Variant report

Variant	rs4236487
Chromosome Location	chr7:139992334-139992335
allele	A/G
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:0)
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	chr7:139992322-139992372	HCT-116	colon:	n/a
2	chr7:139992322-139992372	MCF10A-Er-Src	breast:	n/a
3	chr7:139992322-139992372	GM19239	blood:	n/a
4	chr7:139992322-139992372	HNPCEpiC	eye:	n/a
5	chr7:139992322-139992372	SK-N-SH_RA	brain:	n/a
6	chr7:139992322-139992372	NT2-D1	testis:	n/a
7	chr7:139992322-139992372	HAEpiC	amniotic membrane:	n/a
8	chr7:139992322-139992372	HepG2	liver:	n/a
9	chr7:139992322-139992372	GM12891	blood:	n/a
10	chr7:139992322-139992372	NHDF-neo	bronchial:	n/a
11	chr7:139992322-139992372	NB4	blood:	n/a
12	chr7:139992322-139992372	HCF	heart:	n/a
13	chr7:139992322-139992372	GM12878	blood:	n/a
14	chr7:139992322-139992372	PFSK-1	brain:	n/a
15	chr7:139992322-139992372	HEEpiC	esophagus:	n/a
16	chr7:139992322-139992372	GM06990	blood:	n/a
17	chr7:139992322-139992372	MCF-7	breast:	n/a
18	chr7:139992322-139992372	LNCaP	prostate:	n/a
19	chr7:139992322-139992372	SAEC	small airway:	n/a
20	chr7:139992322-139992372	SKMC	muscle:	n/a
21	chr7:139992322-139992372	AoSMC	blood vessel:	n/a
22	chr7:139992322-139992372	HCPEpiC	choroid plexus:	n/a
23	chr7:139992322-139992372	AG04449	skin:	fetal
24	chr7:139992322-139992372	ECC-1	luminal epithelium:	n/a
25	chr7:139992322-139992372	BE2_C	brain:	n/a
26	chr7:139992322-139992372	AG09319	gingival:	n/a
27	chr7:139992322-139992372	HMEC	breast:	n/a
28	chr7:139992322-139992372	HIPEpiC	eye:	n/a
29	chr7:139992322-139992372	RPTEC	kidney:	n/a
30	chr7:139992322-139992372	BJ	skin:	n/a
31	chr7:139992322-139992372	AG09309	skin:	n/a
32	chr7:139992322-139992372	HRE	kidney:	n/a
33	chr7:139992322-139992372	HCM	heart:	n/a
34	chr7:139992322-139992372	NH-A	brain:	n/a
35	chr7:139992322-139992372	Hela-S3	cervix:	n/a
36	chr7:139992322-139992372	A549	lung:	n/a
37	chr7:139992322-139992372	Jurkat	blood:	n/a
38	chr7:139992322-139992372	HPAEpiC	pulmonary alveolar:	n/a
39	chr7:139992322-139992372	ovcar-3	ovarian:	n/a
40	chr7:139992322-139992372	AG10803	skin:	n/a
41	chr7:139992322-139992372	HEK293	kidney:	embryo
42	chr7:139992322-139992372	PrEC	prostate:	n/a
43	chr7:139992322-139992372	K562	blood:	n/a
44	chr7:139992322-139992372	T-47D	breast:	n/a
45	chr7:139992322-139992372	Caco-2	colon:	n/a
46	chr7:139992322-139992372	GM12892	blood:	n/a
47	chr7:139992322-139992372	AG04450	lung:	fetal
48	chr7:139992322-139992372	Hepatocyte	liver:	n/a
49	chr7:139992322-139992372	SK-N-SH	brain:	n/a
50	chr7:139992322-139992372	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
PPP1R2P6	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12532105	0.88[ASN][1000 genomes]
rs12532353	0.88[ASN][1000 genomes]
rs2429211	0.83[ASN][1000 genomes]
rs2471319	0.83[ASN][1000 genomes]
rs4236486	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639430	0.88[ASN][1000 genomes]
rs4726753	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60039229	0.82[ASN][1000 genomes]
rs62491830	0.88[ASN][1000 genomes]
rs62491833	0.88[ASN][1000 genomes]
rs62491835	0.87[ASN][1000 genomes]
rs62491836	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6979854	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv519667	chr7:139969051-139992387	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139975600-140002600	Weak transcription	Right Atrium	heart
2	chr7:139977400-139995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:139986800-140007800	Weak transcription	Fetal Intestine Small	intestine
4	chr7:139992000-139992400	Weak transcription	HepG2	liver

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