Variant report

Variant	rs295276
Chromosome Location	chr9:86433794-86433795
allele	C/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:2)
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	chr9:86433764-86433814	H1-hESC	embryonic stem cell:	embryo
2	chr9:86433764-86433814	K562	blood:	n/a
3	chr9:86433764-86433814	HMEC	breast:	n/a
4	chr9:86433764-86433814	NT2-D1	testis:	n/a
5	chr9:86433764-86433814	HRPEpiC	eye:	n/a
6	chr9:86433764-86433814	CMK	blood:	n/a
7	chr9:86433764-86433814	RPTEC	kidney:	n/a
8	chr9:86433764-86433814	Hepatocyte	liver:	n/a
9	chr9:86433764-86433814	HAEpiC	amniotic membrane:	n/a
10	chr9:86433764-86433814	U87	brain:	n/a
11	chr9:86433764-86433814	SK-N-MC	brain:	n/a
12	chr9:86433764-86433814	BE2_C	brain:	n/a
13	chr9:86433764-86433814	SK-N-SH	brain:	n/a
14	chr9:86433764-86433814	ProgFib	skin:	n/a
15	chr9:86433764-86433814	Caco-2	colon:	n/a
16	chr9:86433764-86433814	HCT-116	colon:	n/a
17	chr9:86433764-86433814	PANC-1	pancreas:	n/a
18	chr9:86433764-86433814	AG04449	skin:	fetal
19	chr9:86433764-86433814	HUVEC	blood vessel:	n/a
20	chr9:86433764-86433814	GM19239	blood:	n/a
21	chr9:86433764-86433814	MCF10A-Er-Src	breast:	n/a
22	chr9:86433764-86433814	HPAEpiC	pulmonary alveolar:	n/a
23	chr9:86433764-86433814	PrEC	prostate:	n/a
24	chr9:86433764-86433814	GM06990	blood:	n/a
25	chr9:86433764-86433814	NB4	blood:	n/a
26	chr9:86433764-86433814	HEK293	kidney:	embryo
27	chr9:86433764-86433814	SKMC	muscle:	n/a
28	chr9:86433764-86433814	HepG2	liver:	n/a
29	chr9:86433764-86433814	Hela-S3	cervix:	n/a
30	chr9:86433764-86433814	HL-60	blood:	n/a
31	chr9:86433764-86433814	AG04450	lung:	fetal
32	chr9:86433764-86433814	NH-A	brain:	n/a
33	chr9:86433764-86433814	T-47D	breast:	n/a
34	chr9:86433764-86433814	AoSMC	blood vessel:	n/a
35	chr9:86433764-86433814	BJ	skin:	n/a
36	chr9:86433764-86433814	HCPEpiC	choroid plexus:	n/a
37	chr9:86433764-86433814	AG09319	gingival:	n/a
38	chr9:86433764-86433814	MCF-7	breast:	n/a
39	chr9:86433764-86433814	HRCEpiC	kidney:	n/a
40	chr9:86433764-86433814	IMR90	lung:	fetal
41	chr9:86433764-86433814	A549	lung:	n/a
42	chr9:86433764-86433814	HIPEpiC	eye:	n/a
43	chr9:86433764-86433814	NHBE	bronchial:	n/a
44	chr9:86433764-86433814	Jurkat	blood:	n/a
45	chr9:86433764-86433814	ovcar-3	ovarian:	n/a
46	chr9:86433764-86433814	HCM	heart:	n/a
47	chr9:86433764-86433814	PFSK-1	brain:	n/a
48	chr9:86433764-86433814	HRE	kidney:	n/a
49	chr9:86433764-86433814	ECC-1	luminal epithelium:	n/a
50	chr9:86433764-86433814	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86321555..86324208-chr9:86431445..86433817,2	MCF-7	breast:
2	chr9:86321469..86324662-chr9:86431245..86433854,3	MCF-7	breast:

No data

Variant related genes	Relation type
GKAP1	CpG island
ENSG00000254473	Chromatin interaction
ENSG00000135018	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10116542	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10118300	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10125556	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10453251	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10746723	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10746724	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs10780628	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs10780629	0.88[AMR][1000 genomes]
rs10780630	0.88[AMR][1000 genomes]
rs10780631	0.96[CEU][hapmap]
rs10780632	0.88[AMR][1000 genomes]
rs10780633	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10780634	0.84[AMR][1000 genomes]
rs10868046	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs10868047	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs10868048	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs10868052	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs10868053	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs10868054	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs10868057	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10868059	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10868060	0.96[CEU][hapmap];0.90[AMR][1000 genomes]
rs10868061	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10868062	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10868063	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10868064	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11140236	0.88[AMR][1000 genomes]
rs11140237	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs11140239	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11140242	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11140243	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11140246	0.88[AMR][1000 genomes]
rs11140247	0.96[CEU][hapmap];0.90[AMR][1000 genomes]
rs11140249	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11792650	0.85[AMR][1000 genomes]
rs12057022	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12057070	0.96[CEU][hapmap];0.87[AMR][1000 genomes]
rs12339076	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12344567	1.00[CEU][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1558922	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1582396	0.92[CEU][hapmap];0.86[AMR][1000 genomes]
rs17330622	0.88[AMR][1000 genomes]
rs1831758	0.92[CEU][hapmap]
rs2080664	0.88[AMR][1000 genomes]
rs2098494	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs2111683	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2160821	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2160822	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2274914	0.96[CEU][hapmap]
rs2287373	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs2378660	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28584828	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs295269	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs295271	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs295272	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs295280	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs295281	0.91[AMR][1000 genomes]
rs295282	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs295283	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs295284	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs295285	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs295286	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs295287	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs295290	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs295292	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs295293	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3763622	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3763623	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs390893	0.92[AMR][1000 genomes]
rs4242624	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4298563	0.96[CEU][hapmap]
rs4348579	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4385546	0.88[AMR][1000 genomes]
rs4576496	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4750	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs4877264	0.88[AMR][1000 genomes]
rs4877265	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4877266	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4877802	0.88[AMR][1000 genomes]
rs4877804	0.88[AMR][1000 genomes]
rs4877809	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4877810	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4877811	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55881223	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7021357	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7023396	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7031676	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs7036960	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7042197	0.89[AMR][1000 genomes]
rs7042776	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7044691	0.96[CEU][hapmap];0.88[AMR][1000 genomes]
rs7048546	0.88[AMR][1000 genomes]
rs72749105	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7848686	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7849343	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7859179	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7864189	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7868930	0.88[AMR][1000 genomes]
rs7874436	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7874454	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs918223	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9410590	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9410885	0.85[AMR][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	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2761538	chr9:86401015-86451943	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
6	nsv982312	chr9:86424154-86490046	Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3331113	chr9:86431782-86433830	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86431600-86433800	Active TSS	Stomach Smooth Muscle	stomach
2	chr9:86433200-86433800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr9:86433400-86433800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr9:86433400-86433800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr9:86433400-86435400	Enhancers	HepG2	liver

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