Variant report

Variant	rs73310907
Chromosome Location	chr12:50220750-50220751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr12:50218552-50220875	IMR90	lung:	n/a	chr12:50219337-50219352 chr12:50219050-50219059
2	POLR2A	chr12:50220552-50223242	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr12:50220750-50223349	IMR90	lung:	n/a	n/a
4	HCFC1	chr12:50220291-50223515	Hela-S3	cervix:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50220424..50223939-chr12:50233012..50238065,9	K562	blood:
2	chr12:50209248..50211302-chr12:50219321..50221793,2	K562	blood:
3	chr12:50200144..50201863-chr12:50219253..50221982,2	MCF-7	breast:
4	chr12:50216965..50224421-chr12:50234869..50238255,17	MCF-7	breast:
5	chr12:50197055..50201000-chr12:50217056..50221303,4	K562	blood:
6	chr12:50135126..50137346-chr12:50220595..50223350,3	MCF-7	breast:
7	chr12:50198169..50199733-chr12:50218662..50220771,2	K562	blood:
8	chr12:50134227..50139526-chr12:50218668..50224471,9	K562	blood:
9	chr12:50190700..50193578-chr12:50220244..50222518,3	MCF-7	breast:
10	chr12:50133925..50140140-chr12:50217980..50223924,8	K562	blood:
11	chr12:50217971..50224800-chr12:50231213..50239207,27	MCF-7	breast:

No data

Variant related genes	Relation type
BCDIN3D-AS1	TF binding region
ENSG00000167566	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10875977	1.00[ASN][1000 genomes]
rs11169164	1.00[ASN][1000 genomes]
rs11169165	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169171	1.00[ASN][1000 genomes]
rs12315844	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321190	1.00[ASN][1000 genomes]
rs17123990	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56751503	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57832845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61691368	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137037	1.00[ASN][1000 genomes]
rs7137262	1.00[ASN][1000 genomes]
rs7313739	1.00[ASN][1000 genomes]
rs73309047	0.95[EUR][1000 genomes]
rs73309054	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309064	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309090	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968164	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50208800-50221200	Weak transcription	Small Intestine	intestine
2	chr12:50214400-50220800	Enhancers	Placenta	Placenta
3	chr12:50215200-50221000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:50215800-50221200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:50216000-50221000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:50216000-50221000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:50216200-50220800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:50217200-50221000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:50217600-50220800	Enhancers	Brain Anterior Caudate	brain
10	chr12:50217800-50220800	Enhancers	Fetal Thymus	thymus
11	chr12:50217800-50221200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:50217800-50221600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:50218000-50220800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:50218000-50220800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:50218200-50221000	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:50218200-50221000	Enhancers	Lung	lung
17	chr12:50218200-50221200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr12:50218400-50220800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr12:50218400-50221400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:50218600-50220800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:50218600-50221200	Flanking Active TSS	NHLF	lung
22	chr12:50218800-50220800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:50218800-50220800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr12:50218800-50221000	Flanking Active TSS	HSMM	muscle
25	chr12:50219000-50220800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:50219000-50221000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:50219000-50221200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr12:50219000-50221600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:50219000-50221600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:50219000-50221600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr12:50219000-50221600	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr12:50219200-50220800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:50219200-50221000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:50219200-50221000	Enhancers	Esophagus	oesophagus
35	chr12:50219200-50221000	Enhancers	Pancreas	Pancrea
36	chr12:50219400-50220800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:50219400-50220800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:50219400-50221000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:50219400-50221000	Enhancers	Gastric	stomach
40	chr12:50219400-50221200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr12:50219400-50221400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:50219600-50220800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:50219600-50220800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:50219600-50220800	Enhancers	Liver	Liver
45	chr12:50219600-50220800	Enhancers	Fetal Stomach	stomach
46	chr12:50219600-50220800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:50219600-50221000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:50219800-50220800	Enhancers	Primary T cells from cord blood	blood
49	chr12:50219800-50221200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:50220000-50220800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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