Variant report

Variant	rs73005357
Chromosome Location	chr4:174253647-174253648
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:174253321-174254099	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr4:174253079-174256879	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:174252872-174254956	SK-N-SH	brain:	n/a	n/a
4	TAL1	chr4:174253476-174257034	K562	blood:	n/a	n/a
5	POLR2A	chr4:174252562-174257085	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:174253071-174253825	HL-60	blood:	n/a	n/a
7	POLR2A	chr4:174253622-174256835	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:174253089-174257840	PBDE	blood:	n/a	n/a
9	CHD1	chr4:174253078-174256726	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:174241673-174256923	K562	blood:	n/a	n/a
11	POLR2A	chr4:174253021-174256974	HepG2	liver:	n/a	n/a
12	MXI1	chr4:174253587-174253858	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:174253357-174256869	PANC-1	pancreas:	n/a	n/a
14	HEY1	chr4:174253067-174256860	K562	blood:	n/a	n/a
15	POLR2A	chr4:174253253-174257499	MCF10A-Er-Src	breast:	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	CHD1	chr4:174253358-174254816	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr4:174253126-174253661	MCF-7	breast:	n/a	n/a
20	POLR2A	chr4:174252651-174256931	GM12891	blood:	n/a	n/a
21	JUND	chr4:174253643-174254878	K562	blood:	n/a	chr4:174254535-174254544
22	MXI1	chr4:174253466-174253718	K562	blood:	n/a	n/a
23	JUN	chr4:174253271-174253793	K562	blood:	n/a	n/a
24	CEBPB	chr4:174253236-174253758	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr4:174253468-174256959	K562	blood:	n/a	n/a
26	PRDM1	chr4:174252882-174254255	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr4:174253156-174256905	K562	blood:	n/a	n/a
28	CHD1	chr4:174253113-174255678	IMR90	lung:	n/a	n/a
29	POLR2A	chr4:174253225-174253868	MCF10A-Er-Src	breast:	n/a	n/a
30	CREB1	chr4:174253347-174253802	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:174252986-174256976	K562	blood:	n/a	n/a
32	POLR2A	chr4:174253467-174253666	Hela-S3	cervix:	n/a	n/a
33	ZNF263	chr4:174253080-174253700	HEK293-T-REx	kidney:	n/a	chr4:174253294-174253315 chr4:174253270-174253291
34	POLR2A	chr4:174253114-174253689	PANC-1	pancreas:	n/a	n/a
35	CREB1	chr4:174253379-174253893	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:174253016-174253729	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:174252672-174256735	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:174252970-174254926	U87	brain:	n/a	n/a
39	ZMIZ1	chr4:174253527-174254438	K562	blood:	n/a	n/a
40	POLR2A	chr4:174252907-174254940	U87	brain:	n/a	n/a
41	POLR2A	chr4:174253552-174256858	GM18951	blood:	n/a	n/a
42	CEBPB	chr4:174253298-174253710	IMR90	lung:	n/a	n/a
43	POLR2A	chr4:174253109-174256789	GM18505	blood:	n/a	n/a
44	POLR2A	chr4:174253016-174256826	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr4:174253193-174257171	Hela-S3	cervix:	n/a	n/a
46	TBP	chr4:174253490-174253859	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:174253123-174256907	GM19099	blood:	n/a	n/a
48	POLR2A	chr4:174253053-174254731	A549	lung:	n/a	n/a
49	POLR2A	chr4:174252923-174254926	U87	brain:	n/a	n/a

No data

(count:11 , 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	chr4:174253388..174255734-chr4:174320539..174323708,3	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	chr4:174253487..174255950-chr4:174341236..174343023,2	MCF-7	breast:
10	chr4:174248778..174262653-chr4:174278408..174298501,82	K562	blood:
11	chr4:174168542..174170640-chr4:174252148..174254186,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248774	TF binding region
ENSG00000109586	Chromatin interaction
ENSG00000272870	Chromatin interaction
ENSG00000164105	Chromatin interaction
ENSG00000242882	Chromatin interaction
ENSG00000164106	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]
rs73005353	1.00[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]
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:127 , 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	chr4:174231200-174254000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:174236000-174253800	Weak transcription	Right Ventricle	heart
4	chr4:174237400-174254200	Weak transcription	Ovary	ovary
5	chr4:174237600-174254000	Weak transcription	Esophagus	oesophagus
6	chr4:174237600-174254400	Weak transcription	Pancreas	Pancrea
7	chr4:174238400-174254400	Weak transcription	Lung	lung
8	chr4:174240400-174253800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:174241200-174254000	Weak transcription	HSMMtube	muscle
10	chr4:174244000-174254000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr4:174244000-174254000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:174245800-174254400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:174247200-174253800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:174247200-174254000	Weak transcription	Spleen	Spleen
15	chr4:174247200-174254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:174249400-174253800	Strong transcription	Placenta	Placenta
17	chr4:174250000-174254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:174250800-174254000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:174251000-174254600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
20	chr4:174251400-174254000	Active TSS	Thymus	Thymus
21	chr4:174251400-174254800	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr4:174251600-174254800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:174251800-174254200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:174252600-174253800	Active TSS	Primary B cells from cord blood	blood
25	chr4:174252600-174254400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:174252600-174254400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:174252600-174254400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
28	chr4:174252600-174254800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:174252600-174254800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
30	chr4:174252600-174254800	Transcr. at gene 5' and 3'	K562	blood
31	chr4:174252800-174253800	Transcr. at gene 5' and 3'	HepG2	liver
32	chr4:174252800-174254200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:174252800-174254200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:174252800-174254400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:174252800-174254400	Transcr. at gene 5' and 3'	HMEC	breast
36	chr4:174252800-174254400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
37	chr4:174253000-174253800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:174253000-174253800	Genic enhancers	Brain Anterior Caudate	brain
39	chr4:174253000-174253800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
40	chr4:174253000-174254000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:174253000-174254000	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
42	chr4:174253000-174254200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:174253000-174254200	Transcr. at gene 5' and 3'	Fetal Heart	heart
44	chr4:174253000-174254200	Transcr. at gene 5' and 3'	Fetal Lung	lung
45	chr4:174253000-174254200	Transcr. at gene 5' and 3'	Osteobl	bone
46	chr4:174253000-174254400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr4:174253000-174254400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:174253000-174254400	Transcr. at gene 5' and 3'	A549	lung
49	chr4:174253000-174254400	Transcr. at gene 5' and 3'	Hela-S3	cervix
50	chr4:174253000-174254600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell

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