Variant report

Variant	rs73413720
Chromosome Location	chr12:122215259-122215260
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122213296..122215371-chr12:122231546..122233202,23	MCF-7	breast:
2	chr12:122214229..122218603-chr12:122325636..122328202,4	MCF-7	breast:
3	chr12:122214898..122215746-chr12:122231761..122232743,2	K562	blood:
4	chr12:122148985..122154094-chr12:122210649..122217008,11	MCF-7	breast:
5	chr12:122213395..122216201-chr12:122325531..122328146,2	MCF-7	breast:
6	chr12:122214138..122216054-chr12:122231373..122233377,2	K562	blood:
7	chr12:122214559..122216075-chr12:122238255..122240656,2	K562	blood:
8	chr12:122214406..122216955-chr12:122229851..122233377,3	K562	blood:
9	chr12:122212415..122216174-chr12:122326415..122328726,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETD1B-4	chr12:122214728-122215803	NONHSAT031441

No data

Variant related genes	Relation type
ENSG00000256950	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1052202	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1064169	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11043192	0.88[EUR][1000 genomes]
rs11043193	0.95[EUR][1000 genomes]
rs11043194	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11043195	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11043196	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3741590	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55695154	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56012262	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73413708	0.86[EUR][1000 genomes]
rs73413711	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73413713	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73413716	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73413717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	esv1808272	chr12:122208492-122216042	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
2	chr12:122190400-122217000	Weak transcription	Esophagus	oesophagus
3	chr12:122204600-122215400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:122206000-122216800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
7	chr12:122206600-122216800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:122206600-122216800	Weak transcription	Fetal Brain Female	brain
9	chr12:122206600-122219400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:122206600-122219400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:122206600-122219400	Weak transcription	Osteobl	bone
12	chr12:122206600-122219600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:122206600-122220000	Weak transcription	Brain Anterior Caudate	brain
14	chr12:122206600-122226400	Weak transcription	Aorta	Aorta
15	chr12:122206800-122216400	Weak transcription	Brain Germinal Matrix	brain
16	chr12:122208400-122219600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:122211200-122217000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:122211400-122218200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:122211400-122219400	Weak transcription	K562	blood
20	chr12:122211600-122219200	Strong transcription	Fetal Stomach	stomach
21	chr12:122211600-122219400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:122211600-122225000	Weak transcription	Psoas Muscle	Psoas
23	chr12:122211600-122231200	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:122211800-122215400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:122211800-122218600	Weak transcription	NHEK	skin
26	chr12:122211800-122219000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:122211800-122219000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:122211800-122219000	Weak transcription	NH-A	brain
29	chr12:122211800-122219200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:122211800-122219400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:122211800-122219400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:122211800-122219400	Weak transcription	HSMM	muscle
33	chr12:122211800-122219800	Weak transcription	Fetal Lung	lung
34	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
35	chr12:122212800-122217800	Genic enhancers	A549	lung
36	chr12:122212800-122219400	Weak transcription	HSMMtube	muscle
37	chr12:122213400-122221200	Genic enhancers	Fetal Thymus	thymus
38	chr12:122213600-122215400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:122213600-122215600	Enhancers	Primary B cells from peripheral blood	blood
40	chr12:122213600-122216600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:122214000-122216200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:122214000-122216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:122214000-122216400	Weak transcription	NHLF	lung
44	chr12:122214000-122217000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:122214000-122218400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:122214200-122215400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr12:122214200-122215400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:122214200-122215400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:122214200-122215800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:122214200-122219800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links