Variant report

Variant	rs73704507
Chromosome Location	chr8:126011956-126011957
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr8:126009279-126012568	MCF-7	breast:	n/a	chr8:126011339-126011353 chr8:126012289-126012303 chr8:126011334-126011348 chr8:126009538-126009557
2	HCFC1	chr8:126009962-126013365	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr8:126009574-126012833	SK-N-SH	brain:	n/a	n/a
4	SIN3A	chr8:126009786-126012731	H1-hESC	embryonic stem cell:	n/a	chr8:126010733-126010744 chr8:126010052-126010063
5	ZNF263	chr8:126009966-126011968	K562	blood:	n/a	n/a
6	TCF12	chr8:126009833-126012026	A549	lung:	n/a	chr8:126010738-126010745
7	MAX	chr8:126009907-126011968	A549	lung:	n/a	chr8:126009942-126009951
8	MAX	chr8:126009650-126012765	MCF-7	breast:	n/a	chr8:126009942-126009951
9	MAZ	chr8:126009833-126011957	K562	blood:	n/a	chr8:126009942-126009951
10	SIN3AK20	chr8:126009244-126012839	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:126009185-126013085	SK-N-MC	brain:	n/a	n/a
12	EGR1	chr8:126009571-126012062	MCF-7	breast:	n/a	chr8:126010771-126010781 chr8:126010703-126010716 chr8:126010460-126010469 chr8:126010651-126010661 chr8:126010646-126010659 chr8:126010556-126010566 chr8:126010456-126010470 chr8:126010701-126010711 chr8:126010015-126010028 chr8:126010769-126010783
13	MAX	chr8:126010076-126012482	NB4	blood:	n/a	n/a
14	POLR2A	chr8:126009550-126012402	PBDE	blood:	n/a	n/a
15	MTA3	chr8:126009482-126011963	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:126009327-126012667	GM12891	blood:	n/a	n/a
17	RFX5	chr8:126011532-126012096	Hela-S3	cervix:	n/a	n/a
18	ZNF263	chr8:126009835-126013342	HEK293-T-REx	kidney:	n/a	chr8:126012424-126012433
19	MXI1	chr8:126009777-126012732	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:126011954-126012004	SK-N-MC	brain:	n/a
2	chr8:126011954-126012004	K562	blood:	n/a
3	chr8:126011954-126012004	CMK	blood:	n/a
4	chr8:126011954-126012004	HepG2	liver:	n/a
5	chr8:126011954-126012004	AoSMC	blood vessel:	n/a
6	chr8:126011954-126012004	HUVEC	blood vessel:	n/a
7	chr8:126011954-126012004	Jurkat	blood:	n/a
8	chr8:126011954-126012004	ECC-1	luminal epithelium:	n/a
9	chr8:126011954-126012004	IMR90	lung:	fetal
10	chr8:126011954-126012004	MCF10A-Er-Src	breast:	n/a
11	chr8:126011954-126012004	AG10803	skin:	n/a
12	chr8:126011954-126012004	NHBE	bronchial:	n/a
13	chr8:126011954-126012004	HCT-116	colon:	n/a
14	chr8:126011954-126012004	Hela-S3	cervix:	n/a
15	chr8:126011954-126012004	HNPCEpiC	eye:	n/a
16	chr8:126011954-126012004	GM12891	blood:	n/a
17	chr8:126011954-126012004	BJ	skin:	n/a
18	chr8:126011954-126012004	HEK293	kidney:	embryo
19	chr8:126011954-126012004	Hepatocyte	liver:	n/a
20	chr8:126011954-126012004	HEEpiC	esophagus:	n/a
21	chr8:126011954-126012004	AG09319	gingival:	n/a
22	chr8:126011954-126012004	NH-A	brain:	n/a
23	chr8:126011954-126012004	NB4	blood:	n/a
24	chr8:126011954-126012004	GM12892	blood:	n/a
25	chr8:126011954-126012004	NHDF-neo	bronchial:	n/a
26	chr8:126011954-126012004	HCPEpiC	choroid plexus:	n/a
27	chr8:126011954-126012004	HRPEpiC	eye:	n/a
28	chr8:126011954-126012004	HCF	heart:	n/a
29	chr8:126011954-126012004	HMEC	breast:	n/a
30	chr8:126011954-126012004	A549	lung:	n/a
31	chr8:126011954-126012004	SKMC	muscle:	n/a
32	chr8:126011954-126012004	HL-60	blood:	n/a
33	chr8:126011954-126012004	ovcar-3	ovarian:	n/a
34	chr8:126011954-126012004	AG04450	lung:	fetal
35	chr8:126011954-126012004	PrEC	prostate:	n/a
36	chr8:126011954-126012004	AG04449	skin:	fetal
37	chr8:126011954-126012004	PANC-1	pancreas:	n/a
38	chr8:126011954-126012004	NT2-D1	testis:	n/a
39	chr8:126011954-126012004	SK-N-SH	brain:	n/a
40	chr8:126011954-126012004	LNCaP	prostate:	n/a
41	chr8:126011954-126012004	GM12878	blood:	n/a
42	chr8:126011954-126012004	AG09309	skin:	n/a
43	chr8:126011954-126012004	BE2_C	brain:	n/a
44	chr8:126011954-126012004	SAEC	small airway:	n/a
45	chr8:126011954-126012004	RPTEC	kidney:	n/a
46	chr8:126011954-126012004	HRCEpiC	kidney:	n/a
47	chr8:126011954-126012004	HRE	kidney:	n/a
48	chr8:126011954-126012004	T-47D	breast:	n/a
49	chr8:126011954-126012004	U87	brain:	n/a
50	chr8:126011954-126012004	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:125982086..125986890-chr8:126008872..126013713,7	MCF-7	breast:
2	chr5:96270371..96272445-chr8:126010140..126012494,2	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	chr8:125984363..125986971-chr8:126010848..126012374,2	K562	blood:
6	chr8:125825718..125829730-chr8:126008807..126013107,8	K562	blood:
7	chr8:126010080..126012320-chr8:126100351..126105467,4	MCF-7	breast:
8	chr8:126010242..126013491-chr8:126029890..126034767,9	MCF-7	breast:
9	chr8:125981986..125989189-chr8:126007056..126015447,32	MCF-7	breast:
10	chr8:125549374..125552995-chr8:126009841..126015179,7	MCF-7	breast:
11	chr8:125984363..125986150-chr8:126010874..126012415,2	K562	blood:
12	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:

No data

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10481077	0.90[AFR][1000 genomes]
rs10481078	0.90[AFR][1000 genomes]
rs28828449	0.90[AFR][1000 genomes]
rs58355476	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7012867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7012918	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704509	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706181	0.90[AFR][1000 genomes]
rs73706184	0.90[AFR][1000 genomes]
rs73706190	0.90[AFR][1000 genomes]
rs9297705	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:127 , 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	chr8:126009800-126012200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:126009800-126012200	Active TSS	Brain Hippocampus Middle	brain
4	chr8:126009800-126013000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:126009800-126013400	Active TSS	Fetal Stomach	stomach
6	chr8:126009800-126013600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:126009800-126013800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:126009800-126014200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr8:126009800-126014200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:126009800-126014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:126009800-126014400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:126009800-126014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:126009800-126014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:126009800-126015000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr8:126009800-126015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:126009800-126015000	Active TSS	Brain Cingulate Gyrus	brain
17	chr8:126010000-126012000	Active TSS	Fetal Kidney	kidney
18	chr8:126010000-126012400	Active TSS	Aorta	Aorta
19	chr8:126010000-126013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:126010000-126014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:126010000-126014200	Bivalent/Poised TSS	HepG2	liver
22	chr8:126010000-126014200	Active TSS	K562	blood
23	chr8:126010000-126014400	Active TSS	Brain Angular Gyrus	brain
24	chr8:126010000-126014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:126010000-126014600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr8:126010000-126014600	Active TSS	NHLF	lung
27	chr8:126010000-126015000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:126010000-126015200	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:126010000-126015400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:126010200-126012000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr8:126010200-126012000	Active TSS	Fetal Lung	lung
32	chr8:126010200-126012000	Active TSS	A549	lung
33	chr8:126010200-126012000	Active TSS	Osteobl	bone
34	chr8:126010200-126012200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr8:126010200-126012200	Active TSS	Fetal Intestine Large	intestine
36	chr8:126010200-126012200	Active TSS	Right Ventricle	heart
37	chr8:126010200-126012200	Active TSS	Small Intestine	intestine
38	chr8:126010200-126012600	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr8:126010200-126012800	Active TSS	Ovary	ovary
40	chr8:126010200-126013000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:126010200-126013000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:126010200-126013000	Active TSS	Gastric	stomach
43	chr8:126010200-126013000	Active TSS	HMEC	breast
44	chr8:126010200-126013200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:126010200-126013400	Active TSS	Lung	lung
46	chr8:126010200-126013400	Active TSS	Stomach Mucosa	stomach
47	chr8:126010200-126013600	Active TSS	HSMM	muscle
48	chr8:126010200-126013600	Active TSS	NH-A	brain
49	chr8:126010200-126013800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:126010200-126013800	Active TSS	Esophagus	oesophagus

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