Variant report

Variant	rs12464542
Chromosome Location	chr2:233893871-233893872
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:233893644-233893882	LNCaP	prostate:	n/a	n/a
2	CTCF	chr2:233893320-233893914	HCT-116	colon:	n/a	n/a
3	CTCF	chr2:233893653-233893905	GM19238	blood:	n/a	n/a
4	RAD21	chr2:233893425-233893905	A549	lung:	n/a	n/a
5	RAD21	chr2:233893318-233893918	HCT-116	colon:	n/a	n/a
6	CEBPB	chr2:233893637-233894004	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:233893680-233893877	NHEK	skin:	n/a	n/a
8	SMC3	chr2:233893572-233893956	Hela-S3	cervix:	n/a	n/a
9	RAD21	chr2:233893577-233893891	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr2:233893575-233893936	A549	lung:	n/a	n/a
11	CTCF	chr2:233893676-233893885	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:233893620-233893891	Pancreas_OC	pancreas:	n/a	n/a
13	RAD21	chr2:233893584-233893980	Hela-S3	cervix:	n/a	n/a
14	TCF12	chr2:233893435-233893963	A549	lung:	n/a	n/a
15	CTCF	chr2:233893664-233893887	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:233893583-233893929	IMR90	lung:	n/a	n/a
17	SMC3	chr2:233893563-233893951	GM12878	blood:	n/a	n/a
18	CTCF	chr2:233893620-233893875	GM10266	blood:	n/a	n/a
19	CTCF	chr2:233893392-233894106	A549	lung:	n/a	n/a
20	CTCF	chr2:233893653-233893889	GM12891	blood:	n/a	n/a
21	CEBPB	chr2:233893723-233893972	HepG2	liver:	n/a	n/a
22	RAD21	chr2:233893576-233893939	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr2:233893451-233893899	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chr2:233893602-233893929	GM12878	blood:	n/a	n/a
25	CTCF	chr2:233893644-233893896	GM13977	blood:	n/a	n/a
26	CTCF	chr2:233893640-233893883	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr2:233893648-233893883	HepG2	liver:	n/a	n/a
28	RAD21	chr2:233893542-233893875	SK-N-SH_RA	brain:	n/a	n/a
29	RAD21	chr2:233893463-233893902	A549	lung:	n/a	n/a
30	CTCF	chr2:233893632-233893872	Medullo	brain:	n/a	n/a
31	CEBPB	chr2:233893741-233893958	IMR90	lung:	n/a	n/a
32	SMC3	chr2:233893445-233893895	SK-N-SH	brain:	n/a	n/a
33	RAD21	chr2:233893513-233893874	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr2:233893664-233893877	A549	lung:	n/a	n/a
35	CEBPB	chr2:233893721-233893891	MCF-7	breast:	n/a	n/a
36	FOS	chr2:233893713-233893896	MCF10A-Er-Src	breast:	n/a	n/a
37	TEAD4	chr2:233893596-233893924	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr2:233893600-233893895	A549	lung:	n/a	n/a
39	CEBPB	chr2:233893671-233894000	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr2:233893639-233893893	GM12878	blood:	n/a	n/a
41	TCF12	chr2:233893616-233893891	HepG2	liver:	n/a	n/a
42	RAD21	chr2:233893489-233893916	MCF-7	breast:	n/a	n/a
43	RAD21	chr2:233893349-233893908	HCT-116	colon:	n/a	n/a
44	CTCF	chr2:233893647-233893890	GM12892	blood:	n/a	n/a
45	CEBPB	chr2:233893620-233893993	A549	lung:	n/a	n/a
46	CTCF	chr2:233893555-233893882	MCF-7	breast:	n/a	n/a
47	RAD21	chr2:233893498-233893877	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:233893526-233893878	A549	lung:	n/a	n/a
49	RAD21	chr2:233893597-233893933	GM12878	blood:	n/a	n/a
50	CEBPB	chr2:233893699-233893991	K562	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233889201..233890711-chr2:233892270..233894310,2	MCF-7	breast:

No data

Variant related genes	Relation type
NEU2	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62193985	0.88[EUR][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	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876011	chr2:233809244-233912755	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233864400-233902800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233888400-233900200	Weak transcription	Esophagus	oesophagus
3	chr2:233888800-233896200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:233891600-233896200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:233891600-233896400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:233891600-233898200	Weak transcription	NH-A	brain
7	chr2:233891600-233900200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:233891800-233894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:233891800-233894000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:233891800-233896600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:233891800-233897000	Weak transcription	Osteobl	bone
12	chr2:233891800-233897200	Weak transcription	HMEC	breast
13	chr2:233892000-233898000	Weak transcription	NHEK	skin
14	chr2:233893000-233894000	Enhancers	Hela-S3	cervix
15	chr2:233893800-233894800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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