Variant report

Variant	rs73122790
Chromosome Location	chr7:50781539-50781540
allele	A/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	ZNF263	chr7:50780799-50781559	HEK293-T-REx	kidney:	n/a	chr7:50780957-50780978
2	POLR2A	chr7:50780772-50781623	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:50781516..50783338-chr7:50785082..50786881,2	K562	blood:
2	chr7:50772725..50774858-chr7:50781132..50783055,2	K562	blood:
3	chr7:50780419..50783049-chr7:50792593..50795641,3	K562	blood:
4	chr7:50781098..50783025-chr7:50791661..50794093,2	K562	blood:
5	chr7:50775453..50778536-chr7:50778993..50781858,3	MCF-7	breast:

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

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10486758	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530497	1.00[AFR][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17152083	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17449259	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17450294	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546879	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547506	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547664	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547986	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17548938	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237482	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286155	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs41430449	1.00[AFR][1000 genomes]
rs4245558	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947463	1.00[AFR][1000 genomes]
rs4947816	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4947834	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4947854	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4947864	1.00[AFR][1000 genomes]
rs4947887	1.00[AFR][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56200772	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57219566	1.00[AFR][1000 genomes]
rs58092690	1.00[AFR][1000 genomes]
rs58198279	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60210111	1.00[AFR][1000 genomes]
rs60767324	0.84[EUR][1000 genomes]
rs61250449	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61618565	1.00[AFR][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73113855	1.00[AFR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73116822	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116823	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116829	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116888	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116890	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116898	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118808	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118814	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118816	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118830	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118836	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118841	0.93[ASN][1000 genomes]
rs73122773	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122793	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122798	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124705	0.93[ASN][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124720	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757771	0.90[ASN][1000 genomes]
rs757998	1.00[EUR][1000 genomes];1.00[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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:50766400-50783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:50766400-50785800	Weak transcription	Small Intestine	intestine
5	chr7:50772000-50791600	Weak transcription	K562	blood
6	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:50773600-50788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:50773800-50786600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:50774600-50782400	Weak transcription	HMEC	breast
11	chr7:50774800-50789200	Weak transcription	NHLF	lung
12	chr7:50776400-50786000	Weak transcription	HUVEC	blood vessel
13	chr7:50777000-50781800	Enhancers	Psoas Muscle	Psoas
14	chr7:50777600-50792600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:50778000-50781600	Enhancers	Colon Smooth Muscle	Colon
16	chr7:50778400-50781800	Enhancers	Liver	Liver
17	chr7:50778400-50784000	Enhancers	Left Ventricle	heart
18	chr7:50778400-50789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:50778600-50781800	Enhancers	Fetal Heart	heart
20	chr7:50778600-50785600	Weak transcription	Fetal Intestine Small	intestine
21	chr7:50778800-50782000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:50778800-50782400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:50778800-50783000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:50778800-50786800	Enhancers	Right Atrium	heart
25	chr7:50779200-50781800	Enhancers	Spleen	Spleen
26	chr7:50779200-50782600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:50779400-50781800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:50779400-50781800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:50779400-50781800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr7:50779400-50782600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:50779400-50783200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr7:50779400-50786000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:50779600-50781600	Enhancers	Brain Anterior Caudate	brain
34	chr7:50780000-50781600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:50780000-50781800	Enhancers	Right Ventricle	heart
36	chr7:50780200-50781800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:50780200-50782400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:50780400-50782200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:50780400-50782400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:50780400-50786200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:50780400-50788400	Enhancers	Pancreas	Pancrea
42	chr7:50780600-50782400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:50780600-50784400	Weak transcription	Brain Substantia Nigra	brain
44	chr7:50780600-50786400	Weak transcription	Osteobl	bone
45	chr7:50780600-50786600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:50780600-50795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:50780800-50781800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:50780800-50782400	Weak transcription	NH-A	brain
50	chr7:50780800-50782800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links