Variant report

Variant	rs34419497
Chromosome Location	chr2:73140851-73140852
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	chr2:73140760-73140910	GM06990	blood:	n/a	chr2:73140852-73140865
2	CTCF	chr2:73140780-73140930	WERI-Rb-1	eye:	n/a	chr2:73140852-73140865
3	CTCF	chr2:73140783-73140926	NHEK	skin:	n/a	chr2:73140852-73140865
4	CTCF	chr2:73140748-73140908	K562	blood:	n/a	chr2:73140852-73140865
5	CTCF	chr2:73140740-73140890	AoAF	blood vessel:	n/a	chr2:73140852-73140865
6	CTCF	chr2:73140771-73140950	MCF-7	breast:	n/a	chr2:73140852-73140865
7	CTCF	chr2:73140800-73140899	GM12892	blood:	n/a	chr2:73140852-73140865
8	CTCF	chr2:73140800-73140950	RPTEC	kidney:	n/a	chr2:73140852-73140865
9	CTCF	chr2:73140740-73140890	SK-N-SH_RA	brain:	n/a	chr2:73140852-73140865
10	CTCF	chr2:73140820-73140970	HPF	lung:	n/a	chr2:73140852-73140865
11	CTCF	chr2:73140800-73140950	HRE	kidney:	n/a	chr2:73140852-73140865
12	CTCF	chr2:73140768-73140956	MCF-7	breast:	n/a	chr2:73140852-73140865
13	CTCF	chr2:73140760-73140910	HMEC	breast:	n/a	chr2:73140852-73140865
14	CTCF	chr2:73140780-73140930	Caco-2	colon:	n/a	chr2:73140852-73140865
15	CTCF	chr2:73140800-73140950	HUVEC	blood vessel:	n/a	chr2:73140852-73140865
16	CTCF	chr2:73140780-73140930	HRE	kidney:	n/a	chr2:73140852-73140865
17	CTCF	chr2:73140790-73140923	Hela-S3	cervix:	n/a	chr2:73140852-73140865
18	CTCF	chr2:73140800-73140950	HEK293	kidney:	n/a	chr2:73140852-73140865
19	CTCF	chr2:73140780-73140930	HMF	breast:	n/a	chr2:73140852-73140865
20	CTCF	chr2:73140740-73140890	A549	lung:	n/a	chr2:73140852-73140865
21	CTCF	chr2:73140820-73140970	HEEpiC	esophagus:	n/a	chr2:73140852-73140865
22	CTCF	chr2:73140800-73140950	A549	lung:	n/a	chr2:73140852-73140865
23	CTCF	chr2:73140813-73140908	K562	blood:	n/a	chr2:73140852-73140865
24	RAD21	chr2:73140694-73141000	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr2:73140777-73140955	GM19239	blood:	n/a	chr2:73140852-73140865
26	CTCF	chr2:73140720-73140870	GM12874	blood:	n/a	chr2:73140852-73140865
27	CTCF	chr2:73140740-73140890	HMEC	breast:	n/a	chr2:73140852-73140865
28	CTCF	chr2:73140807-73140885	Kidney_OC	kidney:	n/a	chr2:73140852-73140865
29	CTCF	chr2:73140729-73140991	GM12878	blood:	n/a	chr2:73140852-73140865
30	CTCF	chr2:73140800-73140950	AG04449	skin:	n/a	chr2:73140852-73140865
31	CTCF	chr2:73140780-73140930	HCM	heart:	n/a	chr2:73140852-73140865
32	CTCF	chr2:73140740-73140890	AG04450	lung:	n/a	chr2:73140852-73140865
33	CTCF	chr2:73140720-73140870	HA-sp	spinal cord:	n/a	chr2:73140852-73140865
34	CTCF	chr2:73140760-73140910	WERI-Rb-1	eye:	n/a	chr2:73140852-73140865
35	CTCF	chr2:73140800-73140950	HCFaa	heart:	n/a	chr2:73140852-73140865
36	CTCF	chr2:73140760-73140910	HPF	lung:	n/a	chr2:73140852-73140865
37	CTCF	chr2:73140800-73140950	HCPEpiC	choroid plexus:	n/a	chr2:73140852-73140865
38	CTCF	chr2:73140806-73140923	Gliobla	brain:	n/a	chr2:73140852-73140865
39	CTCF	chr2:73140793-73140872	HUVEC	blood vessel:	n/a	chr2:73140852-73140865
40	CTCF	chr2:73140840-73140990	GM12878	blood:	n/a	chr2:73140852-73140865
41	CTCF	chr2:73140800-73140950	HCT-116	colon:	n/a	chr2:73140852-73140865
42	CTCF	chr2:73140780-73140930	MCF-7	breast:	n/a	chr2:73140852-73140865
43	CTCF	chr2:73140749-73140962	MCF-7	breast:	n/a	chr2:73140852-73140865
44	CTCF	chr2:73140740-73140890	HRPEpiC	eye:	n/a	chr2:73140852-73140865
45	CTCF	chr2:73140740-73140890	HEK293	kidney:	n/a	chr2:73140852-73140865
46	CTCF	chr2:73140764-73140952	A549	lung:	n/a	chr2:73140852-73140865
47	CTCF	chr2:73140786-73140917	HepG2	liver:	n/a	chr2:73140852-73140865
48	CTCF	chr2:73140720-73140870	AG10803	skin:	n/a	chr2:73140852-73140865
49	CTCF	chr2:73140760-73140910	HBMEC	blood vessel:	n/a	chr2:73140852-73140865
50	SUZ12	chr2:73140765-73141206	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73133787..73135373-chr2:73138346..73141336,2	MCF-7	breast:
2	chr2:73135089..73137137-chr2:73140069..73142394,2	K562	blood:
3	chr2:73132001..73134363-chr2:73139105..73140981,2	K562	blood:
4	chr2:73113887..73116277-chr2:73139179..73142024,2	MCF-7	breast:
5	chr2:73140309..73140884-chr2:73161581..73162525,2	MCF-7	breast:

Variant related genes	Relation type
EMX1	TF binding region
ENSG00000116096	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10185826	0.97[ASN][1000 genomes]
rs12473812	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008495	0.85[ASN][1000 genomes]
rs1898442	1.00[ASN][1000 genomes]
rs2077586	0.85[ASN][1000 genomes]
rs56986198	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746212	0.88[ASN][1000 genomes]
rs999494	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73140200-73141800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
2	chr2:73140200-73141800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:73140400-73141800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr2:73140400-73141800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr2:73140400-73141800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr2:73140400-73142000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr2:73140400-73142200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:73140400-73142200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr2:73140600-73141400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:73140600-73141800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr2:73140800-73141000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr2:73140800-73142400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:73140800-73142600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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