Variant report

Variant	rs60727593
Chromosome Location	chr7:71803457-71803458
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr7:71803226-71803657	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:71803433-71803483	HCPEpiC	choroid plexus:	n/a
2	chr7:71803433-71803483	NT2-D1	testis:	n/a
3	chr7:71803433-71803483	HCT-116	colon:	n/a
4	chr7:71803433-71803483	PFSK-1	brain:	n/a
5	chr7:71803433-71803483	K562	blood:	n/a
6	chr7:71803433-71803483	ECC-1	luminal epithelium:	n/a
7	chr7:71803433-71803483	HEEpiC	esophagus:	n/a
8	chr7:71803433-71803483	Jurkat	blood:	n/a
9	chr7:71803433-71803483	SKMC	muscle:	n/a
10	chr7:71803433-71803483	GM12878	blood:	n/a
11	chr7:71803433-71803483	HNPCEpiC	eye:	n/a
12	chr7:71803433-71803483	AG09319	gingival:	n/a
13	chr7:71803433-71803483	HMEC	breast:	n/a
14	chr7:71803433-71803483	HRPEpiC	eye:	n/a
15	chr7:71803433-71803483	NHDF-neo	bronchial:	n/a
16	chr7:71803433-71803483	Hepatocyte	liver:	n/a
17	chr7:71803433-71803483	SAEC	small airway:	n/a
18	chr7:71803433-71803483	ovcar-3	ovarian:	n/a
19	chr7:71803433-71803483	HUVEC	blood vessel:	n/a
20	chr7:71803433-71803483	Hela-S3	cervix:	n/a
21	chr7:71803433-71803483	PANC-1	pancreas:	n/a
22	chr7:71803433-71803483	NB4	blood:	n/a
23	chr7:71803433-71803483	PrEC	prostate:	n/a
24	chr7:71803433-71803483	LNCaP	prostate:	n/a
25	chr7:71803433-71803483	MCF10A-Er-Src	breast:	n/a
26	chr7:71803433-71803483	H1-hESC	embryonic stem cell:	embryo
27	chr7:71803433-71803483	GM06990	blood:	n/a
28	chr7:71803433-71803483	HRE	kidney:	n/a
29	chr7:71803433-71803483	HepG2	liver:	n/a
30	chr7:71803433-71803483	GM19239	blood:	n/a
31	chr7:71803433-71803483	SK-N-SH	brain:	n/a
32	chr7:71803433-71803483	SK-N-SH_RA	brain:	n/a
33	chr7:71803433-71803483	HAEpiC	amniotic membrane:	n/a
34	chr7:71803433-71803483	Caco-2	colon:	n/a
35	chr7:71803433-71803483	GM12892	blood:	n/a
36	chr7:71803433-71803483	IMR90	lung:	fetal
37	chr7:71803433-71803483	U87	brain:	n/a
38	chr7:71803433-71803483	HIPEpiC	eye:	n/a
39	chr7:71803433-71803483	T-47D	breast:	n/a
40	chr7:71803433-71803483	A549	lung:	n/a
41	chr7:71803433-71803483	RPTEC	kidney:	n/a
42	chr7:71803433-71803483	BE2_C	brain:	n/a
43	chr7:71803433-71803483	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:71803433-71803483	HCF	heart:	n/a
45	chr7:71803433-71803483	AoSMC	blood vessel:	n/a
46	chr7:71803433-71803483	NH-A	brain:	n/a
47	chr7:71803433-71803483	SK-N-MC	brain:	n/a
48	chr7:71803433-71803483	AG10803	skin:	n/a
49	chr7:71803433-71803483	HCM	heart:	n/a
50	chr7:71803433-71803483	AG04450	lung:	fetal

No data

Variant related genes	Relation type
CALN1	TF binding region
CALN1	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10216196	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10216236	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10229537	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10232132	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10237700	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10246004	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10256498	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10267518	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10274751	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11773659	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28625158	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2944826	0.83[EUR][1000 genomes]
rs58891553	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6968408	0.81[EUR][1000 genomes]
rs73362932	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv491610	chr7:71422560-71803630	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv817506	chr7:71488542-71935721	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1034282	chr7:71531113-71876617	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv529620	chr7:71604785-71935721	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv492243	chr7:71648955-71935721	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1019700	chr7:71677836-71844973	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv538943	chr7:71677836-71844973	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv607460	chr7:71713735-71817899	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv470299	chr7:71740458-71815170	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv464556	chr7:71740458-71817899	Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv464557	chr7:71744896-71935721	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv607461	chr7:71744896-71935721	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1029656	chr7:71745055-71935721	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv428170	chr7:71783434-71917539	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71803000-71803600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
2	chr7:71803000-71803600	Bivalent Enhancer	Fetal Brain Male	brain
3	chr7:71803000-71803600	Enhancers	Pancreas	Pancrea
4	chr7:71803000-71812800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:71803400-71803600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:71803400-71803600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:71803400-71803600	Bivalent Enhancer	Fetal Thymus	thymus
8	chr7:71803400-71803600	Active TSS	Thymus	Thymus

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