Variant report

Variant	rs560597015
Chromosome Location	chr8:126013290-126013291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr8:126009962-126013365	Hela-S3	cervix:	n/a	n/a
2	CUX1	chr8:126013289-126013746	K562	blood:	n/a	chr8:126013522-126013536
3	E2F4	chr8:126012932-126013800	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr8:126012858-126013504	K562	blood:	n/a	n/a
5	SIN3A	chr8:126012974-126013792	H1-hESC	embryonic stem cell:	n/a	n/a
6	WRNIP1	chr8:126012907-126013467	GM12878	blood:	n/a	n/a
7	MYC	chr8:126013198-126013444	MCF10A-Er-Src	breast:	n/a	n/a
8	TEAD4	chr8:126012621-126013290	K562	blood:	n/a	n/a
9	ZNF263	chr8:126009835-126013342	HEK293-T-REx	kidney:	n/a	chr8:126012424-126012433
10	POLR2A	chr8:126013128-126013528	MCF10A-Er-Src	breast:	n/a	n/a
11	TEAD4	chr8:126013254-126013714	K562	blood:	n/a	n/a
12	GTF3C2	chr8:126012445-126013482	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126011958..126013693-chr8:126058329..126060674,2	MCF-7	breast:
2	chr8:125982086..125986890-chr8:126008872..126013713,7	MCF-7	breast:
3	chr8:126009840..126012235-chr8:126013195..126016110,4	K562	blood:
4	chr8:125551256..125553908-chr8:126010348..126013536,3	K562	blood:
5	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
6	chr8:126010242..126013491-chr8:126029890..126034767,9	MCF-7	breast:
7	chr8:125981986..125989189-chr8:126007056..126015447,32	MCF-7	breast:
8	chr8:125549374..125552995-chr8:126009841..126015179,7	MCF-7	breast:
9	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253513	TF binding region
ENSG00000180938	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126009400-126014000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:126009800-126013400	Active TSS	Fetal Stomach	stomach
3	chr8:126009800-126013600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr8:126009800-126013800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:126009800-126014200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:126009800-126014200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:126009800-126014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:126009800-126014400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:126009800-126014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:126009800-126014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:126009800-126015000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:126009800-126015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:126009800-126015000	Active TSS	Brain Cingulate Gyrus	brain
14	chr8:126010000-126013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:126010000-126014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:126010000-126014200	Bivalent/Poised TSS	HepG2	liver
17	chr8:126010000-126014200	Active TSS	K562	blood
18	chr8:126010000-126014400	Active TSS	Brain Angular Gyrus	brain
19	chr8:126010000-126014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:126010000-126014600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:126010000-126014600	Active TSS	NHLF	lung
22	chr8:126010000-126015000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:126010000-126015200	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr8:126010000-126015400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:126010200-126013400	Active TSS	Lung	lung
26	chr8:126010200-126013400	Active TSS	Stomach Mucosa	stomach
27	chr8:126010200-126013600	Active TSS	HSMM	muscle
28	chr8:126010200-126013600	Active TSS	NH-A	brain
29	chr8:126010200-126013800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:126010200-126013800	Active TSS	Esophagus	oesophagus
31	chr8:126010200-126014000	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:126010200-126014000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:126010200-126014000	Active TSS	HSMMtube	muscle
34	chr8:126010200-126014000	Active TSS	NHEK	skin
35	chr8:126010200-126014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:126010200-126014200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:126010200-126014600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:126010200-126014800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:126010200-126014800	Active TSS	Brain Germinal Matrix	brain
40	chr8:126010200-126015000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr8:126010200-126015400	Active TSS	GM12878-XiMat	blood
42	chr8:126010200-126016400	Active TSS	Fetal Brain Female	brain
43	chr8:126010400-126013800	Active TSS	Brain Substantia Nigra	brain
44	chr8:126010400-126014400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:126010400-126014800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr8:126010800-126013800	Active TSS	Right Atrium	heart
47	chr8:126010800-126014200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:126011000-126013600	Active TSS	Fetal Brain Male	brain
49	chr8:126011000-126014400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:126011000-126015600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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