Variant report

Variant	rs2571031
Chromosome Location	chr18:44577063-44577064
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	chr18:44576819-44577066	Spleen_OC	spleen:	n/a	chr18:44577006-44577014
2	CTCF	chr18:44576829-44577085	A549	lung:	n/a	chr18:44577006-44577014
3	CTCF	chr18:44576723-44577154	A549	lung:	n/a	chr18:44577006-44577014
4	STAT3	chr18:44576855-44577169	MCF10A-Er-Src	breast:	n/a	chr18:44577007-44577018
5	SMC3	chr18:44576756-44577140	Hela-S3	cervix:	n/a	chr18:44576941-44576955
6	SMC3	chr18:44576713-44577219	GM12878	blood:	n/a	chr18:44576941-44576955
7	CTCF	chr18:44576777-44577177	HepG2	liver:	n/a	chr18:44577006-44577014
8	RAD21	chr18:44576815-44577114	MCF-7	breast:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
9	CTCF	chr18:44576817-44577069	Hela-S3	cervix:	n/a	chr18:44577006-44577014
10	CTCF	chr18:44576572-44577542	SK-N-SH	brain:	n/a	chr18:44577006-44577014 chr18:44577525-44577538
11	RAD21	chr18:44576756-44577164	HepG2	liver:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
12	RAD21	chr18:44576697-44577164	MCF-7	breast:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
13	RAD21	chr18:44576757-44577173	Hela-S3	cervix:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
14	CTCF	chr18:44576797-44577099	HUVEC	blood vessel:	n/a	chr18:44577006-44577014
15	RAD21	chr18:44576815-44577117	SK-N-SH_RA	brain:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
16	CTCF	chr18:44576842-44577071	Gliobla	brain:	n/a	chr18:44577006-44577014
17	RAD21	chr18:44576744-44577158	SK-N-SH_RA	brain:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
18	CTCF	chr18:44576835-44577189	MCF-7	breast:	n/a	chr18:44577006-44577014
19	RAD21	chr18:44576721-44577115	H1-hESC	embryonic stem cell:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
20	CTCF	chr18:44576960-44577110	HVMF	connective:	n/a	chr18:44577006-44577014
21	SMC3	chr18:44576821-44577114	K562	blood:	n/a	chr18:44576941-44576955
22	SMC3	chr18:44576790-44577117	HepG2	liver:	n/a	chr18:44576941-44576955
23	MAFF	chr18:44576800-44577070	HepG2	liver:	n/a	chr18:44576911-44576925
24	CTCF	chr18:44576812-44577091	Medullo	brain:	n/a	chr18:44577006-44577014
25	RAD21	chr18:44576879-44577113	A549	lung:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
26	CTCF	chr18:44576742-44577180	K562	blood:	n/a	chr18:44577006-44577014
27	CTCF	chr18:44576832-44577111	SK-N-SH_RA	brain:	n/a	chr18:44577006-44577014
28	CTCF	chr18:44576826-44577117	K562	blood:	n/a	chr18:44577006-44577014
29	CTCF	chr18:44576738-44577146	GM12878	blood:	n/a	chr18:44577006-44577014
30	CTCF	chr18:44576793-44577131	H1-hESC	embryonic stem cell:	n/a	chr18:44577006-44577014
31	RAD21	chr18:44576784-44577154	H1-hESC	embryonic stem cell:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
32	CTCF	chr18:44576828-44577092	ECC-1	luminal epithelium:	n/a	chr18:44577006-44577014
33	BHLHE40	chr18:44576859-44577090	GM12878	blood:	n/a	n/a
34	CTCF	chr18:44576824-44577063	A549	lung:	n/a	chr18:44577006-44577014
35	BRCA1	chr18:44576815-44577084	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr18:44576784-44577064	HepG2	liver:	n/a	chr18:44577006-44577014
37	CTCF	chr18:44576920-44577070	HAc	cerebellar:	n/a	chr18:44577006-44577014
38	CTCF	chr18:44576648-44577327	HCT-116	colon:	n/a	chr18:44577006-44577014
39	ZNF143	chr18:44576777-44577120	GM12878	blood:	n/a	n/a
40	CTCF	chr18:44576786-44577065	A549	lung:	n/a	chr18:44577006-44577014
41	RAD21	chr18:44576616-44577284	HCT-116	colon:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
42	CTCF	chr18:44576450-44577357	A549	lung:	n/a	chr18:44577006-44577014
43	CTCF	chr18:44576750-44577134	IMR90	lung:	n/a	chr18:44577006-44577014
44	STAT3	chr18:44576868-44577340	MCF10A-Er-Src	breast:	n/a	chr18:44577007-44577018
45	ARID3A	chr18:44576810-44577094	HepG2	liver:	n/a	n/a
46	RAD21	chr18:44576768-44577152	IMR90	lung:	n/a	chr18:44576944-44576953 chr18:44576940-44576959
47	JUND	chr18:44576829-44577071	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr18:44576728-44577129	MCF-7	breast:	n/a	chr18:44577006-44577014
49	CUX1	chr18:44576787-44577144	K562	blood:	n/a	n/a
50	RAD21	chr18:44576695-44577219	HepG2	liver:	n/a	chr18:44576944-44576953 chr18:44576940-44576959

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: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12955429	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2060416	0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2060417	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2060418	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247221	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289036	0.87[CHB][hapmap]
rs2571018	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2571019	0.80[AMR][1000 genomes]
rs2571020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571021	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2571030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2571032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571033	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571034	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2576034	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2576035	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2576036	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2576037	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2576038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2576039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576041	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6507718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507719	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7233515	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8097455	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9960078	0.94[ASN][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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