Variant report

Variant	rs181364461
Chromosome Location	chr8:126013520-126013521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr8:126013289-126013746	K562	blood:	n/a	chr8:126013522-126013536
2	GATA2	chr8:126013410-126013767	SH-SY5Y	brain:	n/a	n/a
3	UBTF	chr8:126013340-126013605	K562	blood:	n/a	n/a
4	E2F4	chr8:126012932-126013800	MCF10A-Er-Src	breast:	n/a	n/a
5	SIN3A	chr8:126012974-126013792	H1-hESC	embryonic stem cell:	n/a	n/a
6	SPI1	chr8:126013351-126013687	HL-60	blood:	n/a	n/a
7	SPI1	chr8:126013370-126013585	K562	blood:	n/a	n/a
8	POLR2A	chr8:126013128-126013528	MCF10A-Er-Src	breast:	n/a	n/a
9	TEAD4	chr8:126013254-126013714	K562	blood:	n/a	n/a
10	CTCF	chr8:126013480-126013630	HVMF	connective:	n/a	n/a
11	GATA3	chr8:126013390-126013745	SH-SY5Y	brain:	n/a	n/a

No data

(count:7 , 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	chr8:125981986..125989189-chr8:126007056..126015447,32	MCF-7	breast:
6	chr8:125549374..125552995-chr8:126009841..126015179,7	MCF-7	breast:
7	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253513	TF binding region
ENSG00000147687	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000180938	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:123 , 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	chr8:126009800-126013600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr8:126009800-126013800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:126009800-126014200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr8:126009800-126014200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:126009800-126014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:126009800-126014400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:126009800-126014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr8:126009800-126014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:126009800-126015000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr8:126009800-126015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:126009800-126015000	Active TSS	Brain Cingulate Gyrus	brain
13	chr8:126010000-126013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:126010000-126014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:126010000-126014200	Bivalent/Poised TSS	HepG2	liver
16	chr8:126010000-126014200	Active TSS	K562	blood
17	chr8:126010000-126014400	Active TSS	Brain Angular Gyrus	brain
18	chr8:126010000-126014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:126010000-126014600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:126010000-126014600	Active TSS	NHLF	lung
21	chr8:126010000-126015000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:126010000-126015200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:126010000-126015400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:126010200-126013600	Active TSS	HSMM	muscle
25	chr8:126010200-126013600	Active TSS	NH-A	brain
26	chr8:126010200-126013800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:126010200-126013800	Active TSS	Esophagus	oesophagus
28	chr8:126010200-126014000	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr8:126010200-126014000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:126010200-126014000	Active TSS	HSMMtube	muscle
31	chr8:126010200-126014000	Active TSS	NHEK	skin
32	chr8:126010200-126014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:126010200-126014200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:126010200-126014600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:126010200-126014800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:126010200-126014800	Active TSS	Brain Germinal Matrix	brain
37	chr8:126010200-126015000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr8:126010200-126015400	Active TSS	GM12878-XiMat	blood
39	chr8:126010200-126016400	Active TSS	Fetal Brain Female	brain
40	chr8:126010400-126013800	Active TSS	Brain Substantia Nigra	brain
41	chr8:126010400-126014400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:126010400-126014800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr8:126010800-126013800	Active TSS	Right Atrium	heart
44	chr8:126010800-126014200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:126011000-126013600	Active TSS	Fetal Brain Male	brain
46	chr8:126011000-126014400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:126011000-126015600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:126011400-126014800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:126011600-126013600	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr8:126011600-126013800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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