Variant report

Variant	rs73005353
Chromosome Location	chr4:174253178-174253179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:174253079-174256879	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:174252872-174254956	SK-N-SH	brain:	n/a	n/a
3	STAT3	chr4:174253060-174253639	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr4:174252562-174257085	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:174253071-174253825	HL-60	blood:	n/a	n/a
6	POLR2A	chr4:174253091-174253644	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:174253089-174257840	PBDE	blood:	n/a	n/a
8	CHD1	chr4:174253078-174256726	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:174252993-174253511	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:174241673-174256923	K562	blood:	n/a	n/a
11	FOS	chr4:174253127-174253595	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr4:174253021-174256974	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:174253035-174253419	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:174253043-174253436	PFSK-1	brain:	n/a	n/a
15	HEY1	chr4:174253067-174256860	K562	blood:	n/a	n/a
16	POLR2A	chr4:174252838-174254946	U87	brain:	n/a	n/a
17	MXI1	chr4:174252924-174257416	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr4:174253126-174253661	MCF-7	breast:	n/a	n/a
19	POLR2A	chr4:174253072-174253343	GM12891	blood:	n/a	n/a
20	POLR2A	chr4:174252651-174256931	GM12891	blood:	n/a	n/a
21	CTCF	chr4:174253062-174253418	T-47D	breast:	n/a	n/a
22	PRDM1	chr4:174252882-174254255	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr4:174253039-174253591	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr4:174252984-174253418	K562	blood:	n/a	n/a
25	POLR2A	chr4:174253156-174256905	K562	blood:	n/a	n/a
26	CHD1	chr4:174253113-174255678	IMR90	lung:	n/a	n/a
27	POLR2A	chr4:174252986-174256976	K562	blood:	n/a	n/a
28	POLR2A	chr4:174253130-174253302	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr4:174253047-174253388	K562	blood:	n/a	n/a
30	ZNF263	chr4:174253080-174253700	HEK293-T-REx	kidney:	n/a	chr4:174253294-174253315 chr4:174253270-174253291
31	POLR2A	chr4:174253038-174253315	GM12892	blood:	n/a	n/a
32	SP1	chr4:174253104-174253442	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr4:174253114-174253689	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr4:174253016-174253729	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:174252672-174256735	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:174252970-174254926	U87	brain:	n/a	n/a
37	POLR2A	chr4:174252907-174254940	U87	brain:	n/a	n/a
38	EP300	chr4:174253026-174253378	T-47D	breast:	n/a	n/a
39	POLR2A	chr4:174253109-174256789	GM18505	blood:	n/a	n/a
40	POLR2A	chr4:174253016-174256826	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr4:174253123-174256907	GM19099	blood:	n/a	n/a
42	POLR2A	chr4:174253053-174254731	A549	lung:	n/a	n/a
43	MYC	chr4:174253051-174253251	K562	blood:	n/a	n/a
44	POLR2A	chr4:174252923-174254926	U87	brain:	n/a	n/a
45	POLR2A	chr4:174253136-174253352	ProgFib	skin:	n/a	n/a
46	TBL1XR1	chr4:174253018-174253268	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174235911..174241843-chr4:174252129..174256843,8	MCF-7	breast:
2	chr4:174252933..174259053-chr4:174284716..174299463,25	MCF-7	breast:
3	chr4:174124001..174126902-chr4:174251610..174253502,2	K562	blood:
4	chr4:174252529..174254237-chr4:174310710..174314064,3	K562	blood:
5	chr4:174236553..174238246-chr4:174252256..174255758,3	MCF-7	breast:
6	chr4:174251329..174253900-chr4:174300222..174303986,3	K562	blood:
7	chr4:174250771..174257645-chr4:174286907..174294441,15	MCF-7	breast:
8	chr4:174245727..174260507-chr4:174283013..174295498,65	K562	blood:
9	chr4:174248778..174262653-chr4:174278408..174298501,82	K562	blood:
10	chr4:174168542..174170640-chr4:174252148..174254186,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248774	TF binding region
ENSG00000164105	Chromatin interaction
ENSG00000272870	Chromatin interaction
ENSG00000109586	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11132982	0.87[ASN][1000 genomes]
rs11722602	0.86[EUR][1000 genomes]
rs11722807	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11724459	1.00[EUR][1000 genomes]
rs11726679	0.95[ASN][1000 genomes]
rs11728029	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11729778	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11731057	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11731262	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11734517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736050	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1481120	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34885736	1.00[EUR][1000 genomes]
rs3733476	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775591	0.87[ASN][1000 genomes]
rs4695829	0.80[ASN][1000 genomes]
rs56159092	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58185783	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58612091	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61470087	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6821844	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6842693	0.89[ASN][1000 genomes]
rs6853427	0.88[ASN][1000 genomes]
rs72999543	0.82[ASN][1000 genomes]
rs73001512	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73003342	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73003349	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73003362	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73003376	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73005346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73005356	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73005357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73005363	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7664847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7665469	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7668435	0.87[ASN][1000 genomes]
rs7672055	0.84[ASN][1000 genomes]
rs7686909	0.86[ASN][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	nsv966552	chr4:174248506-174259305	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr4:174215200-174254000	Weak transcription	Psoas Muscle	Psoas
2	chr4:174229200-174253200	Weak transcription	Small Intestine	intestine
3	chr4:174231200-174254000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:174235600-174253200	Weak transcription	Colonic Mucosa	Colon
5	chr4:174236000-174253800	Weak transcription	Right Ventricle	heart
6	chr4:174236400-174253200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:174237400-174254200	Weak transcription	Ovary	ovary
8	chr4:174237600-174253200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:174237600-174254000	Weak transcription	Esophagus	oesophagus
10	chr4:174237600-174254400	Weak transcription	Pancreas	Pancrea
11	chr4:174237800-174253200	Weak transcription	Gastric	stomach
12	chr4:174238200-174253200	Weak transcription	Aorta	Aorta
13	chr4:174238400-174254400	Weak transcription	Lung	lung
14	chr4:174240400-174253800	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:174240600-174253200	Weak transcription	Stomach Mucosa	stomach
16	chr4:174240600-174253600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:174240800-174253400	Weak transcription	Brain Angular Gyrus	brain
18	chr4:174241000-174253400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:174241200-174253200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:174241200-174254000	Weak transcription	HSMMtube	muscle
21	chr4:174242600-174253200	Weak transcription	Fetal Brain Male	brain
22	chr4:174244000-174254000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:174244000-174254000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:174245800-174254400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:174246000-174253200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:174246400-174253200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:174247200-174253800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:174247200-174254000	Weak transcription	Spleen	Spleen
29	chr4:174247200-174254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:174249000-174253200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:174249200-174253200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:174249200-174253200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr4:174249200-174253200	Weak transcription	Right Atrium	heart
34	chr4:174249400-174253200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:174249400-174253800	Strong transcription	Placenta	Placenta
36	chr4:174249600-174253200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr4:174249600-174253200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr4:174249800-174253200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr4:174250000-174254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:174250200-174253200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:174250200-174253200	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:174250200-174253200	Weak transcription	Fetal Stomach	stomach
43	chr4:174250200-174253200	Weak transcription	Left Ventricle	heart
44	chr4:174250200-174253200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:174250200-174253200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:174250200-174253400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:174250800-174254000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:174251000-174253200	Weak transcription	Brain Substantia Nigra	brain
49	chr4:174251000-174254600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
50	chr4:174251400-174253200	Strong transcription	ES-WA7 Cell Line	embryonic stem cell

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