Variant report

Variant	rs4717335
Chromosome Location	chr7:66461112-66461113
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr7:66460402-66461629	A549	lung:	n/a	n/a
2	TAF1	chr7:66460978-66461153	Hela-S3	cervix:	n/a	n/a
3	NR2F2	chr7:66459290-66462359	K562	blood:	n/a	chr7:66459441-66459456
4	POLR2A	chr7:66461020-66462143	PFSK-1	brain:	n/a	n/a
5	HEY1	chr7:66460946-66461159	K562	blood:	n/a	n/a
6	SIN3AK20	chr7:66461080-66462269	SK-N-SH	brain:	n/a	n/a
7	HCFC1	chr7:66459596-66461233	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:66461005-66461142	MCF-7	breast:	n/a	n/a
9	GTF3C2	chr7:66461024-66461496	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr7:66460478-66461159	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:66460994-66462144	SK-N-SH	brain:	n/a	n/a
12	MYBL2	chr7:66461067-66462120	HepG2	liver:	n/a	n/a
13	ESRRA	chr7:66459706-66462400	GM12878	blood:	n/a	chr7:66461988-66462001
14	POLR2A	chr7:66459678-66461190	K562	blood:	n/a	n/a
15	CTCF	chr7:66461073-66461122	MCF-7	breast:	n/a	n/a
16	MYC	chr7:66461021-66461121	MCF-7	breast:	n/a	n/a
17	GABPA	chr7:66461034-66461171	GM12878	blood:	n/a	n/a
18	SIN3AK20	chr7:66461015-66461169	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:66460901-66461164	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:66460993-66461169	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:66460993-66461168	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:66460984-66461139	HUVEC	blood vessel:	n/a	n/a
23	MXI1	chr7:66459266-66462591	SK-N-SH	brain:	n/a	n/a
24	BATF	chr7:66461088-66461546	GM12878	blood:	n/a	chr7:66461314-66461325
25	HEY1	chr7:66460915-66461695	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66307509..66310194-chr7:66460135..66463061,3	K562	blood:
2	chr7:66385651..66388919-chr7:66460114..66462403,3	MCF-7	breast:
3	chr7:66385188..66388317-chr7:66459133..66463010,3	K562	blood:
4	chr7:66384595..66388317-chr7:66459135..66463010,5	K562	blood:
5	chr7:66458248..66462145-chr7:72299146..72302148,5	K562	blood:
6	chr7:66205494..66207120-chr7:66460055..66461810,2	MCF-7	breast:
7	chr7:66458802..66462145-chr7:72298376..72302148,5	K562	blood:
8	chr7:66309584..66311542-chr7:66458819..66461691,3	K562	blood:

No data

Variant related genes	Relation type
SBDS	TF binding region
TYW1	TF binding region
ENSG00000230583	Chromatin interaction
ENSG00000254184	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000225648	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12531516	0.81[AMR][1000 genomes]
rs12532160	0.81[AMR][1000 genomes]
rs12534156	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12534278	0.81[AMR][1000 genomes]
rs12535023	0.81[AMR][1000 genomes]
rs12537353	0.81[AMR][1000 genomes]
rs12537414	0.81[AMR][1000 genomes]
rs12538152	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12538724	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12539604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12540695	0.81[AMR][1000 genomes]
rs28867847	0.80[ASN][1000 genomes]
rs35448884	0.81[AMR][1000 genomes]
rs4717342	0.81[EUR][1000 genomes]
rs4718438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4718450	0.81[AMR][1000 genomes]
rs62466582	0.81[AMR][1000 genomes]
rs62466584	0.81[AMR][1000 genomes]
rs62466586	0.81[AMR][1000 genomes]
rs62466588	0.81[AMR][1000 genomes]
rs62466589	0.81[AMR][1000 genomes]
rs62466591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62466592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62466594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62466596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62466612	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62466613	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62466616	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62466625	0.85[ASN][1000 genomes]
rs62466632	0.81[AMR][1000 genomes]
rs62466633	0.81[AMR][1000 genomes]
rs62466634	0.81[AMR][1000 genomes]
rs62466635	0.81[AMR][1000 genomes]
rs62466637	0.81[AMR][1000 genomes]
rs62466638	0.81[AMR][1000 genomes]
rs62466639	0.81[AMR][1000 genomes]
rs62466640	0.81[AMR][1000 genomes]
rs62466642	0.81[AMR][1000 genomes]
rs62466657	0.81[AMR][1000 genomes]
rs62466659	0.81[AMR][1000 genomes]
rs62468374	0.81[AMR][1000 genomes]
rs62468375	0.81[AMR][1000 genomes]
rs62468378	0.81[AMR][1000 genomes]
rs62468379	0.81[AMR][1000 genomes]
rs62468380	0.81[AMR][1000 genomes]
rs62468381	0.81[AMR][1000 genomes]
rs62468382	0.81[AMR][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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr7:66458600-66462600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:66458600-66462800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:66458800-66462400	Active TSS	Right Ventricle	heart
4	chr7:66458800-66462600	Active TSS	NHLF	lung
5	chr7:66458800-66463000	Active TSS	Hela-S3	cervix
6	chr7:66459000-66462600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:66459000-66462600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:66459000-66462600	Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:66459000-66462600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:66459000-66462600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr7:66459000-66462600	Active TSS	Stomach Smooth Muscle	stomach
12	chr7:66459000-66462600	Active TSS	A549	lung
13	chr7:66459000-66462600	Active TSS	HSMM	muscle
14	chr7:66459000-66462600	Active TSS	NHDF-Ad	bronchial
15	chr7:66459000-66462800	Active TSS	Right Atrium	heart
16	chr7:66459000-66463000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:66459000-66463200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:66459000-66463200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:66459200-66461800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr7:66459200-66462200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:66459200-66462200	Active TSS	Aorta	Aorta
22	chr7:66459200-66462400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:66459200-66462400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:66459200-66462400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:66459200-66462400	Active TSS	Colonic Mucosa	Colon
26	chr7:66459200-66462400	Active TSS	Fetal Lung	lung
27	chr7:66459200-66462400	Active TSS	Placenta	Placenta
28	chr7:66459200-66462400	Active TSS	Left Ventricle	heart
29	chr7:66459200-66462400	Active TSS	Pancreas	Pancrea
30	chr7:66459200-66462400	Active TSS	Psoas Muscle	Psoas
31	chr7:66459200-66462600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr7:66459200-66462600	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr7:66459200-66462600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:66459200-66462600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr7:66459200-66462600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:66459200-66462600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:66459200-66462600	Active TSS	Brain Anterior Caudate	brain
38	chr7:66459200-66462600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:66459200-66462600	Active TSS	Fetal Brain Female	brain
40	chr7:66459200-66462600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr7:66459200-66462600	Active TSS	Fetal Muscle Leg	muscle
42	chr7:66459200-66462600	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr7:66459200-66462600	Active TSS	GM12878-XiMat	blood
44	chr7:66459200-66462600	Active TSS	HMEC	breast
45	chr7:66459200-66462600	Active TSS	HSMMtube	muscle
46	chr7:66459200-66462600	Active TSS	HUVEC	blood vessel
47	chr7:66459200-66462600	Active TSS	NH-A	brain
48	chr7:66459200-66462800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:66459200-66463000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:66459400-66462200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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