Variant report

Variant	rs73939607
Chromosome Location	chr19:45579947-45579948
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	POLR2A	chr19:45579445-45580001	GM10847	blood:	n/a	n/a
2	MAX	chr19:45579262-45580013	ECC-1	luminal epithelium:	n/a	chr19:45579758-45579769
3	TCF12	chr19:45579356-45580028	ECC-1	luminal epithelium:	n/a	n/a
4	MAFK	chr19:45579737-45580009	Hela-S3	cervix:	n/a	n/a
5	MAX	chr19:45578585-45580233	HCT-116	colon:	n/a	chr19:45578784-45578794 chr19:45579758-45579769
6	MYC	chr19:45579605-45580024	H1-hESC	embryonic stem cell:	n/a	chr19:45579758-45579769
7	MAX	chr19:45578763-45580210	A549	lung:	n/a	chr19:45578784-45578794 chr19:45579758-45579769
8	RCOR1	chr19:45579344-45579997	GM12878	blood:	n/a	n/a
9	TCF12	chr19:45579627-45579955	GM12878	blood:	n/a	n/a
10	MYC	chr19:45578562-45580050	K562	blood:	n/a	chr19:45578584-45578594 chr19:45578784-45578794 chr19:45579758-45579769
11	MAZ	chr19:45579540-45579974	Hela-S3	cervix:	n/a	chr19:45579758-45579769
12	IRF1	chr19:45579608-45580076	K562	blood:	n/a	chr19:45579779-45579793
13	POLR2A	chr19:45579372-45580164	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr19:45579538-45580094	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:45579488-45580047	GM12892	blood:	n/a	n/a
16	MAX	chr19:45579292-45580093	HepG2	liver:	n/a	chr19:45579758-45579769
17	HEY1	chr19:45579490-45579955	K562	blood:	n/a	n/a
18	MAFK	chr19:45579833-45580004	HepG2	liver:	n/a	n/a
19	SMC3	chr19:45579797-45579982	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:45578795-45580011	HL-60	blood:	n/a	n/a
21	POLR2A	chr19:45579575-45579982	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr19:45578543-45580059	MCF-7	breast:	n/a	n/a
23	POLR2A	chr19:45579446-45579990	GM12891	blood:	n/a	n/a
24	NR2F2	chr19:45579653-45580028	K562	blood:	n/a	n/a
25	E2F4	chr19:45579692-45579983	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr19:45579544-45580074	HCT-116	colon:	n/a	n/a
27	POLR2A	chr19:45577603-45580103	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:45579552-45580014	K562	blood:	n/a	n/a
29	MAX	chr19:45578350-45580299	HCT-116	colon:	n/a	chr19:45578584-45578594 chr19:45578784-45578794 chr19:45579758-45579769
30	MAX	chr19:45579650-45579995	H1-hESC	embryonic stem cell:	n/a	chr19:45579758-45579769
31	POLR2A	chr19:45578348-45580062	GM12892	blood:	n/a	n/a
32	POLR2A	chr19:45577671-45580257	GM12891	blood:	n/a	n/a
33	CREB1	chr19:45579283-45579999	A549	lung:	n/a	n/a
34	HEY1	chr19:45579566-45579975	HepG2	liver:	n/a	n/a
35	MAX	chr19:45579492-45579950	K562	blood:	n/a	chr19:45579758-45579769
36	POLR2A	chr19:45578438-45580287	Raji	blood:	n/a	n/a
37	POLR2A	chr19:45578396-45580063	GM12878	blood:	n/a	n/a
38	RELA	chr19:45578041-45580056	GM12891	blood:	n/a	n/a
39	RCOR1	chr19:45579604-45580003	K562	blood:	n/a	n/a
40	POLR2A	chr19:45579556-45580037	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:45579466-45580013	K562	blood:	n/a	n/a
42	HCFC1	chr19:45579148-45580287	Hela-S3	cervix:	n/a	n/a
43	MYC	chr19:45578818-45580669	A549	lung:	n/a	chr19:45579758-45579769
44	MAZ	chr19:45579581-45580070	GM12878	blood:	n/a	chr19:45579758-45579769
45	POLR2A	chr19:45578778-45580015	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:45579514-45580063	K562	blood:	n/a	n/a
47	POLR2A	chr19:45578089-45580046	GM19193	blood:	n/a	n/a
48	YY1	chr19:45579303-45579983	K562	blood:	n/a	n/a
49	CEBPD	chr19:45579480-45579994	HepG2	liver:	n/a	n/a
50	POLR2A	chr19:45579473-45579969	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45578352..45580821-chr19:45679388..45681588,2	K562	blood:
2	chr19:45457525..45459638-chr19:45578724..45580508,2	K562	blood:
3	chr19:45540857..45546067-chr19:45577972..45584351,9	K562	blood:
4	chr19:45543123..45546067-chr19:45577972..45580027,3	K562	blood:
5	chr19:45578752..45581044-chr19:45640644..45642506,2	MCF-7	breast:
6	chr19:45576842..45580642-chr19:45581354..45584198,7	K562	blood:
7	chr19:45578126..45585691-chr19:45599620..45604032,8	MCF-7	breast:
8	chr19:45503584..45506376-chr19:45577554..45581342,5	K562	blood:
9	chr19:45576986..45585099-chr19:45592126..45598719,16	MCF-7	breast:
10	chr19:45577323..45580902-chr19:45580931..45584945,6	K562	blood:
11	chr19:45577259..45585589-chr19:45592358..45603656,27	K562	blood:
12	chr19:45541281..45543928-chr19:45579124..45582135,3	MCF-7	breast:
13	chr19:45576493..45586900-chr19:45588536..45604492,49	MCF-7	breast:

Variant related genes	Relation type
MARK4	TF binding region
ZNF296	TF binding region
GEMIN7	TF binding region
ENSG00000104866	Chromatin interaction
ENSG00000142252	Chromatin interaction
ENSG00000007047	Chromatin interaction
ENSG00000104859	Chromatin interaction
ENSG00000104853	Chromatin interaction
ENSG00000007255	Chromatin interaction
ENSG00000267348	Chromatin interaction
ENSG00000104856	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10402479	1.00[ASN][1000 genomes]
rs10403214	1.00[ASN][1000 genomes]
rs10405306	1.00[ASN][1000 genomes]
rs10405719	1.00[ASN][1000 genomes]
rs10405721	1.00[ASN][1000 genomes]
rs10406911	1.00[ASN][1000 genomes]
rs10408366	1.00[ASN][1000 genomes]
rs10408462	1.00[ASN][1000 genomes]
rs10409138	1.00[ASN][1000 genomes]
rs10409232	1.00[ASN][1000 genomes]
rs10409727	1.00[ASN][1000 genomes]
rs10409903	1.00[ASN][1000 genomes]
rs10410424	1.00[ASN][1000 genomes]
rs10415674	1.00[ASN][1000 genomes]
rs10417101	1.00[ASN][1000 genomes]
rs10417347	1.00[ASN][1000 genomes]
rs10417618	1.00[ASN][1000 genomes]
rs10417804	1.00[ASN][1000 genomes]
rs10419874	1.00[ASN][1000 genomes]
rs10420717	1.00[ASN][1000 genomes]
rs10420824	1.00[ASN][1000 genomes]
rs10421085	1.00[ASN][1000 genomes]
rs10421425	1.00[ASN][1000 genomes]
rs10421932	1.00[ASN][1000 genomes]
rs10422671	1.00[ASN][1000 genomes]
rs10423079	1.00[ASN][1000 genomes]
rs10423555	1.00[ASN][1000 genomes]
rs10424651	1.00[ASN][1000 genomes]
rs10425380	1.00[ASN][1000 genomes]
rs1076384	1.00[ASN][1000 genomes]
rs12459386	1.00[ASN][1000 genomes]
rs12459402	1.00[ASN][1000 genomes]
rs12459945	1.00[ASN][1000 genomes]
rs12461749	1.00[ASN][1000 genomes]
rs13344055	1.00[ASN][1000 genomes]
rs13344075	1.00[ASN][1000 genomes]
rs13345307	1.00[ASN][1000 genomes]
rs1541926	1.00[ASN][1000 genomes]
rs16979688	1.00[ASN][1000 genomes]
rs17562787	1.00[ASN][1000 genomes]
rs17642665	1.00[ASN][1000 genomes]
rs1982077	1.00[ASN][1000 genomes]
rs2003183	1.00[ASN][1000 genomes]
rs2003345	1.00[ASN][1000 genomes]
rs2004356	1.00[ASN][1000 genomes]
rs2011438	1.00[ASN][1000 genomes]
rs2041261	1.00[ASN][1000 genomes]
rs2041263	1.00[ASN][1000 genomes]
rs2043320	1.00[ASN][1000 genomes]
rs2060252	1.00[ASN][1000 genomes]
rs2060253	1.00[ASN][1000 genomes]
rs28404390	1.00[ASN][1000 genomes]
rs28657408	1.00[ASN][1000 genomes]
rs28706378	1.00[ASN][1000 genomes]
rs28719739	1.00[ASN][1000 genomes]
rs35904300	1.00[ASN][1000 genomes]
rs4427916	1.00[ASN][1000 genomes]
rs4608431	1.00[ASN][1000 genomes]
rs4803798	1.00[ASN][1000 genomes]
rs58260098	1.00[ASN][1000 genomes]
rs58600209	1.00[ASN][1000 genomes]
rs58854055	1.00[ASN][1000 genomes]
rs58880456	1.00[ASN][1000 genomes]
rs59240271	1.00[ASN][1000 genomes]
rs60372869	1.00[ASN][1000 genomes]
rs60455813	1.00[ASN][1000 genomes]
rs61531804	1.00[ASN][1000 genomes]
rs7251651	1.00[ASN][1000 genomes]
rs7254138	1.00[ASN][1000 genomes]
rs7257599	1.00[ASN][1000 genomes]
rs7259404	1.00[ASN][1000 genomes]
rs733289	1.00[ASN][1000 genomes]
rs73562250	1.00[ASN][1000 genomes]
rs73562267	1.00[ASN][1000 genomes]
rs73562286	1.00[ASN][1000 genomes]
rs747646	1.00[ASN][1000 genomes]
rs747647	1.00[ASN][1000 genomes]
rs754364	1.00[ASN][1000 genomes]
rs754365	1.00[ASN][1000 genomes]
rs754367	1.00[ASN][1000 genomes]
rs8101046	1.00[ASN][1000 genomes]
rs892133	1.00[ASN][1000 genomes]
rs9653111	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45574800-45581800	Weak transcription	Dnd41	blood
2	chr19:45578000-45580400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:45578000-45580600	Active TSS	Rectal Smooth Muscle	rectum
4	chr19:45578000-45580800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:45578200-45580000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:45578200-45580000	Active TSS	Esophagus	oesophagus
7	chr19:45578200-45580200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr19:45578200-45582000	Weak transcription	HSMMtube	muscle
9	chr19:45578400-45580000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:45578400-45580000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr19:45578400-45580000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:45578400-45580000	Active TSS	GM12878-XiMat	blood
13	chr19:45578400-45580000	Active TSS	NHDF-Ad	bronchial
14	chr19:45578400-45580200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:45578600-45580000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr19:45578600-45580000	Active TSS	HepG2	liver
17	chr19:45578600-45580200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr19:45578600-45580600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr19:45578800-45580000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr19:45578800-45580000	Active TSS	Gastric	stomach
21	chr19:45578800-45580000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr19:45578800-45580200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:45578800-45580200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:45578800-45580200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:45578800-45580200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr19:45578800-45580200	Flanking Active TSS	HUVEC	blood vessel
27	chr19:45578800-45580600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr19:45579000-45580000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:45579000-45580000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:45579000-45580000	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr19:45579000-45580000	Flanking Active TSS	Pancreas	Pancrea
32	chr19:45579000-45580000	Active TSS	Right Atrium	heart
33	chr19:45579000-45580000	Active TSS	Stomach Mucosa	stomach
34	chr19:45579000-45580000	Flanking Active TSS	HMEC	breast
35	chr19:45579000-45580200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:45579000-45580200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr19:45579000-45580200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr19:45579000-45580200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:45579000-45580400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr19:45579000-45580600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr19:45579200-45580000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr19:45579200-45580000	Active TSS	Colon Smooth Muscle	Colon
43	chr19:45579200-45580000	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr19:45579200-45580200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:45579200-45580200	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr19:45579200-45580600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr19:45579200-45580800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:45579400-45580000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:45579400-45580000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:45579400-45580000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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