Variant report

Variant	rs2114212
Chromosome Location	chr8:95604859-95604860
allele	A/C
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	chr8:95604606-95604920	MCF-7	breast:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
2	CTCF	chr8:95604603-95605106	MCF-7	breast:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
3	RAD21	chr8:95604587-95604887	ECC-1	luminal epithelium:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
4	RAD21	chr8:95604561-95604917	Hela-S3	cervix:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
5	RAD21	chr8:95604560-95604924	H1-hESC	embryonic stem cell:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
6	SMC3	chr8:95604576-95604878	HepG2	liver:	n/a	chr8:95604709-95604716 chr8:95604709-95604723
7	CTCF	chr8:95604760-95604910	HAc	cerebellar:	n/a	n/a
8	YY1	chr8:95604623-95604874	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr8:95604612-95604859	A549	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
10	RAD21	chr8:95604505-95605045	HCT-116	colon:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
11	MAZ	chr8:95604575-95604870	K562	blood:	n/a	n/a
12	RAD21	chr8:95604566-95604880	GM12878	blood:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
13	JUND	chr8:95604729-95604931	HepG2	liver:	n/a	n/a
14	CTCF	chr8:95604517-95604930	T-47D	breast:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
15	CTCF	chr8:95604509-95605181	HCT-116	colon:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
16	CTCF	chr8:95604513-95605048	MCF-7	breast:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
17	RAD21	chr8:95604608-95604938	A549	lung:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
18	CTCF	chr8:95604583-95604897	H1-hESC	embryonic stem cell:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
19	CTCF	chr8:95604720-95604870	WI-38	lung:	n/a	n/a
20	RAD21	chr8:95604613-95604903	HepG2	liver:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
21	RAD21	chr8:95604567-95604974	MCF-7	breast:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
22	SMC3	chr8:95604533-95605155	SK-N-SH	brain:	n/a	chr8:95604709-95604716 chr8:95604709-95604723
23	RAD21	chr8:95604584-95604874	SK-N-SH_RA	brain:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
24	CTCF	chr8:95604436-95604943	K562	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
25	ZNF143	chr8:95604572-95604868	K562	blood:	n/a	n/a
26	CTCF	chr8:95604616-95604867	ECC-1	luminal epithelium:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
27	CTCF	chr8:95604589-95604884	H1-hESC	embryonic stem cell:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
28	CTCF	chr8:95604578-95605080	SK-N-SH	brain:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
29	RAD21	chr8:95604547-95604898	H1-hESC	embryonic stem cell:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
30	CTCF	chr8:95604554-95605186	A549	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
31	CTCF	chr8:95604600-95604865	Gliobla	brain:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
32	CTCF	chr8:95604580-95604905	K562	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
33	RAD21	chr8:95604537-95604978	SK-N-SH	brain:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
34	CTCF	chr8:95604566-95605108	HCT-116	colon:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
35	ZNF143	chr8:95604565-95604872	GM12878	blood:	n/a	n/a
36	CTCF	chr8:95604579-95604966	K562	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
37	RAD21	chr8:95604616-95604924	ECC-1	luminal epithelium:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
38	CTCF	chr8:95604607-95604889	T-47D	breast:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
39	SMC3	chr8:95604549-95604902	GM12878	blood:	n/a	chr8:95604709-95604716 chr8:95604709-95604723
40	RAD21	chr8:95604610-95604947	A549	lung:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
41	CTCF	chr8:95604516-95604914	K562	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
42	CTCF	chr8:95604596-95604883	A549	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
43	ZNF143	chr8:95604598-95604883	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr8:95604525-95604928	HepG2	liver:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
45	RAD21	chr8:95604578-95605109	HCT-116	colon:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
46	RAD21	chr8:95604651-95604860	HepG2	liver:	n/a	chr8:95604753-95604763 chr8:95604709-95604723 chr8:95604708-95604727
47	SMC3	chr8:95604545-95604878	Hela-S3	cervix:	n/a	chr8:95604709-95604716 chr8:95604709-95604723
48	CTCF	chr8:95604577-95604870	A549	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
49	CTCF	chr8:95604526-95604887	IMR90	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
50	CTCF	chr8:95604518-95604914	GM12878	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723

No.	Distal block	Cell Line	Cell type
1	chr8:95604279..95604876-chr8:95624972..95625755,2	MCF-7	breast:
2	chr8:95604766..95607186-chr8:95653718..95656477,2	MCF-7	breast:
3	chr8:95604280..95605218-chr8:95654234..95655141,4	MCF-7	breast:
4	chr8:95603957..95608238-chr8:95651708..95655027,4	MCF-7	breast:
5	chr8:95603445..95604962-chr8:95650191..95651732,2	MCF-7	breast:
6	chr8:95604274..95605200-chr8:95725698..95726286,2	MCF-7	breast:
7	chr8:95604246..95605617-chr8:95725348..95726635,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254283	TF binding region
ENSG00000199701	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000261437	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1055800	0.83[CHB][hapmap]
rs11993470	0.81[ASN][1000 genomes]
rs12541408	0.83[CHB][hapmap]
rs12549596	0.96[ASN][1000 genomes]
rs12679345	0.83[CHB][hapmap]
rs12679785	1.00[ASN][1000 genomes]
rs12680418	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]
rs12680842	0.83[CHB][hapmap]
rs13258635	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1426172	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1808488	0.96[ASN][1000 genomes]
rs1984711	0.96[ASN][1000 genomes]
rs1992370	0.83[CHB][hapmap]
rs2381829	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2381882	0.83[CHB][hapmap]
rs3133615	0.81[ASN][1000 genomes]
rs34471170	0.96[ASN][1000 genomes]
rs4734282	0.96[ASN][1000 genomes]
rs4734283	0.80[CHD][hapmap]
rs4735300	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735302	0.96[ASN][1000 genomes]
rs72674881	0.96[ASN][1000 genomes]
rs957447	0.83[CHB][hapmap]
rs957448	0.83[CHB][hapmap]
rs9642927	0.96[ASN][1000 genomes]
rs9642928	0.96[ASN][1000 genomes]
rs9643346	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv520435	chr8:95598598-95608367	Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3350182	chr8:95601526-95604924	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2114212	PLEKHF2	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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