Variant report

Variant	rs11084046
Chromosome Location	chr19:51505801-51505802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr19:51505735-51506306	K562	blood:	n/a	n/a
2	CREB1	chr19:51505675-51506406	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr19:51505720-51505870	NHEK	skin:	n/a	n/a
4	NR2F2	chr19:51505743-51506390	K562	blood:	n/a	n/a
5	JUND	chr19:51505711-51506311	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr19:51505700-51505850	K562	blood:	n/a	n/a
7	USF1	chr19:51505677-51506401	K562	blood:	n/a	n/a
8	RCOR1	chr19:51505709-51505906	K562	blood:	n/a	n/a
9	EGR1	chr19:51505526-51506049	K562	blood:	n/a	chr19:51505717-51505724 chr19:51505717-51505730 chr19:51505716-51505731
10	EGR1	chr19:51505334-51506467	HCT-116	colon:	n/a	chr19:51505717-51505724 chr19:51505717-51505730 chr19:51505716-51505731
11	ELF1	chr19:51505778-51506237	K562	blood:	n/a	n/a
12	TEAD4	chr19:51505605-51506309	K562	blood:	n/a	n/a
13	IRF1	chr19:51505790-51506367	K562	blood:	n/a	n/a
14	MYC	chr19:51505722-51506268	K562	blood:	n/a	n/a
15	TBL1XR1	chr19:51505774-51506239	K562	blood:	n/a	n/a
16	MAZ	chr19:51505320-51506299	K562	blood:	n/a	chr19:51505421-51505431
17	POLR2A	chr19:51505616-51506050	K562	blood:	n/a	n/a
18	CEBPB	chr19:51505625-51506268	K562	blood:	n/a	n/a
19	GTF2F1	chr19:51505761-51505942	K562	blood:	n/a	n/a
20	MAX	chr19:51505631-51506180	A549	lung:	n/a	n/a
21	POLR2A	chr19:51504104-51506325	HCT-116	colon:	n/a	n/a
22	CREB1	chr19:51505718-51506458	K562	blood:	n/a	n/a
23	CREB1	chr19:51505739-51506327	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr19:51505676-51506360	K562	blood:	n/a	n/a
25	E2F6	chr19:51505736-51506038	K562	blood:	n/a	n/a
26	SP1	chr19:51505750-51506343	A549	lung:	n/a	n/a
27	EP300	chr19:51505758-51506258	K562	blood:	n/a	n/a
28	USF1	chr19:51505769-51506253	K562	blood:	n/a	n/a
29	JUN	chr19:51505471-51506743	K562	blood:	n/a	n/a
30	CTCF	chr19:51505740-51505890	HMEC	breast:	n/a	n/a
31	ZBTB7A	chr19:51505028-51506314	K562	blood:	n/a	n/a
32	YY1	chr19:51505793-51506227	HCT-116	colon:	n/a	n/a
33	BHLHE40	chr19:51505735-51506365	K562	blood:	n/a	n/a
34	MAX	chr19:51505499-51506405	K562	blood:	n/a	n/a
35	ZBTB33	chr19:51505730-51506006	HCT-116	colon:	n/a	n/a
36	TBP	chr19:51505718-51506269	K562	blood:	n/a	n/a
37	MAX	chr19:51505768-51506312	K562	blood:	n/a	n/a
38	HMGN3	chr19:51505664-51506453	K562	blood:	n/a	n/a
39	JUN	chr19:51505724-51506300	K562	blood:	n/a	n/a
40	HCFC1	chr19:51505588-51506191	K562	blood:	n/a	n/a
41	EGR1	chr19:51505542-51506378	K562	blood:	n/a	chr19:51505717-51505724 chr19:51505717-51505730 chr19:51505716-51505731
42	MAX	chr19:51505702-51506035	K562	blood:	n/a	n/a
43	MYC	chr19:51505544-51506277	K562	blood:	n/a	n/a
44	CBX3	chr19:51505605-51506348	K562	blood:	n/a	n/a
45	MXI1	chr19:51505663-51506174	K562	blood:	n/a	n/a
46	HEY1	chr19:51505702-51506087	K562	blood:	n/a	n/a
47	RCOR1	chr19:51505716-51506265	K562	blood:	n/a	n/a
48	ATF3	chr19:51505767-51506301	K562	blood:	n/a	n/a
49	POLR2A	chr19:51504176-51506264	HCT-116	colon:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51505779-51505829	ProgFib	skin:	n/a
2	chr19:51505779-51505829	PFSK-1	brain:	n/a
3	chr19:51505779-51505829	CMK	blood:	n/a
4	chr19:51505779-51505829	HAEpiC	amniotic membrane:	n/a
5	chr19:51505779-51505829	PANC-1	pancreas:	n/a
6	chr19:51505779-51505829	RPTEC	kidney:	n/a
7	chr19:51505779-51505829	AG09319	gingival:	n/a
8	chr19:51505779-51505829	ECC-1	luminal epithelium:	n/a
9	chr19:51505779-51505829	HEK293	kidney:	embryo
10	chr19:51505779-51505829	GM12891	blood:	n/a
11	chr19:51505779-51505829	HRCEpiC	kidney:	n/a
12	chr19:51505779-51505829	NH-A	brain:	n/a
13	chr19:51505779-51505829	Hepatocyte	liver:	n/a
14	chr19:51505779-51505829	K562	blood:	n/a
15	chr19:51505779-51505829	HNPCEpiC	eye:	n/a
16	chr19:51505779-51505829	NT2-D1	testis:	n/a
17	chr19:51505779-51505829	NHBE	bronchial:	n/a
18	chr19:51505779-51505829	HepG2	liver:	n/a
19	chr19:51505779-51505829	HUVEC	blood vessel:	n/a
20	chr19:51505779-51505829	U87	brain:	n/a
21	chr19:51505779-51505829	HEEpiC	esophagus:	n/a
22	chr19:51505779-51505829	GM12892	blood:	n/a
23	chr19:51505779-51505829	GM19239	blood:	n/a
24	chr19:51505779-51505829	HCF	heart:	n/a
25	chr19:51505779-51505829	T-47D	breast:	n/a
26	chr19:51505779-51505829	HIPEpiC	eye:	n/a
27	chr19:51505779-51505829	A549	lung:	n/a
28	chr19:51505779-51505829	HRPEpiC	eye:	n/a
29	chr19:51505779-51505829	HL-60	blood:	n/a
30	chr19:51505779-51505829	HRE	kidney:	n/a
31	chr19:51505779-51505829	HCM	heart:	n/a
32	chr19:51505779-51505829	Caco-2	colon:	n/a
33	chr19:51505779-51505829	LNCaP	prostate:	n/a
34	chr19:51505779-51505829	H1-hESC	embryonic stem cell:	embryo
35	chr19:51505779-51505829	AG10803	skin:	n/a
36	chr19:51505779-51505829	SK-N-MC	brain:	n/a
37	chr19:51505779-51505829	GM06990	blood:	n/a
38	chr19:51505779-51505829	NHDF-neo	bronchial:	n/a
39	chr19:51505779-51505829	AG09309	skin:	n/a
40	chr19:51505779-51505829	SKMC	muscle:	n/a
41	chr19:51505779-51505829	Hela-S3	cervix:	n/a
42	chr19:51505779-51505829	AG04449	skin:	fetal
43	chr19:51505779-51505829	SK-N-SH_RA	brain:	n/a
44	chr19:51505779-51505829	AG04450	lung:	fetal
45	chr19:51505779-51505829	PrEC	prostate:	n/a
46	chr19:51505779-51505829	HPAEpiC	pulmonary alveolar:	n/a
47	chr19:51505779-51505829	HCT-116	colon:	n/a
48	chr19:51505779-51505829	HCPEpiC	choroid plexus:	n/a
49	chr19:51505779-51505829	NB4	blood:	n/a
50	chr19:51505779-51505829	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
KLK8	TF binding region
KLK8	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10403407	1.00[CHB][hapmap]
rs10409072	1.00[CHB][hapmap]
rs11084044	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11084045	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11667107	0.88[EUR][1000 genomes]
rs11672663	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1697545	1.00[CHB][hapmap]
rs16988799	0.88[ASW][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16988801	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4299259	0.90[EUR][1000 genomes]
rs6072	1.00[CHB][hapmap]
rs73936105	0.90[EUR][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	nsv1058277	chr19:51488544-51509847	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51503200-51506000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr19:51503200-51506000	Flanking Active TSS	HMEC	breast
3	chr19:51503400-51506000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr19:51503400-51506000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:51503400-51506000	Flanking Active TSS	NHEK	skin
6	chr19:51503600-51506400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:51503800-51506200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:51504000-51506000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:51504200-51506000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:51504200-51506000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr19:51504200-51506400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr19:51504800-51506400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:51505000-51506000	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr19:51505200-51506000	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr19:51505200-51506200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr19:51505400-51506000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:51505400-51506400	Flanking Active TSS	K562	blood
18	chr19:51505600-51506000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:51505600-51506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:51505600-51506000	Flanking Bivalent TSS/Enh	A549	lung
21	chr19:51505800-51506000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:51505800-51506000	Enhancers	Esophagus	oesophagus
23	chr19:51505800-51506200	Bivalent Enhancer	Placenta	Placenta
24	chr19:51505800-51506200	Bivalent Enhancer	Fetal Stomach	stomach
25	chr19:51505800-51506400	Enhancers	H1 Cell Line	embryonic stem cell

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