Variant report

Variant	rs6840758
Chromosome Location	chr4:96761144-96761145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr4:96761119-96761331	H1-hESC	embryonic stem cell:	n/a	chr4:96761272-96761284
2	RAD21	chr4:96761038-96761506	H1-hESC	embryonic stem cell:	n/a	chr4:96761272-96761284
3	GABPA	chr4:96761052-96761367	K562	blood:	n/a	n/a
4	RAD21	chr4:96761128-96761368	H1-hESC	embryonic stem cell:	n/a	chr4:96761272-96761284

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:96761135-96761185	IMR90	lung:	fetal
2	chr4:96761135-96761185	HUVEC	blood vessel:	n/a
3	chr4:96761135-96761185	HRCEpiC	kidney:	n/a
4	chr4:96761135-96761185	HEEpiC	esophagus:	n/a
5	chr4:96761135-96761185	HCPEpiC	choroid plexus:	n/a
6	chr4:96761135-96761185	A549	lung:	n/a
7	chr4:96761135-96761185	HCM	heart:	n/a
8	chr4:96761135-96761185	NHBE	bronchial:	n/a
9	chr4:96761135-96761185	HRE	kidney:	n/a
10	chr4:96761135-96761185	Hela-S3	cervix:	n/a
11	chr4:96761135-96761185	SAEC	small airway:	n/a
12	chr4:96761135-96761185	SK-N-SH	brain:	n/a
13	chr4:96761135-96761185	HL-60	blood:	n/a
14	chr4:96761135-96761185	SK-N-SH_RA	brain:	n/a
15	chr4:96761135-96761185	PANC-1	pancreas:	n/a
16	chr4:96761135-96761185	SK-N-MC	brain:	n/a
17	chr4:96761135-96761185	GM12878	blood:	n/a
18	chr4:96761135-96761185	HCF	heart:	n/a
19	chr4:96761135-96761185	LNCaP	prostate:	n/a
20	chr4:96761135-96761185	H1-hESC	embryonic stem cell:	embryo
21	chr4:96761135-96761185	HRPEpiC	eye:	n/a
22	chr4:96761135-96761185	HCT-116	colon:	n/a
23	chr4:96761135-96761185	MCF-7	breast:	n/a
24	chr4:96761135-96761185	RPTEC	kidney:	n/a
25	chr4:96761135-96761185	HNPCEpiC	eye:	n/a
26	chr4:96761135-96761185	BE2_C	brain:	n/a
27	chr4:96761135-96761185	AoSMC	blood vessel:	n/a
28	chr4:96761135-96761185	HMEC	breast:	n/a
29	chr4:96761135-96761185	AG04449	skin:	fetal
30	chr4:96761135-96761185	PrEC	prostate:	n/a
31	chr4:96761135-96761185	Caco-2	colon:	n/a
32	chr4:96761135-96761185	SKMC	muscle:	n/a
33	chr4:96761135-96761185	AG09309	skin:	n/a
34	chr4:96761135-96761185	T-47D	breast:	n/a
35	chr4:96761135-96761185	K562	blood:	n/a
36	chr4:96761135-96761185	U87	brain:	n/a
37	chr4:96761135-96761185	AG09319	gingival:	n/a
38	chr4:96761135-96761185	HEK293	kidney:	embryo
39	chr4:96761135-96761185	GM12891	blood:	n/a
40	chr4:96761135-96761185	HepG2	liver:	n/a
41	chr4:96761135-96761185	CMK	blood:	n/a
42	chr4:96761135-96761185	HPAEpiC	pulmonary alveolar:	n/a
43	chr4:96761135-96761185	ovcar-3	ovarian:	n/a
44	chr4:96761135-96761185	GM06990	blood:	n/a
45	chr4:96761135-96761185	NB4	blood:	n/a
46	chr4:96761135-96761185	NH-A	brain:	n/a
47	chr4:96761135-96761185	ECC-1	luminal epithelium:	n/a
48	chr4:96761135-96761185	GM12892	blood:	n/a
49	chr4:96761135-96761185	HAEpiC	amniotic membrane:	n/a
50	chr4:96761135-96761185	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
PDHA2	TF binding region
PDHA2	CpG island

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10000897	0.97[ASN][1000 genomes]
rs10008305	0.98[ASN][1000 genomes]
rs10011321	0.96[ASN][1000 genomes]
rs10019264	0.94[ASN][1000 genomes]
rs10026739	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1006643	0.97[ASN][1000 genomes]
rs10212672	0.97[ASN][1000 genomes]
rs10212751	0.98[ASN][1000 genomes]
rs10212823	0.98[ASN][1000 genomes]
rs1076860	0.98[ASN][1000 genomes]
rs11097486	0.97[ASN][1000 genomes]
rs12506801	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12510298	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13104815	0.97[ASN][1000 genomes]
rs13106992	0.97[ASN][1000 genomes]
rs13107501	0.97[ASN][1000 genomes]
rs13114782	0.97[ASN][1000 genomes]
rs13115178	0.97[ASN][1000 genomes]
rs1369982	0.97[ASN][1000 genomes]
rs1436535	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1436539	0.97[ASN][1000 genomes]
rs1436540	0.97[ASN][1000 genomes]
rs1436552	0.91[ASN][1000 genomes]
rs1816556	0.81[ASN][1000 genomes]
rs1821736	0.97[ASN][1000 genomes]
rs1836898	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1836899	0.94[ASN][1000 genomes]
rs2219277	0.81[ASN][1000 genomes]
rs3975033	0.81[EUR][1000 genomes]
rs4699472	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6532577	0.91[ASN][1000 genomes]
rs6821954	0.97[ASN][1000 genomes]
rs6842353	0.98[ASN][1000 genomes]
rs6842388	0.94[ASN][1000 genomes]
rs6842436	0.98[ASN][1000 genomes]
rs6844037	0.80[ASN][1000 genomes]
rs6848398	0.97[ASN][1000 genomes]
rs6848743	0.97[ASN][1000 genomes]
rs7659447	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs920155	0.97[ASN][1000 genomes]
rs920157	0.98[ASN][1000 genomes]
rs9998027	0.97[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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96760400-96761400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:96761000-96761200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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