Variant report

Variant	rs73053495
Chromosome Location	chr7:12732462-12732463
allele	G/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12730450..12733246-chr7:12819730..12821436,2	K562	blood:
2	chr7:12726040..12729456-chr7:12730212..12732509,3	MCF-7	breast:
3	chr7:12729761..12734600-chr7:13300705..13305061,6	K562	blood:
4	chr7:12616812..12619464-chr7:12732050..12734419,2	K562	blood:
5	chr7:12730592..12732679-chr7:13123373..13125180,2	K562	blood:
6	chr7:12729128..12735523-chr7:12765929..12775781,12	K562	blood:
7	chr7:12731429..12733326-chr7:12855233..12857864,2	K562	blood:
8	chr7:12730292..12732021-chr7:12732169..12734035,2	MCF-7	breast:
9	chr7:12730191..12732568-chr7:13002089..13004922,3	K562	blood:
10	chr7:12730482..12733310-chr7:13301310..13304116,3	K562	blood:
11	chr7:12730040..12735403-chr7:12757431..12760673,6	K562	blood:
12	chr7:12732435..12735285-chr7:12904992..12907592,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10279548	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10279649	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10280332	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12540556	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35407540	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66871471	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67302850	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944823	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053442	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053448	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053455	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053467	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053502	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12726200-12732800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr7:12728000-12732600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:12728000-12734000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:12728200-12732800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:12729000-12733000	Weak transcription	Left Ventricle	heart
6	chr7:12729000-12734600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:12729400-12732600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:12730200-12732600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:12730200-12739000	Weak transcription	Placenta	Placenta
10	chr7:12730200-12740200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:12730400-12734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:12730400-12735200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:12730400-12735200	Weak transcription	Stomach Mucosa	stomach
14	chr7:12730400-12735400	Weak transcription	Fetal Intestine Small	intestine
15	chr7:12730600-12734400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:12730600-12734600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:12730600-12734800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:12730600-12735400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:12730800-12732600	Weak transcription	HUVEC	blood vessel
20	chr7:12730800-12732800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:12730800-12732800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:12730800-12733000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:12730800-12733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:12730800-12733800	Weak transcription	Hela-S3	cervix
25	chr7:12730800-12734000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:12730800-12734000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:12730800-12734000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:12730800-12735400	Weak transcription	Fetal Intestine Large	intestine
29	chr7:12730800-12735400	Weak transcription	NHEK	skin
30	chr7:12730800-12746600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:12731000-12735400	Weak transcription	HMEC	breast
32	chr7:12731200-12740400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:12731400-12732800	Transcr. at gene 5' and 3'	K562	blood
34	chr7:12731800-12732800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr7:12731800-12733400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:12731800-12733400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:12732000-12735000	Weak transcription	Small Intestine	intestine
38	chr7:12732200-12733000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:12732400-12733400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:12732400-12735600	Weak transcription	A549	lung

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