Variant report

Variant	rs34542531
Chromosome Location	chr19:51504415-51504416
allele	C/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	RAD21	chr19:51504167-51504641	H1-hESC	embryonic stem cell:	n/a	chr19:51504326-51504339
2	MAX	chr19:51504172-51504630	H1-hESC	embryonic stem cell:	n/a	chr19:51504444-51504454
3	TEAD4	chr19:51504369-51504810	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr19:51504343-51504474	K562	blood:	n/a	n/a
5	RAD21	chr19:51504305-51504489	K562	blood:	n/a	chr19:51504326-51504339
6	MAX	chr19:51504252-51504552	K562	blood:	n/a	chr19:51504444-51504454
7	BHLHE40	chr19:51504227-51504502	K562	blood:	n/a	n/a
8	MYC	chr19:51504244-51504561	K562	blood:	n/a	chr19:51504444-51504454
9	YY1	chr19:51504243-51504540	HCT-116	colon:	n/a	chr19:51504291-51504302 chr19:51504441-51504455
10	CTCF	chr19:51504280-51504430	HMEC	breast:	n/a	n/a
11	CTCF	chr19:51504340-51504490	HCT-116	colon:	n/a	chr19:51504462-51504475
12	POLR2A	chr19:51504104-51506325	HCT-116	colon:	n/a	n/a
13	E2F6	chr19:51504152-51504609	H1-hESC	embryonic stem cell:	n/a	n/a
14	RCOR1	chr19:51504300-51504535	K562	blood:	n/a	n/a
15	CTCF	chr19:51504360-51504510	K562	blood:	n/a	chr19:51504462-51504475
16	CTCF	chr19:51504247-51504518	NHEK	skin:	n/a	chr19:51504462-51504475
17	POLR2A	chr19:51504399-51504634	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr19:51504320-51504470	HMEC	breast:	n/a	n/a
19	ELF1	chr19:51504217-51504672	K562	blood:	n/a	n/a
20	MAZ	chr19:51504234-51504629	K562	blood:	n/a	chr19:51504444-51504454
21	ELF1	chr19:51504240-51504495	K562	blood:	n/a	n/a
22	HEY1	chr19:51504395-51504682	K562	blood:	n/a	n/a
23	CTCF	chr19:51504164-51504709	K562	blood:	n/a	chr19:51504462-51504475
24	RAD21	chr19:51504260-51504553	H1-hESC	embryonic stem cell:	n/a	chr19:51504326-51504339
25	MYC	chr19:51504314-51504468	K562	blood:	n/a	chr19:51504444-51504454
26	RAD21	chr19:51504251-51504493	K562	blood:	n/a	chr19:51504326-51504339
27	EGR1	chr19:51504261-51504539	K562	blood:	n/a	n/a
28	MAX	chr19:51504189-51504506	K562	blood:	n/a	chr19:51504444-51504454
29	RAD21	chr19:51504303-51504617	H1-hESC	embryonic stem cell:	n/a	chr19:51504326-51504339
30	TEAD4	chr19:51504333-51504833	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF384	chr19:51504343-51504456	K562	blood:	n/a	n/a
32	JUND	chr19:51504391-51504423	K562	blood:	n/a	n/a
33	MAX	chr19:51504312-51504509	K562	blood:	n/a	chr19:51504444-51504454
34	EGR1	chr19:51504237-51504584	K562	blood:	n/a	n/a
35	CTCF	chr19:51504356-51504442	MCF-7	breast:	n/a	n/a
36	MAX	chr19:51504150-51504647	H1-hESC	embryonic stem cell:	n/a	chr19:51504444-51504454
37	CTCF	chr19:51504289-51504563	K562	blood:	n/a	chr19:51504462-51504475
38	CTCF	chr19:51504320-51504470	NHEK	skin:	n/a	n/a
39	CTCF	chr19:51504269-51504563	H1-hESC	embryonic stem cell:	n/a	chr19:51504462-51504475
40	E2F6	chr19:51504288-51504474	K562	blood:	n/a	n/a
41	CTCF	chr19:51504253-51504602	H1-hESC	embryonic stem cell:	n/a	chr19:51504462-51504475
42	CTCF	chr19:51504314-51504447	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr19:51504276-51504594	K562	blood:	n/a	chr19:51504462-51504475
44	POLR2A	chr19:51504176-51506264	HCT-116	colon:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLK9-1	chr19:51504354-51504431	NONHSAT067403

Variant related genes	Relation type
KLK8	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10401897	0.84[AMR][1000 genomes]
rs10404395	1.00[ASN][1000 genomes]
rs10407580	0.84[AMR][1000 genomes]
rs10407943	0.84[AMR][1000 genomes]
rs10408459	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10409072	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10409565	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10410942	1.00[ASN][1000 genomes]
rs10415816	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13344653	0.84[AMR][1000 genomes]
rs13345336	0.84[AMR][1000 genomes]
rs28528952	1.00[ASN][1000 genomes]
rs28707546	0.84[AMR][1000 genomes]
rs56707394	1.00[ASN][1000 genomes]

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:23 , 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	chr19:51504000-51505000	Flanking Active TSS	K562	blood
11	chr19:51504000-51506000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr19:51504200-51504600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr19:51504200-51504600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr19:51504200-51504600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:51504200-51506000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:51504200-51506000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr19:51504200-51506400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr19:51504400-51504600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr19:51504400-51504600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:51504400-51505200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr19:51504400-51505400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:51504400-51505400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:51504400-51505800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links