Variant report

Variant	rs7420277
Chromosome Location	chr2:152959547-152959548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:152959504-152959554	SK-N-SH_RA	brain:	n/a
2	chr2:152959504-152959554	NH-A	brain:	n/a
3	chr2:152959504-152959554	HIPEpiC	eye:	n/a
4	chr2:152959504-152959554	ProgFib	skin:	n/a
5	chr2:152959504-152959554	CMK	blood:	n/a
6	chr2:152959504-152959554	HCPEpiC	choroid plexus:	n/a
7	chr2:152959504-152959554	HCT-116	colon:	n/a
8	chr2:152959504-152959554	LNCaP	prostate:	n/a
9	chr2:152959504-152959554	HUVEC	blood vessel:	n/a
10	chr2:152959504-152959554	HCM	heart:	n/a
11	chr2:152959504-152959554	GM12892	blood:	n/a
12	chr2:152959504-152959554	NHBE	bronchial:	n/a
13	chr2:152959504-152959554	HAEpiC	amniotic membrane:	n/a
14	chr2:152959504-152959554	A549	lung:	n/a
15	chr2:152959504-152959554	AG10803	skin:	n/a
16	chr2:152959504-152959554	IMR90	lung:	fetal
17	chr2:152959504-152959554	PrEC	prostate:	n/a
18	chr2:152959504-152959554	ECC-1	luminal epithelium:	n/a
19	chr2:152959504-152959554	BE2_C	brain:	n/a
20	chr2:152959504-152959554	NHDF-neo	bronchial:	n/a
21	chr2:152959504-152959554	AG04450	lung:	fetal
22	chr2:152959504-152959554	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:152959504-152959554	HMEC	breast:	n/a
24	chr2:152959504-152959554	ovcar-3	ovarian:	n/a
25	chr2:152959504-152959554	H1-hESC	embryonic stem cell:	embryo
26	chr2:152959504-152959554	HepG2	liver:	n/a
27	chr2:152959504-152959554	Jurkat	blood:	n/a
28	chr2:152959504-152959554	HEEpiC	esophagus:	n/a
29	chr2:152959504-152959554	GM06990	blood:	n/a
30	chr2:152959504-152959554	Hepatocyte	liver:	n/a
31	chr2:152959504-152959554	SKMC	muscle:	n/a
32	chr2:152959504-152959554	HRPEpiC	eye:	n/a
33	chr2:152959504-152959554	SAEC	small airway:	n/a
34	chr2:152959504-152959554	AG09309	skin:	n/a
35	chr2:152959504-152959554	GM12878	blood:	n/a
36	chr2:152959504-152959554	HCF	heart:	n/a
37	chr2:152959504-152959554	SK-N-MC	brain:	n/a
38	chr2:152959504-152959554	MCF10A-Er-Src	breast:	n/a
39	chr2:152959504-152959554	AoSMC	blood vessel:	n/a
40	chr2:152959504-152959554	NT2-D1	testis:	n/a
41	chr2:152959504-152959554	NB4	blood:	n/a
42	chr2:152959504-152959554	AG09319	gingival:	n/a
43	chr2:152959504-152959554	PANC-1	pancreas:	n/a
44	chr2:152959504-152959554	K562	blood:	n/a
45	chr2:152959504-152959554	RPTEC	kidney:	n/a
46	chr2:152959504-152959554	Hela-S3	cervix:	n/a
47	chr2:152959504-152959554	MCF-7	breast:	n/a
48	chr2:152959504-152959554	BJ	skin:	n/a
49	chr2:152959504-152959554	SK-N-SH	brain:	n/a
50	chr2:152959504-152959554	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152957588..152960335-chr2:152975953..152978509,2	K562	blood:

No data

Variant related genes	Relation type
CACNB4	CpG island

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10177222	0.86[EUR][1000 genomes]
rs10187630	0.86[EUR][1000 genomes]
rs10203659	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469642	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10497095	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10497097	0.83[EUR][1000 genomes]
rs10930923	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930939	0.84[EUR][1000 genomes]
rs10930959	0.85[EUR][1000 genomes]
rs1133478	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11694120	0.82[EUR][1000 genomes]
rs11884659	0.82[EUR][1000 genomes]
rs11893841	0.88[EUR][1000 genomes]
rs12328733	0.83[EUR][1000 genomes]
rs12468532	0.84[EUR][1000 genomes]
rs12472524	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12476550	0.83[EUR][1000 genomes]
rs12612557	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12613984	0.88[EUR][1000 genomes]
rs12615156	0.89[EUR][1000 genomes]
rs12621378	0.85[EUR][1000 genomes]
rs12622092	0.83[EUR][1000 genomes]
rs12623355	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12693270	0.84[EUR][1000 genomes]
rs12693271	0.86[EUR][1000 genomes]
rs13003423	0.85[EUR][1000 genomes]
rs13009614	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13424583	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13426474	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13429172	0.84[ASN][1000 genomes]
rs2002247	0.82[EUR][1000 genomes]
rs2345633	0.84[ASN][1000 genomes]
rs2345634	0.84[ASN][1000 genomes]
rs34233450	0.82[EUR][1000 genomes]
rs35155943	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35717822	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3768648	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3768649	0.86[EUR][1000 genomes]
rs3768651	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3806464	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4255959	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4473376	0.86[EUR][1000 genomes]
rs4505521	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4611639	0.81[EUR][1000 genomes]
rs4664084	0.82[EUR][1000 genomes]
rs4664085	0.83[EUR][1000 genomes]
rs4664530	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4664535	0.86[EUR][1000 genomes]
rs4664537	0.86[EUR][1000 genomes]
rs62176474	0.86[EUR][1000 genomes]
rs62176476	0.86[EUR][1000 genomes]
rs62176478	0.83[EUR][1000 genomes]
rs62176479	0.88[EUR][1000 genomes]
rs6650779	0.85[EUR][1000 genomes]
rs6720552	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7419567	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7572616	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7588906	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7605400	0.82[ASN][1000 genomes]
rs9917198	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152956200-152978600	Weak transcription	Aorta	Aorta
2	chr2:152957200-152979400	Weak transcription	Rectal Smooth Muscle	rectum

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