	blood:

Variant related genes	Relation type
ENSG00000257530	Chromatin interaction
ENSG00000151746	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1151016	0.88[ASN][1000 genomes]
rs1260708	0.89[ASN][1000 genomes]
rs1618256	0.83[ASN][1000 genomes]
rs1631036	0.81[ASN][1000 genomes]
rs1673857	0.83[ASN][1000 genomes]
rs1673858	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats 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	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32260400-32267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:32261000-32268600	Weak transcription	Spleen	Spleen
3	chr12:32261200-32264600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:32261200-32268400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:32261200-32268400	Weak transcription	Left Ventricle	heart
6	chr12:32261200-32271200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:32261200-32277600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:32261200-32277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:32261400-32264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:32261400-32268600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:32261400-32273800	Weak transcription	Fetal Thymus	thymus
12	chr12:32262000-32268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:32262000-32268600	Weak transcription	Adipose Nuclei	Adipose
14	chr12:32262200-32264200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:32262200-32265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:32262200-32268000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:32262200-32268400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:32262200-32268400	Weak transcription	Aorta	Aorta
19	chr12:32262200-32268400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:32262200-32268400	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:32262200-32268400	Weak transcription	Fetal Heart	heart
22	chr12:32262200-32268400	Weak transcription	Fetal Stomach	stomach
23	chr12:32262200-32268400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:32262200-32268400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:32262200-32271600	Weak transcription	Fetal Intestine Small	intestine
26	chr12:32262200-32273200	Weak transcription	Small Intestine	intestine
27	chr12:32262200-32275600	Weak transcription	Thymus	Thymus
28	chr12:32262400-32264000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:32262400-32264000	Weak transcription	HSMM	muscle
30	chr12:32262400-32264200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:32262400-32264200	Enhancers	Hela-S3	cervix
32	chr12:32262400-32264400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:32262400-32264400	Enhancers	NHDF-Ad	bronchial
34	chr12:32262400-32264600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:32262400-32264600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:32262400-32265000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:32262400-32267800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:32262400-32267800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:32262400-32268400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:32262400-32268400	Weak transcription	Right Atrium	heart
41	chr12:32262400-32268600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:32262400-32287400	Weak transcription	Primary T cells from cord blood	blood
43	chr12:32262400-32290200	Weak transcription	Primary B cells from cord blood	blood
44	chr12:32263000-32264200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:32263000-32264400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:32263200-32264200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:32263200-32264200	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:32263200-32264200	Genic enhancers	K562	blood
49	chr12:32263200-32264400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:32263200-32267800	Weak transcription	HUVEC	blood vessel

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