Variant report

Variant	rs61736010
Chromosome Location	chr12:122247853-122247854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122247207..122249195-chr12:122326533..122328420,2	K562	blood:
2	chr12:122063951..122065995-chr12:122247788..122250462,2	K562	blood:
3	chr12:122148543..122152154-chr12:122247522..122251412,4	MCF-7	breast:
4	chr12:122219428..122221615-chr12:122247331..122249175,2	K562	blood:
5	chr12:122247695..122252163-chr12:122325172..122328033,7	K562	blood:
6	chr12:120729818..120731411-chr12:122247604..122250047,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256950	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000188735	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17522849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36023382	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3741594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809143	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58801491	1.00[ASN][1000 genomes]
rs59912940	0.93[ASN][1000 genomes]
rs61743641	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
5	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122241600-122248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:122243800-122251600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:122244400-122249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122244800-122249200	Weak transcription	Psoas Muscle	Psoas
5	chr12:122245000-122248800	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr12:122245000-122248800	Weak transcription	Fetal Kidney	kidney
7	chr12:122245200-122248000	Weak transcription	Small Intestine	intestine
8	chr12:122245200-122248200	Genic enhancers	Dnd41	blood
9	chr12:122245200-122248400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:122245200-122248400	Weak transcription	Stomach Mucosa	stomach
11	chr12:122245200-122248400	Strong transcription	A549	lung
12	chr12:122245200-122248600	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:122245200-122248600	Weak transcription	NHDF-Ad	bronchial
14	chr12:122245200-122249000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:122245400-122248000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:122245400-122248200	Strong transcription	Right Ventricle	heart
17	chr12:122245400-122248400	Strong transcription	Left Ventricle	heart
18	chr12:122245400-122248600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:122245400-122248600	Strong transcription	Fetal Lung	lung
20	chr12:122245400-122248800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:122245400-122248800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:122245400-122249600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:122245600-122248000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:122245600-122248000	Weak transcription	Fetal Heart	heart
25	chr12:122245600-122248200	Strong transcription	Esophagus	oesophagus
26	chr12:122245600-122248400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:122245600-122248400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:122245600-122248400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:122245600-122248400	Strong transcription	Colonic Mucosa	Colon
30	chr12:122245600-122248400	Strong transcription	Colon Smooth Muscle	Colon
31	chr12:122245600-122248400	Strong transcription	NH-A	brain
32	chr12:122245600-122248600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:122245600-122248600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:122245600-122248600	Strong transcription	NHEK	skin
35	chr12:122245600-122248800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:122245600-122248800	Weak transcription	HepG2	liver
37	chr12:122245600-122248800	Strong transcription	Osteobl	bone
38	chr12:122245600-122249000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:122245800-122248200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:122245800-122248200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:122245800-122248200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:122245800-122248200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:122245800-122248200	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:122245800-122248200	Strong transcription	Fetal Stomach	stomach
45	chr12:122245800-122248200	Weak transcription	Right Atrium	heart
46	chr12:122245800-122248200	Strong transcription	NHLF	lung
47	chr12:122245800-122248400	Strong transcription	Adipose Nuclei	Adipose
48	chr12:122245800-122248600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:122245800-122248600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr12:122245800-122248600	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links