Variant report

Variant	rs58092690
Chromosome Location	chr7:50863567-50863568
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:50863500-50863650	NHEK	skin:	n/a	n/a
2	CTCF	chr7:50863560-50863710	AG10803	skin:	n/a	n/a
3	CTCF	chr7:50863510-50863711	MCF-7	breast:	n/a	n/a
4	CTCF	chr7:50863560-50863710	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr7:50863528-50863683	ProgFib	skin:	n/a	n/a
6	CTCF	chr7:50863564-50863623	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr7:50863560-50863710	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr7:50863376-50863766	HCT-116	colon:	n/a	n/a
9	CTCF	chr7:50863492-50863734	MCF-7	breast:	n/a	n/a
10	CTCF	chr7:50863540-50863690	HPAF	blood vessel:	n/a	n/a
11	RAD21	chr7:50863499-50863782	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr7:50863367-50863894	A549	lung:	n/a	n/a
13	CTCF	chr7:50863560-50863710	Caco-2	colon:	n/a	n/a
14	CTCF	chr7:50863540-50863690	HRE	kidney:	n/a	n/a
15	CTCF	chr7:50863514-50863705	LNCaP	prostate:	n/a	n/a
16	CTCF	chr7:50863526-50863681	LNCaP	prostate:	n/a	n/a
17	CTCF	chr7:50863560-50863710	HAc	cerebellar:	n/a	n/a
18	CTCF	chr7:50863560-50863710	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr7:50863492-50863731	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:50863560-50863710	HepG2	liver:	n/a	n/a
21	CTCF	chr7:50863413-50863776	T-47D	breast:	n/a	n/a
22	RAD21	chr7:50863351-50863799	A549	lung:	n/a	n/a
23	CTCF	chr7:50863488-50863776	A549	lung:	n/a	n/a
24	CTCF	chr7:50863440-50863590	HEK293	kidney:	n/a	n/a
25	CTCF	chr7:50863279-50864021	A549	lung:	n/a	n/a
26	CTCF	chr7:50863480-50863630	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr7:50863480-50863630	HCT-116	colon:	n/a	n/a
28	CTCF	chr7:50863500-50863650	HCM	heart:	n/a	n/a
29	CTCF	chr7:50863560-50863710	SAEC	small airway:	n/a	n/a
30	RAD21	chr7:50863513-50863752	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr7:50863540-50863690	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr7:50863460-50863610	RPTEC	kidney:	n/a	n/a
33	CTCF	chr7:50863484-50863761	MCF-7	breast:	n/a	n/a
34	RAD21	chr7:50863464-50863736	HepG2	liver:	n/a	n/a
35	CTCF	chr7:50863540-50863690	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr7:50863540-50863690	HBMEC	blood vessel:	n/a	n/a
37	RAD21	chr7:50863501-50863690	HepG2	liver:	n/a	n/a
38	CTCF	chr7:50863520-50863670	HMEC	breast:	n/a	n/a
39	CTCF	chr7:50863520-50863670	AG04449	skin:	n/a	n/a
40	CTCF	chr7:50863500-50863650	HRE	kidney:	n/a	n/a
41	CTCF	chr7:50863520-50863670	NB4	blood:	n/a	n/a
42	CTCF	chr7:50863520-50863670	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr7:50863520-50863670	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr7:50863552-50863672	Medullo	brain:	n/a	n/a
45	CTCF	chr7:50863520-50863670	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr7:50863540-50863690	HCFaa	heart:	n/a	n/a
47	RAD21	chr7:50863360-50863918	MCF-7	breast:	n/a	n/a
48	RAD21	chr7:50863431-50863812	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr7:50863560-50863710	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr7:50863500-50863650	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50863097..50863770-chr7:51135545..51136174,2	MCF-7	breast:
2	chr7:50826033..50828575-chr7:50862954..50865716,2	K562	blood:

No data

Variant related genes	Relation type
GRB10	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10486758	1.00[AFR][1000 genomes]
rs12530497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17449259	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes]
rs17450294	1.00[AFR][1000 genomes]
rs17547506	1.00[AFR][1000 genomes]
rs17547664	1.00[AFR][1000 genomes]
rs17548938	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2286155	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs41430449	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4245558	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4947462	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947463	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947464	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947816	0.91[AMR][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4947834	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4947854	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4947864	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4947887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947902	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57219566	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60210111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61618565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[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];0.83[ASN][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73116823	1.00[AFR][1000 genomes]
rs73116829	1.00[AFR][1000 genomes]
rs73116888	1.00[AFR][1000 genomes]
rs73116890	1.00[AFR][1000 genomes]
rs73118808	1.00[AFR][1000 genomes]
rs73118814	1.00[AFR][1000 genomes]
rs73118816	1.00[AFR][1000 genomes]
rs73118830	1.00[AFR][1000 genomes]
rs73118836	1.00[AFR][1000 genomes]
rs73122773	1.00[AFR][1000 genomes]
rs73122790	1.00[AFR][1000 genomes]
rs73122793	1.00[AFR][1000 genomes]
rs73122798	1.00[AFR][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73124720	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs757771	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs757998	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50861000-50867400	Weak transcription	Spleen	Spleen
2	chr7:50861800-50864200	Enhancers	K562	blood
3	chr7:50861800-50867600	Weak transcription	Psoas Muscle	Psoas
4	chr7:50862200-50867400	Weak transcription	Left Ventricle	heart
5	chr7:50862200-50889000	Weak transcription	Right Atrium	heart
6	chr7:50863000-50863600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:50863000-50864000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:50863200-50864000	Enhancers	A549	lung
9	chr7:50863200-50865000	Enhancers	Pancreas	Pancrea
10	chr7:50863400-50863600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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