Variant report

Variant	rs73313480
Chromosome Location	chr12:64241943-64241944
allele	A/G
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:0)
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	chr12:64239389..64242178-chr12:64352043..64353568,2	MCF-7	breast:
2	chr12:64237199..64239425-chr12:64240324..64242683,2	K562	blood:
3	chr12:64240054..64242405-chr12:64482423..64484975,2	MCF-7	breast:
4	chr12:64237925..64239667-chr12:64240036..64242683,2	K562	blood:
5	chr12:64241662..64243647-chr12:64288984..64291005,2	MCF-7	breast:
6	chr12:64240035..64242114-chr12:64615625..64617239,2	MCF-7	breast:
7	chr12:64240146..64242509-chr12:64254956..64256783,2	MCF-7	breast:
8	chr12:64240094..64242329-chr12:64649536..64651426,2	MCF-7	breast:
9	chr12:64240320..64243216-chr12:64291651..64293921,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243024	Chromatin interaction
ENSG00000174206	Chromatin interaction
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11175203	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175204	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829836	1.00[ASN][1000 genomes]
rs2251126	1.00[ASN][1000 genomes]
rs2954910	1.00[ASN][1000 genomes]
rs55965024	1.00[ASN][1000 genomes]
rs56206744	1.00[ASN][1000 genomes]
rs61933087	1.00[ASN][1000 genomes]
rs61933088	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933089	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933090	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933092	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61935958	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937060	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937062	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937063	1.00[ASN][1000 genomes]
rs61937064	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937065	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937066	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306077	1.00[ASN][1000 genomes]
rs73113978	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126646	0.81[EUR][1000 genomes];1.00[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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv1810729	chr12:64234926-64268005	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
8	esv1797043	chr12:64237504-64256568	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
9	esv1833454	chr12:64237504-64264837	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64239400-64242000	Weak transcription	Placenta	Placenta
2	chr12:64240400-64243600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:64240400-64243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:64240400-64244400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:64240400-64247400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:64240600-64243200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:64240600-64244600	Enhancers	Fetal Intestine Large	intestine
8	chr12:64240600-64245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:64240600-64246000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:64240800-64242200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:64240800-64242200	Weak transcription	Fetal Lung	lung
12	chr12:64240800-64242800	Weak transcription	Fetal Heart	heart
13	chr12:64240800-64243000	Weak transcription	Brain Angular Gyrus	brain
14	chr12:64240800-64243200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:64240800-64243800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:64240800-64244200	Weak transcription	Right Atrium	heart
17	chr12:64240800-64245000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:64240800-64256000	Weak transcription	Small Intestine	intestine
19	chr12:64241000-64242000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:64241000-64242000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:64241000-64242000	Weak transcription	Brain Anterior Caudate	brain
22	chr12:64241000-64242000	Weak transcription	Right Ventricle	heart
23	chr12:64241000-64242000	Weak transcription	NHLF	lung
24	chr12:64241000-64242200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:64241000-64242200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:64241000-64242200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:64241000-64242400	Weak transcription	Adipose Nuclei	Adipose
28	chr12:64241000-64242400	Weak transcription	Brain Substantia Nigra	brain
29	chr12:64241000-64242800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:64241000-64242800	Enhancers	Fetal Brain Male	brain
31	chr12:64241000-64243000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:64241000-64243000	Weak transcription	Fetal Kidney	kidney
33	chr12:64241000-64243200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:64241000-64243200	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:64241000-64243400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:64241000-64243600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:64241000-64243800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:64241000-64243800	Weak transcription	Stomach Mucosa	stomach
39	chr12:64241000-64245800	Weak transcription	Pancreas	Pancrea
40	chr12:64241000-64247000	Weak transcription	HepG2	liver
41	chr12:64241000-64247400	Weak transcription	Ovary	ovary
42	chr12:64241000-64251800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:64241000-64255600	Weak transcription	Left Ventricle	heart
44	chr12:64241000-64256000	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:64241000-64256000	Weak transcription	HSMM	muscle
46	chr12:64241000-64257200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:64241000-64261200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:64241000-64268800	Weak transcription	Lung	lung
49	chr12:64241000-64278800	Weak transcription	Fetal Stomach	stomach
50	chr12:64241200-64242000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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