Variant report

Variant	rs2246877
Chromosome Location	chr18:44577005-44577006
allele	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	CTCF	chr18:44576903-44577010	GM19240	blood:	n/a	n/a
2	ZNF143	chr18:44576808-44577008	K562	blood:	n/a	n/a
3	CTCF	chr18:44576861-44577050	MCF-7	breast:	n/a	chr18:44577006-44577014
4	CTCF	chr18:44576819-44577066	Spleen_OC	spleen:	n/a	chr18:44577006-44577014
5	CTCF	chr18:44576829-44577085	A549	lung:	n/a	chr18:44577006-44577014
6	CTCF	chr18:44576824-44577041	Kidney_OC	kidney:	n/a	chr18:44577006-44577014
7	CTCF	chr18:44576880-44577030	HMEC	breast:	n/a	chr18:44577006-44577014
8	CTCF	chr18:44576880-44577030	HRE	kidney:	n/a	chr18:44577006-44577014
9	CTCF	chr18:44576723-44577154	A549	lung:	n/a	chr18:44577006-44577014
10	CTCF	chr18:44576880-44577030	GM12873	blood:	n/a	chr18:44577006-44577014
11	STAT3	chr18:44576855-44577169	MCF10A-Er-Src	breast:	n/a	chr18:44577007-44577018
12	CTCF	chr18:44576824-44577056	K562	blood:	n/a	chr18:44577006-44577014
13	CTCF	chr18:44576861-44577025	GM13976	blood:	n/a	chr18:44577006-44577014
14	SMC3	chr18:44576756-44577140	Hela-S3	cervix:	n/a	chr18:44576941-44576955
15	CTCF	chr18:44576860-44577010	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr18:44576860-44577010	HEK293	kidney:	n/a	n/a
17	CTCF	chr18:44576838-44577058	HepG2	liver:	n/a	chr18:44577006-44577014
18	SMC3	chr18:44576713-44577219	GM12878	blood:	n/a	chr18:44576941-44576955
19	CTCF	chr18:44576900-44577050	NHEK	skin:	n/a	chr18:44577006-44577014
20	CTCF	chr18:44576900-44577050	SAEC	small airway:	n/a	chr18:44577006-44577014
21	EBF1	chr18:44576875-44577020	GM12878	blood:	n/a	n/a
22	CTCF	chr18:44576777-44577177	HepG2	liver:	n/a	chr18:44577006-44577014
23	CTCF	chr18:44576880-44577030	GM12866	blood:	n/a	chr18:44577006-44577014
24	RAD21	chr18:44576815-44577114	MCF-7	breast:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
25	CTCF	chr18:44576817-44577069	Hela-S3	cervix:	n/a	chr18:44577006-44577014
26	CTCF	chr18:44576880-44577030	AoAF	blood vessel:	n/a	chr18:44577006-44577014
27	CTCF	chr18:44576572-44577542	SK-N-SH	brain:	n/a	chr18:44577006-44577014 chr18:44577525-44577538
28	RAD21	chr18:44576756-44577164	HepG2	liver:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
29	RAD21	chr18:44576697-44577164	MCF-7	breast:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
30	RAD21	chr18:44576757-44577173	Hela-S3	cervix:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
31	CTCF	chr18:44576860-44577010	GM12874	blood:	n/a	n/a
32	CTCF	chr18:44576880-44577030	GM12872	blood:	n/a	chr18:44577006-44577014
33	CTCF	chr18:44576797-44577099	HUVEC	blood vessel:	n/a	chr18:44577006-44577014
34	CTCF	chr18:44576819-44577057	GM13977	blood:	n/a	chr18:44577006-44577014
35	CTCF	chr18:44576860-44577010	HepG2	liver:	n/a	n/a
36	CTCF	chr18:44576860-44577010	AG10803	skin:	n/a	n/a
37	CTCF	chr18:44576860-44577010	GM12865	blood:	n/a	n/a
38	RAD21	chr18:44576815-44577117	SK-N-SH_RA	brain:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
39	CTCF	chr18:44576900-44577050	HEEpiC	esophagus:	n/a	chr18:44577006-44577014
40	MAX	chr18:44576814-44577055	GM12878	blood:	n/a	n/a
41	CTCF	chr18:44576880-44577030	HMF	breast:	n/a	chr18:44577006-44577014
42	CTCF	chr18:44576842-44577071	Gliobla	brain:	n/a	chr18:44577006-44577014
43	RAD21	chr18:44576744-44577158	SK-N-SH_RA	brain:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
44	CTCF	chr18:44576835-44577189	MCF-7	breast:	n/a	chr18:44577006-44577014
45	RAD21	chr18:44576721-44577115	H1-hESC	embryonic stem cell:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
46	JUND	chr18:44576860-44577032	K562	blood:	n/a	n/a
47	CTCF	chr18:44576860-44577010	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr18:44576872-44577030	MCF-7	breast:	n/a	chr18:44577006-44577014
49	CTCF	chr18:44576839-44577029	SK-N-SH_RA	brain:	n/a	chr18:44577006-44577014
50	CTCF	chr18:44576960-44577110	HVMF	connective:	n/a	chr18:44577006-44577014

No.	Distal block	Cell Line	Cell type
1	chr18:44576766..44577535-chr18:44731006..44731680,3	K562	blood:
2	chr18:44576733..44577369-chr18:44809595..44810437,2	K562	blood:
3	chr18:44576795..44577462-chr18:44731213..44731981,2	MCF-7	breast:
4	chr18:44576380..44577341-chr18:45275241..45276255,4	K562	blood:

Variant related genes	Relation type
KATNAL2	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12955429	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2060417	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2247221	0.81[JPT][hapmap]
rs2571034	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2576035	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2576037	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4986228	0.87[CHB][hapmap]
rs7233515	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8097455	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs9960078	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1056744	chr18:44509052-44581752	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv1805582	chr18:44542384-44577288	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv2282	chr18:44547638-44590333	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv909610	chr18:44549455-44602249	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv909611	chr18:44560875-44614090	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1057235	chr18:44564162-44595809	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1067278	chr18:44564162-44629283	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44577000-44577400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr18:44577000-44577400	Enhancers	Brain Angular Gyrus	brain
3	chr18:44577000-44577400	Enhancers	Brain Inferior Temporal Lobe	brain

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