Variant report

Variant	rs73704508
Chromosome Location	chr8:126012286-126012287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:126012135-126012607	K562	blood:	n/a	n/a
2	HDAC2	chr8:126009279-126012568	MCF-7	breast:	n/a	chr8:126011339-126011353 chr8:126012289-126012303 chr8:126011334-126011348 chr8:126009538-126009557
3	HCFC1	chr8:126009962-126013365	Hela-S3	cervix:	n/a	n/a
4	SIN3AK20	chr8:126012163-126012480	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr8:126012259-126012389	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr8:126011971-126012329	MCF10A-Er-Src	breast:	n/a	n/a
7	IRF1	chr8:126012189-126012651	K562	blood:	n/a	n/a
8	SIN3AK20	chr8:126012104-126012729	K562	blood:	n/a	n/a
9	MXI1	chr8:126009574-126012833	SK-N-SH	brain:	n/a	n/a
10	SIN3A	chr8:126009786-126012731	H1-hESC	embryonic stem cell:	n/a	chr8:126010733-126010744 chr8:126010052-126010063
11	BHLHE40	chr8:126012269-126012526	K562	blood:	n/a	n/a
12	MAX	chr8:126012162-126012520	K562	blood:	n/a	n/a
13	MAX	chr8:126012179-126012501	Hela-S3	cervix:	n/a	n/a
14	MAX	chr8:126009650-126012765	MCF-7	breast:	n/a	chr8:126009942-126009951
15	POLR2A	chr8:126011986-126012535	K562	blood:	n/a	n/a
16	MXI1	chr8:126012129-126012486	GM12878	blood:	n/a	n/a
17	PRDM1	chr8:126012146-126012372	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr8:126012161-126012614	Hela-S3	cervix:	n/a	n/a
19	SIN3AK20	chr8:126012122-126012645	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr8:126009244-126012839	MCF-7	breast:	n/a	n/a
21	POLR2A	chr8:126009185-126013085	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr8:126012139-126012577	MCF10A-Er-Src	breast:	n/a	n/a
23	MXI1	chr8:126012223-126012519	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIN3AK20	chr8:126012206-126012371	HepG2	liver:	n/a	n/a
25	MAX	chr8:126010076-126012482	NB4	blood:	n/a	n/a
26	BACH1	chr8:126012154-126012298	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr8:126009550-126012402	PBDE	blood:	n/a	n/a
28	MAX	chr8:126012168-126012453	K562	blood:	n/a	n/a
29	MYC	chr8:126012209-126012616	K562	blood:	n/a	n/a
30	TEAD4	chr8:126012104-126012588	K562	blood:	n/a	n/a
31	MAFK	chr8:126012173-126012516	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr8:126009327-126012667	GM12891	blood:	n/a	n/a
33	RCOR1	chr8:126012266-126012525	Hela-S3	cervix:	n/a	n/a
34	UBTF	chr8:126012192-126012711	K562	blood:	n/a	n/a
35	ZNF143	chr8:126012268-126012390	GM12878	blood:	n/a	n/a
36	ZNF263	chr8:126009835-126013342	HEK293-T-REx	kidney:	n/a	chr8:126012424-126012433
37	MXI1	chr8:126009777-126012732	IMR90	lung:	n/a	n/a
38	STAT1	chr8:126012204-126012312	GM12878	blood:	n/a	n/a
39	BHLHE40	chr8:126012147-126012390	GM12878	blood:	n/a	n/a

No data

(count:13 , 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	chr5:96270371..96272445-chr8:126010140..126012494,2	MCF-7	breast:
4	chr8:125551256..125553908-chr8:126010348..126013536,3	K562	blood:
5	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
6	chr8:125984363..125986971-chr8:126010848..126012374,2	K562	blood:
7	chr8:125825718..125829730-chr8:126008807..126013107,8	K562	blood:
8	chr8:126010080..126012320-chr8:126100351..126105467,4	MCF-7	breast:
9	chr8:126010242..126013491-chr8:126029890..126034767,9	MCF-7	breast:
10	chr8:125981986..125989189-chr8:126007056..126015447,32	MCF-7	breast:
11	chr8:125549374..125552995-chr8:126009841..126015179,7	MCF-7	breast:
12	chr8:125984363..125986150-chr8:126010874..126012415,2	K562	blood:
13	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253513	TF binding region
ENSG00000164961	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73704525	0.83[AFR][1000 genomes]
rs73704528	1.00[AFR][1000 genomes]

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	chr8:126009800-126013000	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	chr8:126010000-126012400	Active TSS	Aorta	Aorta
16	chr8:126010000-126013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:126010000-126014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:126010000-126014200	Bivalent/Poised TSS	HepG2	liver
19	chr8:126010000-126014200	Active TSS	K562	blood
20	chr8:126010000-126014400	Active TSS	Brain Angular Gyrus	brain
21	chr8:126010000-126014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:126010000-126014600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:126010000-126014600	Active TSS	NHLF	lung
24	chr8:126010000-126015000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr8:126010000-126015200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr8:126010000-126015400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:126010200-126012600	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr8:126010200-126012800	Active TSS	Ovary	ovary
29	chr8:126010200-126013000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:126010200-126013000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:126010200-126013000	Active TSS	Gastric	stomach
32	chr8:126010200-126013000	Active TSS	HMEC	breast
33	chr8:126010200-126013200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:126010200-126013400	Active TSS	Lung	lung
35	chr8:126010200-126013400	Active TSS	Stomach Mucosa	stomach
36	chr8:126010200-126013600	Active TSS	HSMM	muscle
37	chr8:126010200-126013600	Active TSS	NH-A	brain
38	chr8:126010200-126013800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:126010200-126013800	Active TSS	Esophagus	oesophagus
40	chr8:126010200-126014000	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr8:126010200-126014000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:126010200-126014000	Active TSS	HSMMtube	muscle
43	chr8:126010200-126014000	Active TSS	NHEK	skin
44	chr8:126010200-126014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:126010200-126014200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:126010200-126014600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:126010200-126014800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:126010200-126014800	Active TSS	Brain Germinal Matrix	brain
49	chr8:126010200-126015000	Active TSS	H1 Cell Line	embryonic stem cell
50	chr8:126010200-126015400	Active TSS	GM12878-XiMat	blood

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