Variant report

Variant	rs73124720
Chromosome Location	chr7:50798055-50798056
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:50797740-50798455	SK-N-SH_RA	brain:	n/a	chr7:50798412-50798426
2	EP300	chr7:50797743-50798371	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50795485..50798618-chr7:50800001..50802652,3	MCF-7	breast:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10486758	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12530497	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152083	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17449259	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17450294	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17546879	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17547506	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17547664	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17547986	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17548938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237482	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286155	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs41430449	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4245558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947462	0.89[AMR][1000 genomes]
rs4947463	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4947816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4947834	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4947854	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4947864	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4947887	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56200772	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57219566	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58092690	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58198279	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60210111	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60767324	0.84[EUR][1000 genomes]
rs61250449	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61618565	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113855	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73116822	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116823	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116829	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116888	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116890	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116898	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73118808	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73118814	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73118816	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73118830	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73118836	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73118841	0.87[ASN][1000 genomes]
rs73122773	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73122790	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73122793	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73122798	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73124705	0.87[ASN][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757771	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs757998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:50780800-50801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:50781200-50798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:50783800-50798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:50783800-50798400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:50784000-50799400	Weak transcription	Hela-S3	cervix
9	chr7:50787000-50798600	Weak transcription	Brain Germinal Matrix	brain
10	chr7:50787000-50807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:50787800-50798200	Weak transcription	HepG2	liver
12	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:50789400-50798600	Weak transcription	A549	lung
14	chr7:50789400-50811600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:50789600-50798200	Weak transcription	Brain Anterior Caudate	brain
16	chr7:50789600-50798400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:50789600-50807400	Weak transcription	Esophagus	oesophagus
18	chr7:50789800-50798600	Weak transcription	Brain Angular Gyrus	brain
19	chr7:50790000-50801200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:50790200-50801200	Weak transcription	Fetal Intestine Large	intestine
21	chr7:50790400-50798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:50790600-50799200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:50791800-50798400	Weak transcription	Fetal Brain Male	brain
24	chr7:50793000-50798200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:50793000-50798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:50793000-50798200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:50793000-50798200	Weak transcription	K562	blood
28	chr7:50793000-50799400	Enhancers	Liver	Liver
29	chr7:50793000-50799600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:50793000-50801400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:50793000-50801800	Weak transcription	Fetal Intestine Small	intestine
32	chr7:50793200-50807200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:50793800-50798600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:50793800-50807200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:50794000-50801200	Weak transcription	Gastric	stomach
36	chr7:50794600-50799200	Enhancers	Adipose Nuclei	Adipose
37	chr7:50794800-50799400	Enhancers	NH-A	brain
38	chr7:50794800-50802200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:50794800-50802200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr7:50794800-50803000	Weak transcription	Primary T cells from cord blood	blood
41	chr7:50795000-50799200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:50795000-50799600	Enhancers	Osteobl	bone
43	chr7:50795200-50798200	Weak transcription	Stomach Mucosa	stomach
44	chr7:50795200-50798600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:50795200-50807400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:50795400-50799000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:50795800-50798800	Enhancers	Left Ventricle	heart
48	chr7:50796200-50798400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:50796200-50798600	Enhancers	Ovary	ovary
50	chr7:50796200-50799000	Enhancers	Right Atrium	heart

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