Variant report

Variant	rs200123132
Chromosome Location	chr1:144094787-144094788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:144094740-144094890	WERI-Rb-1	eye:	n/a	n/a
2	CTCF	chr1:144094760-144094910	BE2_C	brain:	n/a	n/a
3	CTCF	chr1:144094634-144095143	A549	lung:	n/a	n/a
4	CTCF	chr1:144094740-144094890	AG04450	lung:	n/a	n/a
5	CTCF	chr1:144094760-144094910	GM12878	blood:	n/a	n/a
6	CTCF	chr1:144094745-144095021	GM12878	blood:	n/a	n/a
7	CTCF	chr1:144094740-144094890	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr1:144094740-144094890	AG09309	skin:	n/a	n/a
9	CTCF	chr1:144094740-144094890	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr1:144094620-144094910	NHDF-neo	bronchial:	n/a	n/a
11	CTCF	chr1:144094757-144094971	GM13976	blood:	n/a	n/a
12	CTCF	chr1:144094740-144094890	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr1:144094620-144094910	HAc	cerebellar:	n/a	n/a
14	CTCF	chr1:144094740-144094890	HPF	lung:	n/a	n/a
15	CTCF	chr1:144094740-144094890	HCFaa	heart:	n/a	n/a
16	CTCF	chr1:144094740-144094890	GM12865	blood:	n/a	n/a
17	IRF4	chr1:144094611-144095198	GM12878	blood:	n/a	n/a
18	POU2F2	chr1:144094351-144095277	GM12878	blood:	n/a	n/a
19	CTCF	chr1:144094776-144094969	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr1:144094760-144094910	GM12867	blood:	n/a	n/a
21	CTCF	chr1:144094764-144095011	HepG2	liver:	n/a	n/a
22	CTCF	chr1:144094760-144094910	HVMF	connective:	n/a	n/a
23	CTCF	chr1:144094760-144094910	GM12869	blood:	n/a	n/a
24	CTCF	chr1:144094782-144094956	GM20000	blood:	n/a	n/a
25	CTCF	chr1:144094740-144094890	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr1:144094690-144094984	K562	blood:	n/a	n/a
27	CTCF	chr1:144094740-144094890	BJ	skin:	n/a	n/a
28	CTCF	chr1:144094740-144094890	AG04449	skin:	n/a	n/a
29	IRF4	chr1:144094551-144095269	GM12878	blood:	n/a	n/a
30	CTCF	chr1:144094740-144095054	A549	lung:	n/a	n/a
31	CTCF	chr1:144094760-144094910	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:144094742-144094991	GM13977	blood:	n/a	n/a
33	CTCF	chr1:144094760-144094910	GM12870	blood:	n/a	n/a
34	CTCF	chr1:144094740-144094890	GM12874	blood:	n/a	n/a
35	CTCF	chr1:144094740-144094890	AG10803	skin:	n/a	n/a
36	CTCF	chr1:144094720-144094870	GM06990	blood:	n/a	n/a
37	CTCF	chr1:144094760-144094910	AG04450	lung:	n/a	n/a
38	CTCF	chr1:144094740-144094890	HEK293	kidney:	n/a	n/a
39	CTCF	chr1:144094740-144094890	GM12864	blood:	n/a	n/a
40	CTCF	chr1:144094740-144094890	K562	blood:	n/a	n/a
41	CTCF	chr1:144094589-144095121	K562	blood:	n/a	n/a
42	FOSL2	chr1:144094724-144095067	HepG2	liver:	n/a	n/a
43	CTCF	chr1:144094740-144094890	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr1:144094760-144094910	HCT-116	colon:	n/a	n/a
45	CTCF	chr1:144094787-144094966	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:144094640-144094790	HCM	heart:	n/a	n/a
47	CTCF	chr1:144094755-144094973	LNCaP	prostate:	n/a	n/a
48	CTCF	chr1:144094760-144094910	GM12871	blood:	n/a	n/a
49	CTCF	chr1:144094740-144094890	GM12875	blood:	n/a	n/a
50	CTCF	chr1:144094760-144094910	GM12866	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000224363	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv946222	chr1:144007818-144095783	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1826056	chr1:144007818-144275745	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1003536	chr1:144007818-144337917	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1008597	chr1:144007818-144337917	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1005946	chr1:144007818-144471989	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1003583	chr1:144007818-144543442	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
7	nsv1002681	chr1:144007818-144560590	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
8	nsv1012104	chr1:144007818-144682096	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	260 gene(s)	inside rSNPs	diseases
9	nsv1006330	chr1:144007818-144849544	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	262 gene(s)	inside rSNPs	diseases
10	nsv1001989	chr1:144007818-144873327	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
11	nsv997949	chr1:144007818-144876884	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
12	nsv1010670	chr1:144007818-144880405	Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
13	nsv1010163	chr1:144007818-144884322	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
14	nsv1014985	chr1:144007818-144949963	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
15	nsv1000552	chr1:144008574-144471989	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1002373	chr1:144013582-144682096	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	258 gene(s)	inside rSNPs	diseases
17	nsv1011338	chr1:144015838-144337917	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
18	nsv1004765	chr1:144015838-144471989	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv1007748	chr1:144015838-144682096	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	258 gene(s)	inside rSNPs	diseases
20	nsv997876	chr1:144033939-144538748	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
21	nsv524682	chr1:144034888-144617179	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
22	nsv997678	chr1:144036737-144337917	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
23	esv1823205	chr1:144036737-144471989	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
24	nsv1007246	chr1:144036737-144560590	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
25	nsv1006612	chr1:144050098-144560590	Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
26	esv10412	chr1:144089771-144095745	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
27	esv10881	chr1:144093088-144095745	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
28	esv1831165	chr1:144094693-144520821	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
29	esv1831653	chr1:144094693-144520821	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144057600-144096800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:144088800-144096800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:144093400-144095000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:144094400-144095600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:144094600-144094800	Enhancers	HUVEC	blood vessel
6	chr1:144094600-144095000	Enhancers	Primary B cells from peripheral blood	blood

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