Variant report

Variant	rs368195994
Chromosome Location	chr15:45402590-45402591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:45402520-45402670	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr15:45402560-45402710	GM12872	blood:	n/a	n/a
3	CTCF	chr15:45402540-45402690	AG04449	skin:	n/a	n/a
4	CTCF	chr15:45402589-45402665	GM10266	blood:	n/a	n/a
5	CTCF	chr15:45402540-45402690	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr15:45402560-45402710	HCT-116	colon:	n/a	n/a
7	CTCF	chr15:45402580-45402730	BE2_C	brain:	n/a	n/a
8	CTCF	chr15:45402560-45402710	HMF	breast:	n/a	n/a
9	CTCF	chr15:45402560-45402710	NB4	blood:	n/a	n/a
10	CTCF	chr15:45402560-45402710	A549	lung:	n/a	n/a
11	CTCF	chr15:45402580-45402730	GM12865	blood:	n/a	n/a
12	CTCF	chr15:45402520-45402670	GM12869	blood:	n/a	n/a
13	CTCF	chr15:45402480-45402630	HA-sp	spinal cord:	n/a	n/a
14	CTCF	chr15:45402556-45402693	GM13977	blood:	n/a	n/a
15	CTCF	chr15:45402520-45402670	HepG2	liver:	n/a	n/a
16	CTCF	chr15:45402550-45402672	K562	blood:	n/a	n/a
17	CTCF	chr15:45402520-45402670	HEK293	kidney:	n/a	n/a
18	CTCF	chr15:45402540-45402690	GM12872	blood:	n/a	n/a
19	CTCF	chr15:45402520-45402670	HPF	lung:	n/a	n/a
20	CTCF	chr15:45402500-45402650	GM12865	blood:	n/a	n/a
21	CTCF	chr15:45402540-45402690	GM12864	blood:	n/a	n/a
22	CTCF	chr15:45402560-45402710	GM12869	blood:	n/a	n/a
23	CTCF	chr15:45402540-45402690	HMEC	breast:	n/a	n/a
24	CTCF	chr15:45402500-45402650	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr15:45402567-45402737	A549	lung:	n/a	n/a
26	CTCF	chr15:45402540-45402741	GM12878	blood:	n/a	n/a
27	CTCF	chr15:45402560-45402710	HPAF	blood vessel:	n/a	n/a
28	RAD21	chr15:45402382-45402852	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr15:45402562-45402751	GM12891	blood:	n/a	n/a
30	CTCF	chr15:45402520-45402670	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr15:45402560-45402710	HL-60	blood:	n/a	n/a
32	CTCF	chr15:45402500-45402650	AG09319	gingival:	n/a	n/a
33	CTCF	chr15:45402540-45402690	BE2_C	brain:	n/a	n/a
34	CTCF	chr15:45402540-45402690	GM12871	blood:	n/a	n/a
35	CTCF	chr15:45402540-45402690	GM06990	blood:	n/a	n/a
36	CTCF	chr15:45402520-45402670	HAc	cerebellar:	n/a	n/a
37	CTCF	chr15:45402460-45402750	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr15:45402558-45402700	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr15:45402540-45402690	AG09319	gingival:	n/a	n/a
40	CTCF	chr15:45402576-45402731	GM19240	blood:	n/a	n/a
41	CTCF	chr15:45402560-45402710	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr15:45402557-45402737	GM19238	blood:	n/a	n/a
43	CTCF	chr15:45402480-45402630	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr15:45402529-45402723	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr15:45402580-45402730	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr15:45402560-45402710	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr15:45402480-45402630	GM12868	blood:	n/a	n/a
48	CTCF	chr15:45402560-45402710	GM12864	blood:	n/a	n/a
49	CTCF	chr15:45402500-45402650	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr15:45402540-45402690	HVMF	connective:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45402172..45404057-chr15:45407808..45410481,2	MCF-7	breast:
2	chr15:45380073..45381960-chr15:45400521..45403354,2	K562	blood:

No data

Variant related genes	Relation type
DUOXA2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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
5	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv904185	chr15:45394406-45428390	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv904186	chr15:45394406-45434493	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
12	esv3345210	chr15:45402360-45405508	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45381400-45404600	Weak transcription	Right Atrium	heart
2	chr15:45402200-45402800	Enhancers	Gastric	stomach
3	chr15:45402400-45403200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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