Variant report

Variant	rs1701934
Chromosome Location	chr19:51400401-51400402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51400331-51400577	GM12878	blood:	n/a	n/a
2	USF2	chr19:51399820-51401101	GM12878	blood:	n/a	n/a
3	POU2F2	chr19:51399676-51400538	GM12891	blood:	n/a	n/a
4	RELA	chr19:51399813-51401112	GM18526	blood:	n/a	n/a
5	MEF2A	chr19:51399716-51400472	GM12878	blood:	n/a	chr19:51400074-51400082
6	TBP	chr19:51399741-51400985	GM12878	blood:	n/a	n/a
7	CEBPB	chr19:51399685-51400979	GM12878	blood:	n/a	n/a
8	MXI1	chr19:51399745-51401061	GM12878	blood:	n/a	n/a
9	EP300	chr19:51399783-51401081	GM12878	blood:	n/a	chr19:51400074-51400083
10	FOXM1	chr19:51399719-51400928	GM12878	blood:	n/a	n/a
11	RELA	chr19:51399839-51401122	GM19099	blood:	n/a	n/a
12	EBF1	chr19:51399732-51401194	GM12878	blood:	n/a	n/a
13	MTA3	chr19:51399720-51401135	GM12878	blood:	n/a	n/a
14	EP300	chr19:51399719-51401397	GM12878	blood:	n/a	chr19:51400074-51400083
15	MEF2C	chr19:51399824-51400791	GM12878	blood:	n/a	chr19:51400074-51400082
16	MAX	chr19:51399799-51401112	GM12878	blood:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
17	ATF2	chr19:51399748-51400831	GM12878	blood:	n/a	n/a
18	RUNX3	chr19:51399667-51401253	GM12878	blood:	n/a	chr19:51400137-51400146
19	POU2F2	chr19:51399728-51400408	GM12891	blood:	n/a	n/a
20	SETDB1	chr19:51399719-51400418	U2OS	brain:	n/a	n/a
21	BATF	chr19:51399841-51400784	GM12878	blood:	n/a	n/a
22	USF1	chr19:51399766-51400405	HCT-116	colon:	n/a	n/a
23	FOXM1	chr19:51399672-51400874	GM12878	blood:	n/a	n/a
24	BCL3	chr19:51399741-51400491	GM12878	blood:	n/a	n/a
25	JUN	chr19:51399667-51400872	K562	blood:	n/a	chr19:51400073-51400083 chr19:51400073-51400083 chr19:51400072-51400084 chr19:51400073-51400083 chr19:51400031-51400040 chr19:51400030-51400043 chr19:51400073-51400082
26	SP1	chr19:51399735-51401140	GM12878	blood:	n/a	chr19:51400737-51400750
27	STAT5A	chr19:51399721-51400994	GM12878	blood:	n/a	chr19:51400073-51400082
28	SREBP2	chr19:51399463-51401377	GM12878	blood:	n/a	n/a
29	WRNIP1	chr19:51399791-51401549	GM12878	blood:	n/a	n/a
30	NFATC1	chr19:51399764-51400693	GM12878	blood:	n/a	n/a
31	NFIC	chr19:51399682-51400739	GM12878	blood:	n/a	n/a
32	TCF3	chr19:51399752-51401095	GM12878	blood:	n/a	n/a
33	MAX	chr19:51399767-51400464	HCT-116	colon:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
34	STAT1	chr19:51399804-51400875	GM12878	blood:	n/a	chr19:51400073-51400082
35	STAT3	chr19:51399854-51400739	GM12878	blood:	n/a	chr19:51400073-51400082
36	JUND	chr19:51399790-51401173	GM12878	blood:	n/a	chr19:51400073-51400083 chr19:51400073-51400083 chr19:51400072-51400084 chr19:51400073-51400083 chr19:51400072-51400083 chr19:51400031-51400040 chr19:51400073-51400082
37	RELA	chr19:51399845-51401050	GM19193	blood:	n/a	n/a
38	RELA	chr19:51399702-51401142	GM12891	blood:	n/a	n/a
39	IRF4	chr19:51399751-51400636	GM12878	blood:	n/a	n/a
40	POU2F2	chr19:51399658-51401090	GM12878	blood:	n/a	n/a
41	CHD1	chr19:51399763-51401491	GM12878	blood:	n/a	n/a
42	POLR2A	chr19:51399659-51400478	GM12891	blood:	n/a	n/a
43	MEF2A	chr19:51399847-51400418	GM12878	blood:	n/a	chr19:51400074-51400082
44	IKZF1	chr19:51399524-51401263	GM12878	blood:	n/a	n/a
45	RELA	chr19:51399763-51401112	GM10847	blood:	n/a	n/a
46	POLR2A	chr19:51399759-51400818	GM12891	blood:	n/a	n/a
47	MAX	chr19:51399768-51401079	GM12878	blood:	n/a	chr19:51399997-51400008 chr19:51400109-51400120
48	BCLAF1	chr19:51399717-51400646	GM12878	blood:	n/a	n/a
49	IRF4	chr19:51399751-51400817	GM12878	blood:	n/a	n/a
50	TBL1XR1	chr19:51399791-51401010	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51400352-51400402	SK-N-SH	brain:	n/a
2	chr19:51400352-51400402	AG04449	skin:	fetal
3	chr19:51400352-51400402	IMR90	lung:	fetal
4	chr19:51400352-51400402	NHBE	bronchial:	n/a
5	chr19:51400352-51400402	GM06990	blood:	n/a
6	chr19:51400352-51400402	K562	blood:	n/a
7	chr19:51400352-51400402	SK-N-MC	brain:	n/a
8	chr19:51400352-51400402	PFSK-1	brain:	n/a
9	chr19:51400352-51400402	HL-60	blood:	n/a
10	chr19:51400352-51400402	A549	lung:	n/a
11	chr19:51400352-51400402	ovcar-3	ovarian:	n/a
12	chr19:51400352-51400402	GM12892	blood:	n/a
13	chr19:51400352-51400402	HepG2	liver:	n/a
14	chr19:51400352-51400402	NHDF-neo	bronchial:	n/a
15	chr19:51400352-51400402	MCF10A-Er-Src	breast:	n/a
16	chr19:51400352-51400402	LNCaP	prostate:	n/a
17	chr19:51400352-51400402	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:51400352-51400402	PrEC	prostate:	n/a
19	chr19:51400352-51400402	Hela-S3	cervix:	n/a
20	chr19:51400352-51400402	ECC-1	luminal epithelium:	n/a
21	chr19:51400352-51400402	HCM	heart:	n/a
22	chr19:51400352-51400402	NH-A	brain:	n/a
23	chr19:51400352-51400402	HCF	heart:	n/a
24	chr19:51400352-51400402	RPTEC	kidney:	n/a
25	chr19:51400352-51400402	HEK293	kidney:	embryo
26	chr19:51400352-51400402	PANC-1	pancreas:	n/a
27	chr19:51400352-51400402	HEEpiC	esophagus:	n/a
28	chr19:51400352-51400402	BE2_C	brain:	n/a
29	chr19:51400352-51400402	H1-hESC	embryonic stem cell:	embryo
30	chr19:51400352-51400402	BJ	skin:	n/a
31	chr19:51400352-51400402	SKMC	muscle:	n/a
32	chr19:51400352-51400402	ProgFib	skin:	n/a
33	chr19:51400352-51400402	HRCEpiC	kidney:	n/a
34	chr19:51400352-51400402	HIPEpiC	eye:	n/a
35	chr19:51400352-51400402	HMEC	breast:	n/a
36	chr19:51400352-51400402	AoSMC	blood vessel:	n/a
37	chr19:51400352-51400402	AG09309	skin:	n/a
38	chr19:51400352-51400402	GM19239	blood:	n/a
39	chr19:51400352-51400402	AG04450	lung:	fetal
40	chr19:51400352-51400402	Jurkat	blood:	n/a
41	chr19:51400352-51400402	HCT-116	colon:	n/a
42	chr19:51400352-51400402	Hepatocyte	liver:	n/a
43	chr19:51400352-51400402	Caco-2	colon:	n/a
44	chr19:51400352-51400402	GM12891	blood:	n/a
45	chr19:51400352-51400402	U87	brain:	n/a
46	chr19:51400352-51400402	AG09319	gingival:	n/a
47	chr19:51400352-51400402	NT2-D1	testis:	n/a
48	chr19:51400352-51400402	AG10803	skin:	n/a
49	chr19:51400352-51400402	GM12878	blood:	n/a
50	chr19:51400352-51400402	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51305899..51307746-chr19:51399929..51401731,2	K562	blood:
2	chr19:51398902..51402347-chr19:51410482..51413710,3	K562	blood:
3	chr19:51398615..51401717-chr19:51409067..51411982,3	K562	blood:
4	chr19:51306246..51308382-chr19:51400037..51401731,2	K562	blood:
5	chr19:51297092..51299196-chr19:51400128..51402648,2	K562	blood:

Variant related genes	Relation type
KLKP1	TF binding region
KLKP1	CpG island
ENSG00000167747	Chromatin interaction
ENSG00000167749	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1560723	0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1654514	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51397600-51400600	Enhancers	K562	blood
2	chr19:51399400-51401400	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:51399800-51401000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:51399800-51401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:51399800-51401600	Enhancers	HMEC	breast
6	chr19:51399800-51403000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:51400000-51400800	Enhancers	NHEK	skin
8	chr19:51400200-51401000	Flanking Active TSS	GM12878-XiMat	blood
9	chr19:51400400-51400600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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