Variant report

Variant	rs189263262
Chromosome Location	chr8:126012795-126012796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 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	CTCF	chr8:126012660-126012810	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr8:126009574-126012833	SK-N-SH	brain:	n/a	n/a
4	SIN3AK20	chr8:126009244-126012839	MCF-7	breast:	n/a	n/a
5	POLR2A	chr8:126009185-126013085	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr8:126012502-126012827	HepG2	liver:	n/a	n/a
7	SIN3AK20	chr8:126012717-126012861	HepG2	liver:	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	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	chr8:125551256..125553908-chr8:126010348..126013536,3	K562	blood:
4	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
5	chr8:125825718..125829730-chr8:126008807..126013107,8	K562	blood:
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
ENSG00000104549	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000147687	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	chr8:126009800-126013000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:126009800-126013400	Active TSS	Fetal Stomach	stomach
4	chr8:126009800-126013600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:126009800-126013800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:126009800-126014200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:126009800-126014200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:126009800-126014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:126009800-126014400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:126009800-126014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:126009800-126014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:126009800-126015000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:126009800-126015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:126009800-126015000	Active TSS	Brain Cingulate Gyrus	brain
15	chr8:126010000-126013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:126010000-126014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:126010000-126014200	Bivalent/Poised TSS	HepG2	liver
18	chr8:126010000-126014200	Active TSS	K562	blood
19	chr8:126010000-126014400	Active TSS	Brain Angular Gyrus	brain
20	chr8:126010000-126014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:126010000-126014600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:126010000-126014600	Active TSS	NHLF	lung
23	chr8:126010000-126015000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr8:126010000-126015200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr8:126010000-126015400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:126010200-126012800	Active TSS	Ovary	ovary
27	chr8:126010200-126013000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:126010200-126013000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:126010200-126013000	Active TSS	Gastric	stomach
30	chr8:126010200-126013000	Active TSS	HMEC	breast
31	chr8:126010200-126013200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:126010200-126013400	Active TSS	Lung	lung
33	chr8:126010200-126013400	Active TSS	Stomach Mucosa	stomach
34	chr8:126010200-126013600	Active TSS	HSMM	muscle
35	chr8:126010200-126013600	Active TSS	NH-A	brain
36	chr8:126010200-126013800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:126010200-126013800	Active TSS	Esophagus	oesophagus
38	chr8:126010200-126014000	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr8:126010200-126014000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:126010200-126014000	Active TSS	HSMMtube	muscle
41	chr8:126010200-126014000	Active TSS	NHEK	skin
42	chr8:126010200-126014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:126010200-126014200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:126010200-126014600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:126010200-126014800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:126010200-126014800	Active TSS	Brain Germinal Matrix	brain
47	chr8:126010200-126015000	Active TSS	H1 Cell Line	embryonic stem cell
48	chr8:126010200-126015400	Active TSS	GM12878-XiMat	blood
49	chr8:126010200-126016400	Active TSS	Fetal Brain Female	brain
50	chr8:126010400-126013000	Active TSS	HUVEC	blood vessel

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