Variant report

Variant	rs1707731
Chromosome Location	chr12:123920075-123920076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123918432..123921016-chr12:123934034..123936294,2	K562	blood:
2	chr12:123866820..123869752-chr12:123919792..123923261,3	K562	blood:
3	chr12:123918384..123920794-chr12:123967775..123969543,2	K562	blood:
4	chr12:123919998..123924322-chr12:123941781..123944675,4	K562	blood:
5	chr12:123919731..123922838-chr12:123939726..123943639,4	MCF-7	breast:
6	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
7	chr12:123919342..123922431-chr12:123924734..123927863,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184209	Chromatin interaction
ENSG00000270445	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000183955	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11507736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11507738	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1706475	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1707730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961025	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs871163	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1707731	MGC7036	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123891200-123920400	Weak transcription	Psoas Muscle	Psoas
2	chr12:123892200-123920200	Weak transcription	NH-A	brain
3	chr12:123894000-123920600	Weak transcription	HSMMtube	muscle
4	chr12:123895200-123920200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:123895200-123920200	Weak transcription	A549	lung
6	chr12:123907600-123920200	Weak transcription	Placenta	Placenta
7	chr12:123907600-123920200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:123908600-123920200	Weak transcription	Fetal Intestine Small	intestine
9	chr12:123912200-123920200	Weak transcription	Esophagus	oesophagus
10	chr12:123912200-123920200	Weak transcription	Stomach Mucosa	stomach
11	chr12:123912200-123920400	Weak transcription	Fetal Intestine Large	intestine
12	chr12:123916200-123920200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:123916800-123920800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:123916800-123921000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr12:123916800-123921000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:123917200-123920200	Active TSS	Duodenum Mucosa	Duodenum
17	chr12:123917200-123920400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:123917200-123920800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr12:123917200-123921800	Active TSS	Aorta	Aorta
20	chr12:123917600-123920200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:123917600-123920400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr12:123917800-123920200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:123918600-123921400	Active TSS	GM12878-XiMat	blood
24	chr12:123918800-123921600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:123919200-123921000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr12:123919400-123920200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:123919400-123920400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:123919400-123920400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:123919400-123920600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:123919400-123920600	Active TSS	Colonic Mucosa	Colon
31	chr12:123919400-123920800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr12:123919600-123920200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:123919600-123920200	Enhancers	K562	blood
34	chr12:123919600-123920600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:123919600-123920600	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr12:123919800-123920200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:123919800-123920200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:123919800-123920200	Active TSS	Brain Hippocampus Middle	brain
39	chr12:123919800-123920400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr12:123919800-123920400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:123919800-123920400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr12:123919800-123920400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:123919800-123920400	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr12:123919800-123920400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr12:123919800-123920600	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr12:123919800-123920600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr12:123919800-123920600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr12:123919800-123920600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:123919800-123920600	Flanking Active TSS	HUVEC	blood vessel
50	chr12:123919800-123920800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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