Variant report

Variant	rs35287633
Chromosome Location	chr19:51976148-51976149
allele	A/C/T
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	chr19:51976038-51976770	HCT-116	colon:	n/a	chr19:51976560-51976579 chr19:51976362-51976381
2	RAD21	chr19:51976141-51976596	MCF-7	breast:	n/a	chr19:51976560-51976579 chr19:51976362-51976381
3	RAD21	chr19:51976103-51976485	H1-hESC	embryonic stem cell:	n/a	chr19:51976362-51976381
4	RAD21	chr19:51976137-51976615	A549	lung:	n/a	chr19:51976560-51976579 chr19:51976362-51976381
5	POLR2A	chr19:51976134-51976290	K562	blood:	n/a	n/a
6	RAD21	chr19:51976141-51976625	MCF-7	breast:	n/a	chr19:51976560-51976579 chr19:51976362-51976381
7	CTCF	chr19:51975842-51976738	SK-N-SH	brain:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
8	IRF1	chr19:51975954-51976586	K562	blood:	n/a	n/a
9	CTCF	chr19:51976136-51976620	MCF-7	breast:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
10	SMC3	chr19:51975997-51976802	SK-N-SH	brain:	n/a	chr19:51976564-51976578 chr19:51976363-51976377 chr19:51976363-51976371
11	ZMIZ1	chr19:51975969-51976618	K562	blood:	n/a	n/a
12	RAD21	chr19:51976125-51976571	K562	blood:	n/a	chr19:51976362-51976381
13	SMC3	chr19:51976120-51976623	GM12878	blood:	n/a	chr19:51976564-51976578 chr19:51976363-51976377 chr19:51976363-51976371
14	CEBPB	chr19:51975763-51976401	K562	blood:	n/a	n/a
15	CTCF	chr19:51976050-51976707	K562	blood:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
16	CTCF	chr19:51975985-51976150	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr19:51976116-51976631	K562	blood:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
18	RAD21	chr19:51976142-51976587	GM12878	blood:	n/a	chr19:51976560-51976579 chr19:51976362-51976381
19	CTCF	chr19:51976148-51976586	GM12878	blood:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
20	CUX1	chr19:51975639-51976560	K562	blood:	n/a	n/a
21	CTCF	chr19:51976080-51976703	MCF-7	breast:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
22	MAFK	chr19:51975951-51976532	K562	blood:	n/a	n/a
23	REST	chr19:51976118-51976700	HL-60	blood:	n/a	n/a
24	RAD21	chr19:51975976-51976681	SK-N-SH	brain:	n/a	chr19:51976560-51976579 chr19:51976362-51976381
25	CTCF	chr19:51976100-51976587	HepG2	liver:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
26	RAD21	chr19:51976120-51976606	H1-hESC	embryonic stem cell:	n/a	chr19:51976560-51976579 chr19:51976362-51976381
27	CTCF	chr19:51975966-51976935	A549	lung:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
28	CTCF	chr19:51976079-51976745	HCT-116	colon:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
29	CTCF	chr19:51976141-51976577	IMR90	lung:	n/a	chr19:51976363-51976384 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377
30	CTCF	chr19:51976123-51976586	K562	blood:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
31	RAD21	chr19:51976018-51976679	HCT-116	colon:	n/a	chr19:51976560-51976579 chr19:51976362-51976381
32	CTCF	chr19:51976011-51976785	HCT-116	colon:	n/a	chr19:51976363-51976384 chr19:51976562-51976580 chr19:51976366-51976376 chr19:51976364-51976373 chr19:51976557-51976578 chr19:51976362-51976378 chr19:51976361-51976379 chr19:51976364-51976377 chr19:51976563-51976579
33	ZC3H11A	chr19:51976093-51976621	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51974430..51976310-chr19:52037889..52040847,2	K562	blood:
2	chr19:51976019..51976960-chr19:52110904..52111829,3	MCF-7	breast:
3	chr19:51975672..51976584-chr19:52164011..52164572,3	MCF-7	breast:
4	chr19:51975890..51976812-chr19:52159933..52160756,4	K562	blood:
5	chr19:51975913..51977254-chr19:52159906..52161263,12	MCF-7	breast:
6	chr19:51975937..51976795-chr19:52018276..52018797,2	MCF-7	breast:
7	chr19:51974505..51976487-chr19:52010911..52013199,2	K562	blood:
8	chr19:51975813..51976889-chr19:52140105..52142089,6	K562	blood:
9	chr19:51975902..51976858-chr19:52110641..52111904,7	K562	blood:
10	chr19:51975931..51976838-chr19:52160089..52160663,2	MCF-7	breast:
11	chr19:51975869..51976891-chr19:52110720..52111476,3	MCF-7	breast:
12	chr19:51868665..51871642-chr19:51973620..51976713,3	K562	blood:
13	chr19:51925342..51926122-chr19:51975926..51976809,2	K562	blood:
14	chr19:51976116..51976755-chr19:52018185..52018795,2	MCF-7	breast:

Variant related genes	Relation type
CEACAM18	TF binding region
SIGLEC26P	TF binding region
ENSG00000268520	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000269580	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55644823	1.00[AMR][1000 genomes]
rs7259174	1.00[AMR][1000 genomes]
rs73934345	1.00[AMR][1000 genomes]
rs73936012	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv961163	chr19:51971394-51976393	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51972600-51976400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:51975000-51976600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr19:51975800-51981600	Enhancers	Fetal Intestine Small	intestine
4	chr19:51975800-51981800	Enhancers	Fetal Intestine Large	intestine
5	chr19:51976000-51976400	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr19:51976000-51976800	Weak transcription	Gastric	stomach
7	chr19:51976000-51977400	Genic enhancers	K562	blood

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