Variant report

Variant	rs73608381
Chromosome Location	chr19:36909626-36909627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr19:36909505-36909711	GM12878	blood:	n/a	n/a
2	MYC	chr19:36909519-36909719	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr19:36909310-36909889	SK-N-SH	brain:	n/a	n/a
4	HMGN3	chr19:36909255-36909880	K562	blood:	n/a	n/a
5	E2F6	chr19:36909345-36909906	H1-hESC	embryonic stem cell:	n/a	chr19:36909599-36909609 chr19:36909597-36909606 chr19:36909718-36909733
6	E2F6	chr19:36908594-36910011	H1-hESC	embryonic stem cell:	n/a	chr19:36909599-36909609 chr19:36909597-36909606 chr19:36909718-36909733
7	EBF1	chr19:36909506-36909763	GM12878	blood:	n/a	chr19:36909611-36909622
8	POLR2A	chr19:36909030-36909854	GM12878	blood:	n/a	n/a
9	HEY1	chr19:36909316-36909790	K562	blood:	n/a	chr19:36909712-36909727
10	ELF1	chr19:36909344-36909675	K562	blood:	n/a	n/a
11	POLR2A	chr19:36909063-36909920	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAZ	chr19:36909435-36909718	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:36909341-36909828	Hela-S3	cervix:	n/a	n/a
14	TAF1	chr19:36909259-36909832	A549	lung:	n/a	n/a
15	PML	chr19:36909192-36909660	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:36909298-36909786	HL-60	blood:	n/a	n/a
17	POLR2A	chr19:36909117-36910017	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr19:36909349-36909814	K562	blood:	n/a	n/a
19	POLR2A	chr19:36909285-36909836	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:36909226-36909900	SK-N-SH	brain:	n/a	n/a
21	MAX	chr19:36908512-36909936	K562	blood:	n/a	n/a
22	POLR2A	chr19:36909354-36909820	K562	blood:	n/a	n/a
23	MAX	chr19:36908607-36909821	GM12878	blood:	n/a	n/a
24	TAF1	chr19:36909489-36909796	K562	blood:	n/a	n/a
25	POU2F2	chr19:36909284-36909733	GM12878	blood:	n/a	chr19:36909565-36909577
26	MAX	chr19:36909286-36909872	Hela-S3	cervix:	n/a	n/a
27	MAX	chr19:36908910-36909909	HepG2	liver:	n/a	n/a
28	FOXP2	chr19:36909176-36909904	PFSK-1	brain:	n/a	n/a
29	EBF1	chr19:36909365-36909802	GM12878	blood:	n/a	chr19:36909611-36909622
30	POLR2A	chr19:36909166-36909944	PANC-1	pancreas:	n/a	n/a
31	E2F6	chr19:36908711-36909812	K562	blood:	n/a	chr19:36909599-36909609 chr19:36909597-36909606 chr19:36909718-36909733
32	ZNF143	chr19:36909364-36909832	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAZ	chr19:36908601-36910028	IMR90	lung:	n/a	n/a
34	POLR2A	chr19:36909347-36909857	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr19:36908795-36909953	HepG2	liver:	n/a	n/a
36	NRF1	chr19:36909231-36910321	SK-N-SH	brain:	n/a	chr19:36909596-36909605 chr19:36909596-36909610 chr19:36909593-36909607 chr19:36909596-36909607
37	TAF1	chr19:36909378-36909799	HepG2	liver:	n/a	n/a
38	MAX	chr19:36908588-36910199	A549	lung:	n/a	n/a
39	POLR2A	chr19:36909268-36909880	ECC-1	luminal epithelium:	n/a	n/a
40	IRF1	chr19:36909547-36909698	K562	blood:	n/a	n/a
41	POLR2A	chr19:36909298-36909890	HepG2	liver:	n/a	n/a
42	ZNF143	chr19:36909331-36909787	GM12878	blood:	n/a	n/a
43	CREB1	chr19:36908976-36909834	HepG2	liver:	n/a	n/a
44	BACH1	chr19:36909044-36909727	H1-hESC	embryonic stem cell:	n/a	n/a
45	TBP	chr19:36909094-36909815	K562	blood:	n/a	n/a
46	RCOR1	chr19:36908014-36910259	IMR90	lung:	n/a	n/a
47	MXI1	chr19:36909459-36909778	HepG2	liver:	n/a	n/a
48	MAX	chr19:36908789-36909859	SK-N-SH	brain:	n/a	n/a
49	REST	chr19:36908887-36910110	H1-neurons	neurons:	n/a	chr19:36909264-36909284 chr19:36909182-36909195
50	POLR2A	chr19:36909171-36909850	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36909606-36909656	GM19239	blood:	n/a
2	chr19:36909606-36909656	H1-hESC	embryonic stem cell:	embryo
3	chr19:36909606-36909656	HEEpiC	esophagus:	n/a
4	chr19:36909606-36909656	MCF10A-Er-Src	breast:	n/a
5	chr19:36909606-36909656	GM06990	blood:	n/a
6	chr19:36909606-36909656	SKMC	muscle:	n/a
7	chr19:36909606-36909656	ECC-1	luminal epithelium:	n/a
8	chr19:36909606-36909656	AG09309	skin:	n/a
9	chr19:36909606-36909656	BE2_C	brain:	n/a
10	chr19:36909606-36909656	AG04450	lung:	fetal
11	chr19:36909606-36909656	Hepatocyte	liver:	n/a
12	chr19:36909606-36909656	Caco-2	colon:	n/a
13	chr19:36909606-36909656	RPTEC	kidney:	n/a
14	chr19:36909606-36909656	HUVEC	blood vessel:	n/a
15	chr19:36909606-36909656	PANC-1	pancreas:	n/a
16	chr19:36909606-36909656	AG04449	skin:	fetal
17	chr19:36909606-36909656	IMR90	lung:	fetal
18	chr19:36909606-36909656	NT2-D1	testis:	n/a
19	chr19:36909606-36909656	K562	blood:	n/a
20	chr19:36909606-36909656	SK-N-SH	brain:	n/a
21	chr19:36909606-36909656	HL-60	blood:	n/a
22	chr19:36909606-36909656	Jurkat	blood:	n/a
23	chr19:36909606-36909656	HRE	kidney:	n/a
24	chr19:36909606-36909656	AG09319	gingival:	n/a
25	chr19:36909606-36909656	A549	lung:	n/a
26	chr19:36909606-36909656	LNCaP	prostate:	n/a
27	chr19:36909606-36909656	SK-N-MC	brain:	n/a
28	chr19:36909606-36909656	T-47D	breast:	n/a
29	chr19:36909606-36909656	AoSMC	blood vessel:	n/a
30	chr19:36909606-36909656	ovcar-3	ovarian:	n/a
31	chr19:36909606-36909656	HepG2	liver:	n/a
32	chr19:36909606-36909656	GM12891	blood:	n/a
33	chr19:36909606-36909656	HCF	heart:	n/a
34	chr19:36909606-36909656	HNPCEpiC	eye:	n/a
35	chr19:36909606-36909656	NHBE	bronchial:	n/a
36	chr19:36909606-36909656	U87	brain:	n/a
37	chr19:36909606-36909656	NH-A	brain:	n/a
38	chr19:36909606-36909656	HRPEpiC	eye:	n/a
39	chr19:36909606-36909656	MCF-7	breast:	n/a
40	chr19:36909606-36909656	SK-N-SH_RA	brain:	n/a
41	chr19:36909606-36909656	PrEC	prostate:	n/a
42	chr19:36909606-36909656	GM12892	blood:	n/a
43	chr19:36909606-36909656	AG10803	skin:	n/a
44	chr19:36909606-36909656	HMEC	breast:	n/a
45	chr19:36909606-36909656	BJ	skin:	n/a
46	chr19:36909606-36909656	HCT-116	colon:	n/a
47	chr19:36909606-36909656	PFSK-1	brain:	n/a
48	chr19:36909606-36909656	CMK	blood:	n/a
49	chr19:36909606-36909656	SAEC	small airway:	n/a
50	chr19:36909606-36909656	NB4	blood:	n/a

No data

Variant related genes	Relation type
ZFP82	TF binding region
ENSG00000267142	TF binding region
ENSG00000267142	CpG island
ZFP82	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16971042	0.91[AFR][1000 genomes]
rs16971046	0.84[AFR][1000 genomes]
rs17464619	0.91[AFR][1000 genomes]
rs2385798	0.87[AFR][1000 genomes]
rs2891870	0.87[AFR][1000 genomes]
rs56854596	0.88[AFR][1000 genomes]
rs57085758	0.81[AFR][1000 genomes]
rs59953432	0.95[AFR][1000 genomes]
rs60043543	0.81[AFR][1000 genomes]
rs7254161	0.87[AFR][1000 genomes]
rs73602361	0.86[AFR][1000 genomes]
rs73602365	0.86[AFR][1000 genomes]
rs73602375	0.86[AFR][1000 genomes]
rs73606471	0.88[AFR][1000 genomes]
rs73606491	0.88[AFR][1000 genomes]
rs73608310	0.88[AFR][1000 genomes]
rs73608312	0.88[AFR][1000 genomes]
rs73608349	0.93[AFR][1000 genomes]
rs73608364	0.97[AFR][1000 genomes]
rs73614529	0.97[AFR][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	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1066026	chr19:36878441-36947928	ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1067101	chr19:36901010-36956251	ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 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	chr19:36907800-36910000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:36908000-36909800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:36908000-36909800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:36908000-36910000	Active TSS	K562	blood
5	chr19:36908200-36909800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:36908200-36910000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr19:36908200-36910000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:36908200-36910000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr19:36908200-36910000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:36908200-36910000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:36908200-36910000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr19:36908200-36910000	Active TSS	Ovary	ovary
13	chr19:36908200-36910000	Active TSS	Psoas Muscle	Psoas
14	chr19:36908200-36910000	Active TSS	HepG2	liver
15	chr19:36908200-36910200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:36908200-36910200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr19:36908200-36910200	ZNF genes & repeats	Liver	Liver
18	chr19:36908200-36910200	Active TSS	NHLF	lung
19	chr19:36908400-36910000	Active TSS	Fetal Intestine Large	intestine
20	chr19:36908400-36910000	Active TSS	Fetal Kidney	kidney
21	chr19:36908400-36910000	Active TSS	Gastric	stomach
22	chr19:36908400-36910200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:36908400-36910200	Active TSS	NHDF-Ad	bronchial
24	chr19:36908600-36909800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:36908600-36909800	Active TSS	Brain Anterior Caudate	brain
26	chr19:36908600-36910000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:36908600-36910000	Active TSS	Hela-S3	cervix
28	chr19:36908600-36910200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr19:36908800-36909800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:36908800-36909800	Active TSS	Small Intestine	intestine
31	chr19:36908800-36910000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:36908800-36910000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr19:36908800-36910000	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr19:36908800-36910000	Active TSS	Aorta	Aorta
35	chr19:36908800-36910000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr19:36908800-36910000	Active TSS	Brain Substantia Nigra	brain
37	chr19:36908800-36910000	Active TSS	Fetal Lung	lung
38	chr19:36908800-36910000	Active TSS	GM12878-XiMat	blood
39	chr19:36908800-36910200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:36908800-36910200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:36908800-36910200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:36908800-36910200	Active TSS	Brain Angular Gyrus	brain
43	chr19:36908800-36910200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:36908800-36910200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr19:36908800-36910200	Active TSS	HSMM	muscle
46	chr19:36908800-36910200	Active TSS	HSMMtube	muscle
47	chr19:36908800-36910200	Active TSS	NH-A	brain
48	chr19:36908800-36910400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:36908800-36910400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:36909000-36909800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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