Variant report

Variant	rs60050503
Chromosome Location	chr7:120716018-120716019
allele	C/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	CTCF	chr7:120716009-120716067	GM13977	blood:	n/a	n/a
2	CTCF	chr7:120715980-120716130	K562	blood:	n/a	n/a
3	MYC	chr7:120715951-120717318	K562	blood:	n/a	n/a
4	MAFF	chr7:120715932-120717385	K562	blood:	n/a	n/a
5	STAT5A	chr7:120715918-120717338	K562	blood:	n/a	chr7:120717268-120717279
6	RAD21	chr7:120715923-120716162	K562	blood:	n/a	n/a
7	CEBPB	chr7:120715645-120717109	K562	blood:	n/a	chr7:120716443-120716456
8	CTCF	chr7:120715986-120716129	K562	blood:	n/a	n/a
9	MAFK	chr7:120715922-120717327	K562	blood:	n/a	chr7:120716664-120716675 chr7:120716664-120716675
10	EP300	chr7:120715664-120717666	K562	blood:	n/a	chr7:120717339-120717348
11	POLR2A	chr7:120715930-120717624	K562	blood:	n/a	n/a
12	CEBPB	chr7:120715536-120717686	K562	blood:	n/a	chr7:120716443-120716456
13	JUND	chr7:120715905-120717432	SK-N-SH	brain:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120717341-120717350 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716823-120716835 chr7:120716592-120716604
14	TEAD4	chr7:120715830-120717533	K562	blood:	n/a	n/a
15	TEAD4	chr7:120715650-120717728	K562	blood:	n/a	n/a
16	CUX1	chr7:120715838-120717596	K562	blood:	n/a	n/a
17	TRIM28	chr7:120715894-120717431	K562	blood:	n/a	n/a
18	ARID3A	chr7:120715862-120717615	K562	blood:	n/a	n/a
19	JUN	chr7:120714851-120717650	K562	blood:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120717341-120717350 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716823-120716835 chr7:120716592-120716604
20	BHLHE40	chr7:120715613-120717297	K562	blood:	n/a	n/a
21	CTCF	chr7:120715883-120717352	K562	blood:	n/a	chr7:120717093-120717102 chr7:120717087-120717105
22	ATF3	chr7:120715926-120716892	K562	blood:	n/a	n/a
23	IRF1	chr7:120715821-120717650	K562	blood:	n/a	chr7:120717409-120717421 chr7:120717265-120717279 chr7:120717268-120717278 chr7:120717267-120717281 chr7:120717409-120717420 chr7:120716841-120716853 chr7:120717266-120717280 chr7:120717267-120717279 chr7:120717266-120717279 chr7:120717481-120717492 chr7:120717264-120717278 chr7:120717266-120717279 chr7:120717268-120717282 chr7:120716594-120716603 chr7:120717296-120717310 chr7:120717141-120717148 chr7:120717349-120717363 chr7:120717273-120717280 chr7:120717267-120717284 chr7:120717268-120717279 chr7:120717404-120717421 chr7:120717267-120717279 chr7:120717410-120717424
24	NR2F2	chr7:120715975-120717311	K562	blood:	n/a	n/a
25	JUND	chr7:120715674-120717366	K562	blood:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120717341-120717350 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716823-120716835 chr7:120716592-120716604
26	BACH1	chr7:120716017-120716863	K562	blood:	n/a	chr7:120716591-120716605
27	SMARCA4	chr7:120715927-120717366	K562	blood:	n/a	n/a
28	MYC	chr7:120715892-120717584	K562	blood:	n/a	n/a
29	MAX	chr7:120716012-120716725	K562	blood:	n/a	n/a
30	CEBPD	chr7:120715957-120717457	K562	blood:	n/a	n/a
31	JUN	chr7:120715912-120717630	K562	blood:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120717341-120717350 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716823-120716835 chr7:120716592-120716604
32	RCOR1	chr7:120715935-120717409	K562	blood:	n/a	n/a
33	TBL1XR1	chr7:120715956-120717255	K562	blood:	n/a	n/a
34	CCNT2	chr7:120716002-120717138	K562	blood:	n/a	n/a
35	MAZ	chr7:120715974-120717533	K562	blood:	n/a	n/a
36	CTCF	chr7:120715911-120716209	GM12878	blood:	n/a	n/a
37	TBL1XR1	chr7:120715972-120717694	K562	blood:	n/a	n/a
38	IRF1	chr7:120715897-120717683	K562	blood:	n/a	chr7:120717409-120717421 chr7:120717265-120717279 chr7:120717268-120717278 chr7:120717267-120717281 chr7:120717409-120717420 chr7:120716841-120716853 chr7:120717266-120717280 chr7:120717267-120717279 chr7:120717266-120717279 chr7:120717481-120717492 chr7:120717264-120717278 chr7:120717266-120717279 chr7:120717268-120717282 chr7:120716594-120716603 chr7:120717296-120717310 chr7:120717141-120717148 chr7:120717349-120717363 chr7:120717273-120717280 chr7:120717267-120717284 chr7:120717268-120717279 chr7:120717404-120717421 chr7:120717267-120717279 chr7:120717410-120717424
39	JUN	chr7:120715977-120717281	K562	blood:	n/a	chr7:120716595-120716606 chr7:120716593-120716603 chr7:120716587-120716599 chr7:120716593-120716603 chr7:120716594-120716602 chr7:120716823-120716835 chr7:120716592-120716604

No.	Distal block	Cell Line	Cell type
1	chr7:120688120..120689909-chr7:120713674..120716576,3	K562	blood:
2	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:
3	chr7:120679478..120681225-chr7:120714393..120716184,2	K562	blood:
4	chr7:120701560..120707048-chr7:120714809..120721907,9	K562	blood:
5	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:
6	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
7	chr7:120588429..120592994-chr7:120712560..120717211,6	K562	blood:

Variant related genes	Relation type
CPED1	TF binding region
ENSG00000202225	Chromatin interaction
ENSG00000106034	Chromatin interaction
ENSG00000071243	Chromatin interaction
ENSG00000234927	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10251692	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255706	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261386	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10271436	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953924	0.86[ASN][1000 genomes]
rs10953925	0.86[ASN][1000 genomes]
rs11766764	0.86[ASN][1000 genomes]
rs11977285	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12176609	0.98[ASN][1000 genomes]
rs12666340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12666345	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670604	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12670664	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246689	0.86[ASN][1000 genomes]
rs17143147	0.89[ASN][1000 genomes]
rs2110280	0.82[ASN][1000 genomes]
rs2192290	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192291	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402555	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896300	0.83[ASN][1000 genomes]
rs55748177	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56351875	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466766	0.84[ASN][1000 genomes]
rs6962509	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786867	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
2	chr7:120692800-120719000	Weak transcription	Left Ventricle	heart
3	chr7:120704200-120716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:120706800-120718200	Weak transcription	Psoas Muscle	Psoas
5	chr7:120707200-120716600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:120708200-120725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:120709600-120718600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:120709600-120718800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:120709800-120716200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:120709800-120716200	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:120710000-120721200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:120710200-120716400	Weak transcription	HSMMtube	muscle
13	chr7:120710600-120718600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:120712000-120716200	Weak transcription	Aorta	Aorta
16	chr7:120714200-120716400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:120714200-120719400	Weak transcription	HepG2	liver
18	chr7:120714400-120716200	Weak transcription	HSMM	muscle
19	chr7:120714600-120716400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:120714600-120716800	Weak transcription	Ovary	ovary
21	chr7:120715000-120719200	Weak transcription	Liver	Liver
22	chr7:120715200-120716200	Weak transcription	NHEK	skin
23	chr7:120715600-120721400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:120715800-120716600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:120715800-120716600	Enhancers	HMEC	breast
26	chr7:120715800-120717200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:120715800-120725000	Weak transcription	Fetal Stomach	stomach
28	chr7:120716000-120716200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:120716000-120716200	Enhancers	NHLF	lung
30	chr7:120716000-120716400	Flanking Active TSS	K562	blood
31	chr7:120716000-120716400	Enhancers	NHDF-Ad	bronchial
32	chr7:120716000-120716600	Enhancers	Osteobl	bone
33	chr7:120716000-120717200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:120716000-120717400	Enhancers	Adipose Nuclei	Adipose
35	chr7:120716000-120717600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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