Variant report

Variant	rs7306202
Chromosome Location	chr12:33139408-33139409
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: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	chr12:33139395-33139445	MCF-7	breast:	n/a
2	chr12:33139395-33139445	HCM	heart:	n/a
3	chr12:33139395-33139445	BE2_C	brain:	n/a
4	chr12:33139395-33139445	HEEpiC	esophagus:	n/a
5	chr12:33139395-33139445	GM06990	blood:	n/a
6	chr12:33139395-33139445	SKMC	muscle:	n/a
7	chr12:33139395-33139445	SAEC	small airway:	n/a
8	chr12:33139395-33139445	ProgFib	skin:	n/a
9	chr12:33139395-33139445	NHBE	bronchial:	n/a
10	chr12:33139395-33139445	AG04450	lung:	fetal
11	chr12:33139395-33139445	ECC-1	luminal epithelium:	n/a
12	chr12:33139395-33139445	HCT-116	colon:	n/a
13	chr12:33139395-33139445	LNCaP	prostate:	n/a
14	chr12:33139395-33139445	Jurkat	blood:	n/a
15	chr12:33139395-33139445	A549	lung:	n/a
16	chr12:33139395-33139445	HAEpiC	amniotic membrane:	n/a
17	chr12:33139395-33139445	Hela-S3	cervix:	n/a
18	chr12:33139395-33139445	AG09319	gingival:	n/a
19	chr12:33139395-33139445	RPTEC	kidney:	n/a
20	chr12:33139395-33139445	GM12891	blood:	n/a
21	chr12:33139395-33139445	HL-60	blood:	n/a
22	chr12:33139395-33139445	BJ	skin:	n/a
23	chr12:33139395-33139445	GM12892	blood:	n/a
24	chr12:33139395-33139445	NB4	blood:	n/a
25	chr12:33139395-33139445	K562	blood:	n/a
26	chr12:33139395-33139445	U87	brain:	n/a
27	chr12:33139395-33139445	PFSK-1	brain:	n/a
28	chr12:33139395-33139445	SK-N-SH_RA	brain:	n/a
29	chr12:33139395-33139445	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:33139395-33139445	SK-N-MC	brain:	n/a
31	chr12:33139395-33139445	ovcar-3	ovarian:	n/a
32	chr12:33139395-33139445	AG09309	skin:	n/a
33	chr12:33139395-33139445	HUVEC	blood vessel:	n/a
34	chr12:33139395-33139445	AoSMC	blood vessel:	n/a
35	chr12:33139395-33139445	GM12878	blood:	n/a
36	chr12:33139395-33139445	PANC-1	pancreas:	n/a
37	chr12:33139395-33139445	Hepatocyte	liver:	n/a
38	chr12:33139395-33139445	IMR90	lung:	fetal
39	chr12:33139395-33139445	AG10803	skin:	n/a
40	chr12:33139395-33139445	AG04449	skin:	fetal
41	chr12:33139395-33139445	HRE	kidney:	n/a
42	chr12:33139395-33139445	HepG2	liver:	n/a
43	chr12:33139395-33139445	HEK293	kidney:	embryo
44	chr12:33139395-33139445	NT2-D1	testis:	n/a
45	chr12:33139395-33139445	HCF	heart:	n/a
46	chr12:33139395-33139445	NHDF-neo	bronchial:	n/a
47	chr12:33139395-33139445	HRCEpiC	kidney:	n/a
48	chr12:33139395-33139445	GM19239	blood:	n/a
49	chr12:33139395-33139445	H1-hESC	embryonic stem cell:	embryo
50	chr12:33139395-33139445	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000257435	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1032702	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1032703	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1032704	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10506098	0.84[EUR][1000 genomes]
rs10844411	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10844428	0.85[EUR][1000 genomes]
rs11052390	0.84[EUR][1000 genomes]
rs11052399	0.84[EUR][1000 genomes]
rs11608737	0.83[EUR][1000 genomes]
rs12367646	0.84[EUR][1000 genomes]
rs1353933	0.84[EUR][1000 genomes]
rs1353934	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1353935	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1392337	0.82[EUR][1000 genomes]
rs1392338	0.82[EUR][1000 genomes]
rs1500073	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1909610	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1909611	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35969824	0.82[EUR][1000 genomes]
rs4318054	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4931672	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4931675	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4931676	0.85[EUR][1000 genomes]
rs4931678	0.84[EUR][1000 genomes]
rs4931679	0.84[EUR][1000 genomes]
rs6488115	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7295724	0.86[EUR][1000 genomes]
rs7305797	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305861	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7306057	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7315188	0.90[EUR][1000 genomes]
rs7977438	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7977579	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs904640	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9738114	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9739928	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs983577	0.84[EUR][1000 genomes]
rs985876	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs985877	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1039909	chr12:33132909-33244419	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1053849	chr12:33132909-33279169	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv976596	chr12:33138757-33140970	Weak transcription Enhancers	TF binding region CpG island	2 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	chr12:33137000-33141600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:33137000-33142200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:33137200-33141400	Weak transcription	Placenta	Placenta
4	chr12:33137200-33141600	Weak transcription	H1 Cell Line	embryonic stem cell

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