Variant report

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:30564540-30564690	HEK293	kidney:	n/a	n/a
2	CTCF	chr2:30564548-30564611	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr2:30564520-30564670	HMEC	breast:	n/a	n/a
4	CTCF	chr2:30564515-30564624	HepG2	liver:	n/a	n/a
5	CTCF	chr2:30564460-30564610	AG10803	skin:	n/a	n/a
6	CTCF	chr2:30564518-30564637	LNCaP	prostate:	n/a	n/a
7	CTCF	chr2:30564506-30564622	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:30564540-30564690	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr2:30564480-30564630	GM12878	blood:	n/a	n/a
10	CTCF	chr2:30564500-30564650	A549	lung:	n/a	n/a
11	CTCF	chr2:30564560-30564710	RPTEC	kidney:	n/a	n/a
12	CTCF	chr2:30564480-30564630	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr2:30564500-30564650	HepG2	liver:	n/a	n/a
14	CTCF	chr2:30564449-30564765	MCF-7	breast:	n/a	n/a
15	RAD21	chr2:30564407-30564704	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr2:30564482-30564648	HepG2	liver:	n/a	n/a
17	CTCF	chr2:30564480-30564630	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:30564500-30564650	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:30564500-30564650	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr2:30564460-30564610	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr2:30564500-30564677	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:30564473-30564669	MCF-7	breast:	n/a	n/a
23	RAD21	chr2:30564395-30564714	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:30564499-30564629	MCF-7	breast:	n/a	n/a
25	CTCF	chr2:30564480-30564630	HPF	lung:	n/a	n/a
26	RAD21	chr2:30564349-30564871	HCT-116	colon:	n/a	n/a
27	CTCF	chr2:30564480-30564630	WERI-Rb-1	eye:	n/a	n/a
28	RAD21	chr2:30564451-30564718	HepG2	liver:	n/a	n/a
29	CTCF	chr2:30564509-30564611	ProgFib	skin:	n/a	n/a
30	CTCF	chr2:30564460-30564610	HCPEpiC	choroid plexus:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30431081..30431711-chr2:30564436..30565032,2	MCF-7	breast:
2	chr2:30558991..30561384-chr2:30562937..30565759,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235997	TF binding region

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10178205	0.87[AFR][1000 genomes]
rs4321410	0.82[AFR][1000 genomes]
rs4331554	0.82[AFR][1000 genomes]
rs4347879	0.82[AFR][1000 genomes]
rs6748302	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv2663	chr2:30522750-30567544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:30554200-30569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:30558000-30569400	Weak transcription	Esophagus	oesophagus
3	chr2:30559800-30566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:30560400-30569400	Weak transcription	Left Ventricle	heart
5	chr2:30560400-30569400	Weak transcription	Right Ventricle	heart
6	chr2:30560600-30565000	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:30561000-30569400	Weak transcription	Spleen	Spleen
8	chr2:30564400-30565200	Enhancers	Fetal Heart	heart
9	chr2:30564600-30564800	Enhancers	Primary B cells from cord blood	blood
10	chr2:30564600-30564800	Enhancers	Primary T cells from cord blood	blood
11	chr2:30564600-30564800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:30564600-30564800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:30564600-30564800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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