Variant report

Variant	rs73073015
Chromosome Location	chr3:49503166-49503167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr3:49503014-49503405	K562	blood:	n/a	n/a
2	JUN	chr3:49502801-49503379	K562	blood:	n/a	n/a
3	MAZ	chr3:49503111-49503222	Hela-S3	cervix:	n/a	n/a
4	MYBL2	chr3:49502542-49503721	HepG2	liver:	n/a	n/a
5	MAZ	chr3:49503086-49503381	K562	blood:	n/a	n/a
6	NR2F2	chr3:49503052-49503355	K562	blood:	n/a	n/a
7	JUND	chr3:49502718-49503462	K562	blood:	n/a	chr3:49502894-49502905
8	GATA1	chr3:49502842-49503622	K562	blood:	n/a	n/a
9	CEBPB	chr3:49502317-49503378	Hela-S3	cervix:	n/a	chr3:49502814-49502825
10	POLR2A	chr3:49502932-49503866	HepG2	liver:	n/a	n/a
11	CEBPB	chr3:49502233-49503281	HCT-116	colon:	n/a	chr3:49502814-49502825
12	BHLHE40	chr3:49502916-49503418	K562	blood:	n/a	n/a
13	EP300	chr3:49503048-49503745	HepG2	liver:	n/a	n/a
14	POLR2A	chr3:49502920-49503532	HepG2	liver:	n/a	n/a
15	TEAD4	chr3:49503018-49503428	K562	blood:	n/a	n/a
16	MAX	chr3:49503038-49503393	K562	blood:	n/a	n/a
17	HMGN3	chr3:49503132-49503460	K562	blood:	n/a	n/a
18	UBTF	chr3:49503045-49503313	K562	blood:	n/a	n/a
19	EP300	chr3:49502991-49503450	K562	blood:	n/a	n/a
20	HEY1	chr3:49502866-49503443	HepG2	liver:	n/a	n/a
21	TBP	chr3:49503008-49503877	HepG2	liver:	n/a	n/a
22	MAX	chr3:49503062-49503422	K562	blood:	n/a	n/a
23	EP300	chr3:49502646-49503940	HepG2	liver:	n/a	n/a
24	CEBPD	chr3:49502722-49503537	K562	blood:	n/a	n/a
25	RFX5	chr3:49503023-49503772	HepG2	liver:	n/a	n/a
26	ZMIZ1	chr3:49503152-49503367	K562	blood:	n/a	n/a
27	STAT3	chr3:49503040-49503215	MCF10A-Er-Src	breast:	n/a	chr3:49503191-49503199
28	TEAD4	chr3:49502945-49503491	K562	blood:	n/a	n/a
29	STAT3	chr3:49503015-49503280	MCF10A-Er-Src	breast:	n/a	chr3:49503191-49503199
30	CEBPB	chr3:49502230-49503324	HCT-116	colon:	n/a	chr3:49502814-49502825
31	POLR2A	chr3:49502865-49503469	HepG2	liver:	n/a	n/a
32	CEBPB	chr3:49502362-49503252	K562	blood:	n/a	chr3:49502814-49502825
33	SPI1	chr3:49503020-49503294	K562	blood:	n/a	n/a
34	GATA1	chr3:49502962-49503606	PBDE	blood:	n/a	n/a
35	ZNF384	chr3:49502392-49503415	K562	blood:	n/a	n/a
36	POLR2A	chr3:49502984-49503325	K562	blood:	n/a	n/a
37	ZNF263	chr3:49503131-49503516	HEK293-T-REx	kidney:	n/a	chr3:49503318-49503327
38	MYC	chr3:49503045-49503426	K562	blood:	n/a	n/a
39	STAT5A	chr3:49503033-49503491	K562	blood:	n/a	chr3:49503428-49503440 chr3:49503191-49503199
40	GATA2	chr3:49503059-49503464	K562	blood:	n/a	n/a
41	CEBPB	chr3:49502342-49503428	HepG2	liver:	n/a	chr3:49502814-49502825
42	HDAC2	chr3:49503112-49503388	K562	blood:	n/a	n/a
43	HDAC2	chr3:49503075-49503288	K562	blood:	n/a	n/a
44	JUND	chr3:49502738-49503326	HepG2	liver:	n/a	chr3:49502894-49502905
45	MYBL2	chr3:49502770-49503464	HepG2	liver:	n/a	n/a
46	POLR2A	chr3:49503010-49503520	HepG2	liver:	n/a	n/a
47	POLR2A	chr3:49503011-49503381	K562	blood:	n/a	n/a
48	HEY1	chr3:49502899-49503840	HepG2	liver:	n/a	n/a
49	CEBPD	chr3:49503045-49503409	K562	blood:	n/a	n/a
50	RCOR1	chr3:49502807-49503523	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49503012..49504721-chr3:49506646..49509185,2	MCF-7	breast:
2	chr3:49501861..49505109-chr3:49505439..49508808,5	K562	blood:

Variant related genes	Relation type
DAG1	TF binding region
ENSG00000173402	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11716159	0.86[AMR][1000 genomes]
rs11716445	0.93[AMR][1000 genomes]
rs55873331	0.86[AMR][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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs73073015	WDR6	cis	Whole Blood	GTEx
rs73073015	WDR6	cis	Esophagus Mucosa	GTEx
rs73073015	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs73073015	WDR6	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49490600-49506600	Enhancers	Fetal Muscle Leg	muscle
2	chr3:49491800-49506200	Enhancers	Placenta	Placenta
3	chr3:49497400-49506400	Weak transcription	Brain Germinal Matrix	brain
4	chr3:49498000-49506000	Weak transcription	Fetal Stomach	stomach
5	chr3:49499600-49503200	Weak transcription	Esophagus	oesophagus
6	chr3:49499600-49503200	Weak transcription	Lung	lung
7	chr3:49499600-49503200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:49499600-49506600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:49500000-49503400	Weak transcription	Small Intestine	intestine
10	chr3:49500000-49504800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:49500000-49505600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:49500000-49505600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:49500000-49506200	Weak transcription	Adipose Nuclei	Adipose
14	chr3:49500000-49506400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:49500000-49506400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:49500000-49506400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:49500000-49506400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:49500000-49506400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:49500000-49506400	Weak transcription	Psoas Muscle	Psoas
20	chr3:49500000-49506400	Weak transcription	NH-A	brain
21	chr3:49500000-49506400	Weak transcription	NHDF-Ad	bronchial
22	chr3:49500000-49506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:49501400-49503200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:49501400-49506600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:49502200-49506600	Enhancers	Fetal Muscle Trunk	muscle
26	chr3:49502400-49503400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:49502400-49503600	Enhancers	NHEK	skin
28	chr3:49502400-49503800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:49502400-49504000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:49502400-49506400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:49502600-49503400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:49502600-49503800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:49502600-49506800	Enhancers	Fetal Heart	heart
34	chr3:49502800-49503600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:49502800-49503600	Enhancers	Fetal Intestine Large	intestine
36	chr3:49502800-49503600	Flanking Active TSS	Hela-S3	cervix
37	chr3:49502800-49503800	Flanking Active TSS	HepG2	liver
38	chr3:49502800-49504000	Enhancers	Fetal Intestine Small	intestine
39	chr3:49502800-49505200	Enhancers	Pancreas	Pancrea
40	chr3:49503000-49503400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr3:49503000-49503400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:49503000-49503400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:49503000-49503400	Enhancers	Colonic Mucosa	Colon
44	chr3:49503000-49503400	Enhancers	A549	lung
45	chr3:49503000-49503400	Flanking Active TSS	K562	blood
46	chr3:49503000-49503400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr3:49503000-49503600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr3:49503000-49503600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:49503000-49503600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:49503000-49503600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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