Variant report

Variant	rs561962153
Chromosome Location	chr2:133669707-133669708
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	chr2:133669640-133669790	HMEC	breast:	n/a	n/a
2	RAD21	chr2:133669543-133669938	H1-hESC	embryonic stem cell:	n/a	chr2:133669692-133669705
3	CTCF	chr2:133669672-133669786	SK-N-SH_RA	brain:	n/a	n/a
4	RAD21	chr2:133669560-133669923	MCF-7	breast:	n/a	chr2:133669692-133669705
5	CTCF	chr2:133669676-133669828	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:133669640-133669790	BJ	skin:	n/a	n/a
7	CTCF	chr2:133669680-133669830	NHEK	skin:	n/a	n/a
8	CTCF	chr2:133669686-133669786	GM19239	blood:	n/a	n/a
9	CTCF	chr2:133669680-133669830	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr2:133669620-133669770	RPTEC	kidney:	n/a	n/a
11	CTCF	chr2:133669670-133669820	SK-N-SH_RA	brain:	n/a	n/a
12	RAD21	chr2:133669595-133669805	HepG2	liver:	n/a	chr2:133669692-133669705
13	CTCF	chr2:133669680-133669830	Caco-2	colon:	n/a	n/a
14	CTCF	chr2:133669620-133669770	HAc	cerebellar:	n/a	n/a
15	CTCF	chr2:133669620-133669770	HepG2	liver:	n/a	n/a
16	CTCF	chr2:133669620-133669770	HVMF	connective:	n/a	n/a
17	CTCF	chr2:133669700-133669850	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr2:133669700-133669850	AG09319	gingival:	n/a	n/a
19	CTCF	chr2:133669700-133669850	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr2:133669660-133669810	Caco-2	colon:	n/a	n/a
21	CTCF	chr2:133669700-133669850	HEK293	kidney:	n/a	n/a
22	CTCF	chr2:133669680-133669830	AG04449	skin:	n/a	n/a
23	CTCF	chr2:133669683-133669771	GM19240	blood:	n/a	n/a
24	RAD21	chr2:133669620-133669911	IMR90	lung:	n/a	chr2:133669692-133669705
25	CTCF	chr2:133669680-133669830	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr2:133669600-133669750	HCM	heart:	n/a	n/a
27	CTCF	chr2:133669640-133669790	AG09309	skin:	n/a	n/a
28	CTCF	chr2:133669600-133669750	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr2:133669660-133669810	HA-sp	spinal cord:	n/a	n/a
30	RAD21	chr2:133669302-133669902	SK-N-SH_RA	brain:	n/a	chr2:133669692-133669705
31	CTCF	chr2:133669674-133669847	GM19238	blood:	n/a	n/a
32	CTCF	chr2:133669700-133669850	GM12872	blood:	n/a	n/a
33	CTCF	chr2:133669660-133669810	GM12874	blood:	n/a	n/a
34	CTCF	chr2:133669660-133669810	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr2:133669660-133669810	AG09319	gingival:	n/a	n/a
36	CTCF	chr2:133669668-133669854	MCF-7	breast:	n/a	n/a
37	RAD21	chr2:133669440-133669968	H1-hESC	embryonic stem cell:	n/a	chr2:133669692-133669705
38	CTCF	chr2:133669651-133669855	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:133669676-133669834	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:133669660-133669810	GM12865	blood:	n/a	n/a
41	CTCF	chr2:133669530-133669869	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr2:133669661-133669862	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr2:133669640-133669790	HUVEC	blood vessel:	n/a	n/a
44	RAD21	chr2:133669632-133669823	HepG2	liver:	n/a	chr2:133669692-133669705
45	CTCF	chr2:133669678-133669834	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:133669651-133669851	Fibrobl	skin:	n/a	n/a
47	ZNF143	chr2:133669675-133669840	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr2:133669628-133669838	HepG2	liver:	n/a	n/a
49	RAD21	chr2:133669537-133669802	HepG2	liver:	n/a	chr2:133669692-133669705
50	CTCF	chr2:133669660-133669810	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000228721	TF binding region
ENSG00000233729	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking 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 target site	7 gene(s)	inside rSNPs	diseases
5	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv2931	chr2:133625818-133670963	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1004604	chr2:133658116-133761794	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv583159	chr2:133667285-133678457	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3519229	chr2:133669598-133674970	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 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	chr2:133667200-133681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133667600-133673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:133668800-133676400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:133669200-133669800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:133669200-133669800	Enhancers	Adipose Nuclei	Adipose
6	chr2:133669200-133669800	Enhancers	Colon Smooth Muscle	Colon
7	chr2:133669200-133669800	Enhancers	Fetal Lung	lung
8	chr2:133669200-133670200	Enhancers	Fetal Stomach	stomach
9	chr2:133669400-133669800	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:133669400-133669800	Enhancers	Lung	lung
11	chr2:133669400-133670200	Enhancers	Fetal Muscle Leg	muscle
12	chr2:133669400-133670400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:133669600-133670400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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