Variant report

Variant	rs4803032
Chromosome Location	chr19:53494855-53494856
allele	C/T
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	TBP	chr19:53494462-53495062	Hela-S3	cervix:	n/a	n/a
2	FOSL2	chr19:53494828-53495162	MCF-7	breast:	n/a	chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
3	FOS	chr19:53494454-53495174	MCF10A-Er-Src	breast:	n/a	chr19:53495022-53495033 chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
4	POLR2A	chr19:53494849-53495029	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr19:53494610-53495208	SK-N-SH	brain:	n/a	chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031 chr19:53495022-53495033
6	MYC	chr19:53494385-53495065	MCF10A-Er-Src	breast:	n/a	chr19:53495023-53495032
7	GATA2	chr19:53494808-53495295	HUVEC	blood vessel:	n/a	chr19:53494931-53494940 chr19:53495025-53495034
8	POLR2A	chr19:53494703-53495098	PANC-1	pancreas:	n/a	n/a
9	MYC	chr19:53494834-53494967	HUVEC	blood vessel:	n/a	n/a
10	FOSL2	chr19:53494620-53495241	SK-N-SH	brain:	n/a	chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
11	GATA3	chr19:53494843-53495074	T-47D	breast:	n/a	chr19:53494931-53494940 chr19:53495025-53495034
12	POLR2A	chr19:53494643-53495232	HUVEC	blood vessel:	n/a	n/a
13	JUN	chr19:53494809-53495190	Hela-S3	cervix:	n/a	chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
14	FOS	chr19:53494801-53495218	MCF10A-Er-Src	breast:	n/a	chr19:53495022-53495033 chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
15	FOS	chr19:53494349-53495188	MCF10A-Er-Src	breast:	n/a	chr19:53495022-53495033 chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
16	E2F4	chr19:53494372-53495044	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr19:53494377-53495182	MCF10A-Er-Src	breast:	n/a	chr19:53495022-53495033 chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
18	USF2	chr19:53494825-53495016	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr19:53494473-53494915	Hela-S3	cervix:	n/a	n/a
20	JUND	chr19:53494636-53496456	SK-N-SH	brain:	n/a	chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031 chr19:53495022-53495033
21	POLR2A	chr19:53494823-53494977	HUVEC	blood vessel:	n/a	n/a
22	TCF7L2	chr19:53493940-53495056	Hela-S3	cervix:	n/a	chr19:53494932-53494941
23	GATA3	chr19:53494676-53495371	MCF-7	breast:	n/a	chr19:53494931-53494940 chr19:53495025-53495034
24	POLR2A	chr19:53494830-53495030	MCF10A-Er-Src	breast:	n/a	n/a
25	MYC	chr19:53494346-53495075	MCF10A-Er-Src	breast:	n/a	chr19:53495023-53495032
26	STAT3	chr19:53494347-53495066	MCF10A-Er-Src	breast:	n/a	chr19:53495023-53495032 chr19:53495036-53495044 chr19:53495024-53495033
27	STAT3	chr19:53494815-53495048	MCF10A-Er-Src	breast:	n/a	chr19:53495023-53495032 chr19:53495036-53495044 chr19:53495024-53495033
28	FOSL1	chr19:53494659-53495194	HCT-116	colon:	n/a	chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
29	TFAP2C	chr19:53494561-53495129	Hela-S3	cervix:	n/a	n/a
30	FOS	chr19:53494660-53495306	HUVEC	blood vessel:	n/a	chr19:53495022-53495033 chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
31	FOSL2	chr19:53494775-53495174	MCF-7	breast:	n/a	chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
32	JUND	chr19:53494428-53495237	Hela-S3	cervix:	n/a	chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031 chr19:53495022-53495033
33	FOS	chr19:53494823-53495124	Hela-S3	cervix:	n/a	chr19:53495022-53495033 chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
34	STAT3	chr19:53494819-53495106	MCF10A-Er-Src	breast:	n/a	chr19:53495023-53495032 chr19:53495036-53495044 chr19:53495024-53495033
35	CEBPB	chr19:53494277-53495058	Hela-S3	cervix:	n/a	chr19:53494449-53494460
36	JUN	chr19:53494763-53495194	HUVEC	blood vessel:	n/a	chr19:53494932-53494942 chr19:53495024-53495033 chr19:53494936-53494944 chr19:53494932-53494942 chr19:53495024-53495032 chr19:53495024-53495031
37	POLR2A	chr19:53494662-53495570	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
ZNF702P	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11669722	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1583962	1.00[ASN][1000 genomes]
rs1867054	0.87[ASN][1000 genomes]
rs4803031	0.99[ASN][1000 genomes]
rs73068742	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv432072	chr19:53144788-53554388	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1067280	chr19:53193570-53567287	Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv544062	chr19:53193570-53567287	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv580030	chr19:53194344-53547394	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	esv2758506	chr19:53410459-53652575	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	esv2758769	chr19:53410459-53652575	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv428370	chr19:53410459-53652575	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	esv2757701	chr19:53470514-53554240	Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv34546	chr19:53478109-53509688	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv817861	chr19:53484032-53505860	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv458753	chr19:53485090-53552296	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv458754	chr19:53485090-53552296	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv580046	chr19:53485090-53552296	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53467200-53495400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:53472800-53495800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr19:53473600-53495800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:53474000-53495800	Weak transcription	Fetal Lung	lung
5	chr19:53481200-53495400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr19:53488200-53495800	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:53489200-53495800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:53489800-53495200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:53489800-53495800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:53490000-53495400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:53490000-53495800	Weak transcription	Brain Anterior Caudate	brain
12	chr19:53490200-53495200	Weak transcription	Colonic Mucosa	Colon
13	chr19:53490200-53495200	Weak transcription	Gastric	stomach
14	chr19:53490200-53495400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:53490200-53495400	Weak transcription	Fetal Stomach	stomach
16	chr19:53490200-53495400	Weak transcription	Pancreas	Pancrea
17	chr19:53490200-53495400	Weak transcription	Spleen	Spleen
18	chr19:53490200-53495800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:53490600-53495200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:53490800-53495200	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:53490800-53495200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr19:53490800-53495200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:53490800-53495400	Weak transcription	Fetal Intestine Small	intestine
24	chr19:53490800-53495800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:53490800-53495800	Weak transcription	Dnd41	blood
26	chr19:53491000-53495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:53491000-53495200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:53491000-53495200	Weak transcription	Right Ventricle	heart
29	chr19:53491000-53495400	Weak transcription	Adipose Nuclei	Adipose
30	chr19:53492200-53495400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr19:53492400-53495400	Weak transcription	Left Ventricle	heart
32	chr19:53492400-53495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:53492600-53495200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr19:53493000-53495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:53493000-53495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:53493000-53495400	Weak transcription	Ovary	ovary
37	chr19:53493000-53495800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:53493000-53495800	Weak transcription	Aorta	Aorta
39	chr19:53493000-53495800	Weak transcription	Fetal Intestine Large	intestine
40	chr19:53493000-53495800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:53493200-53495200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:53493200-53495400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr19:53493200-53495800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:53493400-53495200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:53493400-53495600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:53493400-53495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:53493600-53496400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr19:53494000-53495600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
49	chr19:53494000-53495600	Enhancers	Placenta	Placenta
50	chr19:53494200-53495200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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