Variant report

Variant	rs1076860
Chromosome Location	chr4:96760945-96760946
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	chr4:96760945-96760995	SK-N-SH_RA	brain:	n/a
2	chr4:96760945-96760995	HCM	heart:	n/a
3	chr4:96760945-96760995	AG04449	skin:	fetal
4	chr4:96760945-96760995	AG09309	skin:	n/a
5	chr4:96760945-96760995	GM12878	blood:	n/a
6	chr4:96760945-96760995	BJ	skin:	n/a
7	chr4:96760945-96760995	HL-60	blood:	n/a
8	chr4:96760945-96760995	HepG2	liver:	n/a
9	chr4:96760945-96760995	CMK	blood:	n/a
10	chr4:96760945-96760995	PrEC	prostate:	n/a
11	chr4:96760945-96760995	NB4	blood:	n/a
12	chr4:96760945-96760995	HRPEpiC	eye:	n/a
13	chr4:96760945-96760995	HUVEC	blood vessel:	n/a
14	chr4:96760945-96760995	HCT-116	colon:	n/a
15	chr4:96760945-96760995	PANC-1	pancreas:	n/a
16	chr4:96760945-96760995	Jurkat	blood:	n/a
17	chr4:96760945-96760995	HRE	kidney:	n/a
18	chr4:96760945-96760995	BE2_C	brain:	n/a
19	chr4:96760945-96760995	HMEC	breast:	n/a
20	chr4:96760945-96760995	HNPCEpiC	eye:	n/a
21	chr4:96760945-96760995	MCF-7	breast:	n/a
22	chr4:96760945-96760995	ProgFib	skin:	n/a
23	chr4:96760945-96760995	HCPEpiC	choroid plexus:	n/a
24	chr4:96760945-96760995	HEK293	kidney:	embryo
25	chr4:96760945-96760995	GM12891	blood:	n/a
26	chr4:96760945-96760995	NHDF-neo	bronchial:	n/a
27	chr4:96760945-96760995	HCF	heart:	n/a
28	chr4:96760945-96760995	AG09319	gingival:	n/a
29	chr4:96760945-96760995	K562	blood:	n/a
30	chr4:96760945-96760995	LNCaP	prostate:	n/a
31	chr4:96760945-96760995	H1-hESC	embryonic stem cell:	embryo
32	chr4:96760945-96760995	NT2-D1	testis:	n/a
33	chr4:96760945-96760995	RPTEC	kidney:	n/a
34	chr4:96760945-96760995	GM19239	blood:	n/a
35	chr4:96760945-96760995	NHBE	bronchial:	n/a
36	chr4:96760945-96760995	HEEpiC	esophagus:	n/a
37	chr4:96760945-96760995	HIPEpiC	eye:	n/a
38	chr4:96760945-96760995	Hela-S3	cervix:	n/a
39	chr4:96760945-96760995	SK-N-SH	brain:	n/a
40	chr4:96760945-96760995	ECC-1	luminal epithelium:	n/a
41	chr4:96760945-96760995	Caco-2	colon:	n/a
42	chr4:96760945-96760995	HRCEpiC	kidney:	n/a
43	chr4:96760945-96760995	GM06990	blood:	n/a
44	chr4:96760945-96760995	GM12892	blood:	n/a
45	chr4:96760945-96760995	ovcar-3	ovarian:	n/a
46	chr4:96760945-96760995	HAEpiC	amniotic membrane:	n/a
47	chr4:96760945-96760995	U87	brain:	n/a
48	chr4:96760945-96760995	Hepatocyte	liver:	n/a
49	chr4:96760945-96760995	SKMC	muscle:	n/a
50	chr4:96760945-96760995	NH-A	brain:	n/a

No data

Variant related genes	Relation type
PDHA2	CpG island

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10000897	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10008305	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011321	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10019264	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10026739	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1006643	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10212672	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10212751	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212823	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097486	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12506801	0.95[ASN][1000 genomes]
rs12510298	0.93[ASN][1000 genomes]
rs13104815	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13106992	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13107501	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13114782	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13115178	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1369982	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436535	0.95[ASN][1000 genomes]
rs1436539	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436540	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436552	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1816556	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1821736	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1821737	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1836898	0.95[ASN][1000 genomes]
rs1836899	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2014345	0.83[JPT][hapmap]
rs2219277	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4699472	0.90[ASN][1000 genomes]
rs6532577	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6821954	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6840758	0.98[ASN][1000 genomes]
rs6842353	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842388	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6842436	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844037	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6848398	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6848743	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7659447	0.94[ASN][1000 genomes]
rs920155	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs920157	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998027	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997304	chr4:96575198-96861349	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1010830	chr4:96607025-96862878	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv537191	chr4:96607025-96862878	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv594915	chr4:96628653-97086618	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv428767	chr4:96676384-96831793	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv879628	chr4:96739251-96778499	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv879629	chr4:96747135-96818263	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv10537	chr4:96757571-96956294	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96758800-96761000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr4:96760400-96761000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:96760400-96761400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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