Variant report

Variant	rs6509509
Chromosome Location	chr19:51505371-51505372
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	EGR1	chr19:51505334-51506467	HCT-116	colon:	n/a	chr19:51505717-51505724 chr19:51505717-51505730 chr19:51505716-51505731
2	MAZ	chr19:51505320-51506299	K562	blood:	n/a	chr19:51505421-51505431
3	POLR2A	chr19:51504104-51506325	HCT-116	colon:	n/a	n/a
4	ZBTB7A	chr19:51505028-51506314	K562	blood:	n/a	n/a
5	POLR2A	chr19:51504176-51506264	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
KLK8	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10420303	0.85[CEU][hapmap];0.80[MEX][hapmap]
rs1532901	0.86[CEU][hapmap]
rs1612902	0.85[AMR][1000 genomes]
rs1654520	0.85[CEU][hapmap]
rs1654521	0.81[CEU][hapmap]
rs1654539	0.84[CEU][hapmap]
rs1654542	0.88[CEU][hapmap];0.85[AMR][1000 genomes]
rs1654543	0.85[CEU][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap]
rs1654559	0.83[GIH][hapmap]
rs1698	0.95[CHD][hapmap]
rs1701915	0.84[CEU][hapmap]
rs1701946	0.81[CEU][hapmap]
rs1701947	0.92[CEU][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.86[EUR][1000 genomes]
rs1722550	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1722560	0.84[CEU][hapmap];0.82[GIH][hapmap]
rs1722563	0.85[AMR][1000 genomes]
rs1829971	0.83[ASN][1000 genomes]
rs1897605	0.85[AMR][1000 genomes]
rs1897606	0.83[AMR][1000 genomes]
rs2075802	0.88[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2222554	0.82[JPT][hapmap]
rs2569456	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];1.00[ASN][1000 genomes]
rs2569478	0.81[CEU][hapmap]
rs2659095	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[ASN][1000 genomes]
rs2659096	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.97[ASN][1000 genomes]
rs268894	0.85[CEU][hapmap]
rs268898	0.81[CEU][hapmap]
rs268899	0.81[GIH][hapmap]
rs2691208	0.81[CHD][hapmap]
rs2739429	0.95[CHD][hapmap]
rs906190	0.83[GIH][hapmap]
rs952108	0.85[CEU][hapmap]
rs952109	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:26 , 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	chr19:51503600-51505800	Active TSS	Esophagus	oesophagus
7	chr19:51503600-51506400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr19:51503800-51505400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr19:51503800-51506200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:51504000-51506000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:51504200-51506000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:51504200-51506000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr19:51504200-51506400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr19:51504400-51505400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:51504400-51505400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:51504400-51505800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:51504600-51505600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr19:51504600-51505600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:51504600-51505600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:51504800-51506400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr19:51505000-51505400	Enhancers	K562	blood
22	chr19:51505000-51505800	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr19:51505000-51506000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr19:51505200-51505400	Bivalent Enhancer	A549	lung
25	chr19:51505200-51506000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr19:51505200-51506200	Active TSS	HUES6 Cell Line	embryonic stem cell

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