Variant report

Variant	rs7268196
Chromosome Location	chr20:25039908-25039909
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	chr20:25039880-25040030	WERI-Rb-1	eye:	n/a	chr20:25040001-25040010
2	BHLHE40	chr20:25037730-25040053	GM12878	blood:	n/a	chr20:25038140-25038156 chr20:25039115-25039124 chr20:25038316-25038332 chr20:25039115-25039124 chr20:25039114-25039123 chr20:25039109-25039130
3	CTCF	chr20:25039900-25040050	GM12874	blood:	n/a	chr20:25040001-25040010
4	CTCF	chr20:25039860-25040010	Caco-2	colon:	n/a	chr20:25040001-25040010
5	MAZ	chr20:25039850-25040071	HepG2	liver:	n/a	n/a
6	CTCF	chr20:25039900-25040050	GM12875	blood:	n/a	chr20:25040001-25040010
7	CTCF	chr20:25039880-25040030	HVMF	connective:	n/a	chr20:25040001-25040010
8	CTCF	chr20:25039900-25040050	SK-N-SH_RA	brain:	n/a	chr20:25040001-25040010
9	WRNIP1	chr20:25039867-25040064	GM12878	blood:	n/a	n/a
10	CTCF	chr20:25039900-25040050	HBMEC	blood vessel:	n/a	chr20:25040001-25040010
11	POLR2A	chr20:25037651-25040149	GM12878	blood:	n/a	n/a
12	EBF1	chr20:25039879-25040001	GM12878	blood:	n/a	chr20:25039927-25039938
13	CTCF	chr20:25039860-25040010	HUVEC	blood vessel:	n/a	chr20:25040001-25040010
14	RAD21	chr20:25039891-25040155	HepG2	liver:	n/a	n/a
15	EGR1	chr20:25039896-25040061	K562	blood:	n/a	n/a
16	CTCF	chr20:25039900-25040050	HFF-Myc	foreskin:	n/a	chr20:25040001-25040010
17	CTCF	chr20:25039900-25040050	AG09319	gingival:	n/a	chr20:25040001-25040010
18	ZNF263	chr20:25039807-25040197	HEK293-T-REx	kidney:	n/a	chr20:25039953-25039962
19	CTCF	chr20:25039880-25040030	GM12866	blood:	n/a	chr20:25040001-25040010
20	CTCF	chr20:25039900-25040050	AG04450	lung:	n/a	chr20:25040001-25040010
21	EGR1	chr20:25039863-25040053	K562	blood:	n/a	n/a
22	CTCF	chr20:25039880-25040030	MCF-7	breast:	n/a	chr20:25040001-25040010
23	CTCF	chr20:25039900-25040050	HMEC	breast:	n/a	chr20:25040001-25040010
24	CTCF	chr20:25039840-25039990	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24970831..24976063-chr20:25037253..25040567,5	MCF-7	breast:

Variant related genes	Relation type
ACSS1	TF binding region
ENSG00000101474	Chromatin interaction

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

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

rs_ID	r²[population]
rs11907003	0.85[AMR][1000 genomes]
rs35022349	0.85[AMR][1000 genomes]
rs7270954	1.00[AMR][1000 genomes]
rs7271250	0.89[YRI][hapmap]
rs73906075	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25037400-25040200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr20:25037800-25040000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr20:25037800-25040000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:25038200-25040000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr20:25039000-25040000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr20:25039000-25040000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:25039000-25040000	Flanking Active TSS	Stomach Mucosa	stomach
8	chr20:25039000-25040000	Flanking Active TSS	GM12878-XiMat	blood
9	chr20:25039000-25040200	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr20:25039000-25040200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:25039000-25040200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr20:25039000-25040200	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr20:25039000-25040200	Flanking Active TSS	Dnd41	blood
14	chr20:25039200-25040000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr20:25039200-25040000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr20:25039200-25040000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr20:25039200-25040000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr20:25039200-25040000	Flanking Active TSS	Fetal Lung	lung
19	chr20:25039200-25040200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:25039200-25040200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr20:25039200-25040200	Enhancers	Fetal Heart	heart
22	chr20:25039400-25040000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr20:25039400-25040200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
24	chr20:25039400-25041000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr20:25039600-25040000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr20:25039600-25040000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr20:25039600-25040000	Weak transcription	Left Ventricle	heart
28	chr20:25039600-25040000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr20:25039600-25040000	Flanking Active TSS	Thymus	Thymus
30	chr20:25039600-25040000	Bivalent Enhancer	NH-A	brain
31	chr20:25039600-25040000	Bivalent Enhancer	Osteobl	bone
32	chr20:25039600-25040200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:25039600-25040200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr20:25039600-25040200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr20:25039600-25040200	Enhancers	Liver	Liver
36	chr20:25039600-25040200	Enhancers	Brain Germinal Matrix	brain
37	chr20:25039600-25040200	Enhancers	Brain Substantia Nigra	brain
38	chr20:25039600-25040200	Enhancers	Lung	lung
39	chr20:25039600-25040200	Enhancers	Spleen	Spleen
40	chr20:25039600-25040400	Enhancers	Primary B cells from cord blood	blood
41	chr20:25039600-25040400	Enhancers	Primary B cells from peripheral blood	blood
42	chr20:25039600-25040400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr20:25039600-25040400	Enhancers	Brain Cingulate Gyrus	brain
44	chr20:25039600-25040400	Enhancers	Duodenum Mucosa	Duodenum
45	chr20:25039600-25040400	Enhancers	Fetal Intestine Large	intestine
46	chr20:25039600-25040400	Enhancers	Placenta	Placenta
47	chr20:25039600-25040400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr20:25039600-25040600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr20:25039600-25040800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:25039600-25041000	Enhancers	Fetal Muscle Trunk	muscle

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