Variant report

Variant	rs10516983
Chromosome Location	chr4:96761233-96761234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 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	MYC	chr4:96761182-96761237	MCF-7	breast:	n/a	n/a
5	CTCF	chr4:96761211-96761268	Fibrobl	skin:	n/a	n/a
6	RAD21	chr4:96761128-96761368	H1-hESC	embryonic stem cell:	n/a	chr4:96761272-96761284

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:96761231-96761281	AG09319	gingival:	n/a
2	chr4:96761229-96761279	MCF-7	breast:	n/a
3	chr4:96761231-96761281	HUVEC	blood vessel:	n/a
4	chr4:96761229-96761279	HUVEC	blood vessel:	n/a
5	chr4:96761229-96761279	PANC-1	pancreas:	n/a
6	chr4:96761231-96761281	SK-N-SH_RA	brain:	n/a
7	chr4:96761229-96761279	GM06990	blood:	n/a
8	chr4:96761229-96761279	NHDF-neo	bronchial:	n/a
9	chr4:96761229-96761279	NT2-D1	testis:	n/a
10	chr4:96761229-96761279	ECC-1	luminal epithelium:	n/a
11	chr4:96761231-96761281	AoSMC	blood vessel:	n/a
12	chr4:96761231-96761281	LNCaP	prostate:	n/a
13	chr4:96761231-96761281	NHBE	bronchial:	n/a
14	chr4:96761231-96761281	IMR90	lung:	fetal
15	chr4:96761229-96761279	GM12878	blood:	n/a
16	chr4:96761231-96761281	ProgFib	skin:	n/a
17	chr4:96761229-96761279	HIPEpiC	eye:	n/a
18	chr4:96761231-96761281	GM19239	blood:	n/a
19	chr4:96761231-96761281	AG10803	skin:	n/a
20	chr4:96761229-96761279	K562	blood:	n/a
21	chr4:96761231-96761281	CMK	blood:	n/a
22	chr4:96761231-96761281	HL-60	blood:	n/a
23	chr4:96761229-96761279	BE2_C	brain:	n/a
24	chr4:96761231-96761281	HRCEpiC	kidney:	n/a
25	chr4:96761229-96761279	HL-60	blood:	n/a
26	chr4:96761229-96761279	AG09319	gingival:	n/a
27	chr4:96761231-96761281	HAEpiC	amniotic membrane:	n/a
28	chr4:96761229-96761279	IMR90	lung:	fetal
29	chr4:96761229-96761279	HCF	heart:	n/a
30	chr4:96761229-96761279	HAEpiC	amniotic membrane:	n/a
31	chr4:96761229-96761279	CMK	blood:	n/a
32	chr4:96761229-96761279	LNCaP	prostate:	n/a
33	chr4:96761231-96761281	ECC-1	luminal epithelium:	n/a
34	chr4:96761231-96761281	PFSK-1	brain:	n/a
35	chr4:96761229-96761279	BJ	skin:	n/a
36	chr4:96761231-96761281	HCPEpiC	choroid plexus:	n/a
37	chr4:96761229-96761279	Hela-S3	cervix:	n/a
38	chr4:96761231-96761281	NHDF-neo	bronchial:	n/a
39	chr4:96761231-96761281	SKMC	muscle:	n/a
40	chr4:96761229-96761279	AG09309	skin:	n/a
41	chr4:96761231-96761281	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:96761231-96761281	Hepatocyte	liver:	n/a
43	chr4:96761229-96761279	SK-N-MC	brain:	n/a
44	chr4:96761231-96761281	HIPEpiC	eye:	n/a
45	chr4:96761231-96761281	GM06990	blood:	n/a
46	chr4:96761229-96761279	HCT-116	colon:	n/a
47	chr4:96761229-96761279	Hepatocyte	liver:	n/a
48	chr4:96761231-96761281	BJ	skin:	n/a
49	chr4:96761229-96761279	NH-A	brain:	n/a
50	chr4:96761229-96761279	A549	lung:	n/a

No data

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12640523	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643419	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648175	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16996519	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024840	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024859	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67098102	0.84[ASN][1000 genomes]
rs72671109	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684067	0.84[ASN][1000 genomes]
rs72874533	0.81[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	chr4:96761200-96761400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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