Variant report

Variant	esv9977
Chromosome Location	chr19:18717041-18717785
allele	n/a
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	CEBPD	chr19:18716724-18717146	HepG2	liver:	n/a	n/a
2	CTCF	chr19:18716865-18717069	HepG2	liver:	n/a	chr19:18716940-18716953 chr19:18716976-18716989
3	CTCF	chr19:18716940-18717090	WERI-Rb-1	eye:	n/a	chr19:18716940-18716953 chr19:18716976-18716989
4	CTCF	chr19:18716960-18717110	HepG2	liver:	n/a	chr19:18716976-18716989
5	CTCF	chr19:18716940-18717090	AG09319	gingival:	n/a	chr19:18716940-18716953 chr19:18716976-18716989
6	GABPA	chr19:18717099-18717439	H1-hESC	embryonic stem cell:	n/a	n/a
7	GABPA	chr19:18716911-18717349	H1-hESC	embryonic stem cell:	n/a	n/a
8	HDAC2	chr19:18716703-18717222	HepG2	liver:	n/a	chr19:18717166-18717185
9	HEY1	chr19:18716781-18717239	HepG2	liver:	n/a	chr19:18717219-18717234 chr19:18716875-18716890 chr19:18716887-18716902 chr19:18716863-18716878
10	HEY1	chr19:18717387-18717965	HepG2	liver:	n/a	n/a
11	HEY1	chr19:18716909-18717268	HepG2	liver:	n/a	chr19:18717219-18717234
12	HEY1	chr19:18717475-18717636	HepG2	liver:	n/a	n/a
13	HNF4A	chr19:18716763-18717157	HepG2	liver:	n/a	chr19:18717013-18717025 chr19:18717011-18717026
14	HNF4A	chr19:18716843-18717191	HepG2	liver:	n/a	chr19:18717013-18717025 chr19:18717011-18717026
15	HNF4G	chr19:18716817-18717093	HepG2	liver:	n/a	chr19:18717013-18717025
16	MAX	chr19:18716141-18717800	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976 chr19:18716668-18716678
17	MAX	chr19:18716950-18717158	HepG2	liver:	n/a	chr19:18716978-18716988 chr19:18716969-18716976
18	MAX	chr19:18716685-18717362	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
19	MAZ	chr19:18716840-18717073	HepG2	liver:	n/a	chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
20	MYC	chr19:18716837-18717194	HepG2	liver:	n/a	chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
21	POLR2A	chr19:18716009-18718542	HepG2	liver:	n/a	n/a
22	POLR2A	chr19:18716895-18717751	HepG2	liver:	n/a	n/a
23	POLR2A	chr19:18717483-18717656	HepG2	liver:	n/a	n/a
24	POLR2A	chr19:18717534-18717678	MCF-7	breast:	n/a	n/a
25	POLR2A	chr19:18716886-18717164	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:18717504-18717710	MCF-7	breast:	n/a	n/a
27	POLR2A	chr19:18716926-18717233	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:18717458-18717648	HCT-116	colon:	n/a	n/a
29	POLR2A	chr19:18717392-18717633	MCF-7	breast:	n/a	n/a
30	POLR2A	chr19:18716943-18717203	HepG2	liver:	n/a	n/a
31	POLR2A	chr19:18717469-18717640	HepG2	liver:	n/a	n/a
32	POLR2A	chr19:18717556-18717583	ProgFib	skin:	n/a	n/a
33	RAD21	chr19:18716839-18717112	HepG2	liver:	n/a	chr19:18717045-18717059
34	SIN3AK20	chr19:18717505-18717636	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr19:18716814-18717085	HepG2	liver:	n/a	n/a
36	SUZ12	chr19:18716967-18717191	H1-hESC	embryonic stem cell:	n/a	n/a
37	TAF1	chr19:18716774-18717319	HepG2	liver:	n/a	n/a
38	TAF1	chr19:18717378-18717731	HepG2	liver:	n/a	n/a
39	TAF1	chr19:18717468-18717678	HepG2	liver:	n/a	n/a
40	YY1	chr19:18716671-18717410	HepG2	liver:	n/a	chr19:18717218-18717232 chr19:18717084-18717095 chr19:18716817-18716831 chr19:18716977-18716986
41	ZBTB7A	chr19:18717181-18717397	HepG2	liver:	n/a	n/a
42	ZBTB7A	chr19:18717721-18718013	ECC-1	luminal epithelium:	n/a	n/a
43	ZBTB7A	chr19:18717735-18717951	HepG2	liver:	n/a	n/a
44	ZBTB7A	chr19:18716765-18717258	ECC-1	luminal epithelium:	n/a	chr19:18716946-18716954 chr19:18716935-18716943
45	ZBTB7A	chr19:18716541-18717420	ECC-1	luminal epithelium:	n/a	chr19:18716546-18716554 chr19:18716946-18716954 chr19:18716935-18716943
46	ZBTB7A	chr19:18716921-18717412	K562	blood:	n/a	chr19:18716946-18716954 chr19:18716935-18716943
47	ZBTB7A	chr19:18717719-18718850	ECC-1	luminal epithelium:	n/a	n/a
48	ZBTB7A	chr19:18716663-18717168	HepG2	liver:	n/a	chr19:18716946-18716954 chr19:18716935-18716943
49	ZBTB7A	chr19:18716702-18717244	HepG2	liver:	n/a	chr19:18716946-18716954 chr19:18716935-18716943

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18717638-18717688	NHBE	bronchial:	n/a
2	chr19:18717638-18717688	NHBE	bronchial:	n/a
3	chr19:18717781-18717831	NHBE	bronchial:	n/a
4	chr19:18717638-18717688	SKMC	muscle:	n/a
5	chr19:18717770-18717820	HCM	heart:	n/a
6	chr19:18717742-18717792	HepG2	liver:	n/a
7	chr19:18717783-18717833	Hepatocyte	liver:	n/a
8	chr19:18717742-18717792	HL-60	blood:	n/a
9	chr19:18717638-18717688	GM12892	blood:	n/a
10	chr19:18717742-18717792	Caco-2	colon:	n/a
11	chr19:18717036-18717086	HRCEpiC	kidney:	n/a
12	chr19:18717641-18717691	HRCEpiC	kidney:	n/a
13	chr19:18717080-18717130	AG04449	skin:	fetal
14	chr19:18717036-18717086	AG04450	lung:	fetal
15	chr19:18717036-18717086	AG04449	skin:	fetal
16	chr19:18717781-18717831	HNPCEpiC	eye:	n/a
17	chr19:18717781-18717831	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:18717783-18717833	HEK293	kidney:	embryo
19	chr19:18717742-18717792	ovcar-3	ovarian:	n/a
20	chr19:18717638-18717688	SK-N-SH	brain:	n/a
21	chr19:18717781-18717831	AG10803	skin:	n/a
22	chr19:18717770-18717820	NHBE	bronchial:	n/a
23	chr19:18717742-18717792	SK-N-SH_RA	brain:	n/a
24	chr19:18717742-18717792	Jurkat	blood:	n/a
25	chr19:18717770-18717820	HMEC	breast:	n/a
26	chr19:18717080-18717130	NT2-D1	testis:	n/a
27	chr19:18717638-18717688	AG04449	skin:	fetal
28	chr19:18717080-18717130	HRCEpiC	kidney:	n/a
29	chr19:18717641-18717691	RPTEC	kidney:	n/a
30	chr19:18717638-18717688	HUVEC	blood vessel:	n/a
31	chr19:18717036-18717086	HL-60	blood:	n/a
32	chr19:18717080-18717130	IMR90	lung:	fetal
33	chr19:18717742-18717792	CMK	blood:	n/a
34	chr19:18717641-18717691	SK-N-MC	brain:	n/a
35	chr19:18717770-18717820	HAEpiC	amniotic membrane:	n/a
36	chr19:18717770-18717820	BJ	skin:	n/a
37	chr19:18717638-18717688	HRPEpiC	eye:	n/a
38	chr19:18717783-18717833	HRE	kidney:	n/a
39	chr19:18717638-18717688	PrEC	prostate:	n/a
40	chr19:18717783-18717833	AG04449	skin:	fetal
41	chr19:18717783-18717833	AG10803	skin:	n/a
42	chr19:18717783-18717833	SKMC	muscle:	n/a
43	chr19:18717080-18717130	GM12878	blood:	n/a
44	chr19:18717036-18717086	AoSMC	blood vessel:	n/a
45	chr19:18717080-18717130	HUVEC	blood vessel:	n/a
46	chr19:18717036-18717086	ECC-1	luminal epithelium:	n/a
47	chr19:18717641-18717691	HEK293	kidney:	embryo
48	chr19:18717080-18717130	BE2_C	brain:	n/a
49	chr19:18717036-18717086	SAEC	small airway:	n/a
50	chr19:18717770-18717820	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18714829..18718349-chr19:18723409..18727026,4	K562	blood:
2	chr19:18713933..18717054-chr19:18723624..18727026,3	K562	blood:
3	chr19:18546602..18548402-chr19:18715878..18718027,2	MCF-7	breast:
4	chr19:18717575..18719687-chr19:18746806..18748857,2	K562	blood:
5	chr19:18703614..18706295-chr19:18717142..18718647,2	MCF-7	breast:
6	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:
7	chr19:18713204..18718867-chr19:18719015..18725496,7	MCF-7	breast:
8	chr19:18715795..18719274-chr19:18719391..18724999,7	MCF-7	breast:

Variant related genes	Relation type
TMEM59L	TF binding region
CRLF1	TF binding region
TMEM59L	CpG island
CRLF1	CpG island
ENSG00000105696	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000167487	chromatin interactions
ENSG00000006016	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71332131	chr19:18717082-18717083	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573828447	chr19:18717108-18717109	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs550642883	chr19:18717130-18717131	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs562764342	chr19:18717214-18717215	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs113093604	chr19:18717264-18717265	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs188747632	chr19:18717295-18717296	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs565524847	chr19:18717320-18717321	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs34503316	chr19:18717390-18717391	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs137853925	chr19:18717392-18717393	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs137853929	chr19:18717414-18717415	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs141412226	chr19:18717637-18717638	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs547451628	chr19:18717730-18717731	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18714000-18718200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:18714200-18717200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:18714400-18717600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr19:18714400-18718400	Active TSS	HSMMtube	muscle
5	chr19:18714400-18719000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:18715000-18718200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:18715400-18717400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:18715400-18717400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr19:18715400-18718200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr19:18715400-18719000	Active TSS	HSMM	muscle
11	chr19:18715800-18717200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:18716000-18717200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr19:18716000-18718800	Bivalent/Poised TSS	Osteobl	bone
14	chr19:18716200-18717200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:18716200-18717200	Transcr. at gene 5' and 3'	Right Atrium	heart
16	chr19:18716200-18718800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr19:18716200-18718800	Bivalent Enhancer	Colonic Mucosa	Colon
18	chr19:18716200-18719000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:18716400-18717200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:18716400-18717200	Bivalent Enhancer	Brain Hippocampus Middle	brain
21	chr19:18716400-18717200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:18716400-18717200	Bivalent Enhancer	Placenta	Placenta
23	chr19:18716400-18717200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr19:18716400-18717200	Bivalent/Poised TSS	HepG2	liver
25	chr19:18716400-18717400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:18716400-18717400	Bivalent Enhancer	Spleen	Spleen
27	chr19:18716400-18718000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:18716400-18718200	Bivalent/Poised TSS	Left Ventricle	heart
29	chr19:18716400-18718600	Bivalent/Poised TSS	Psoas Muscle	Psoas
30	chr19:18716600-18717200	Active TSS	Aorta	Aorta
31	chr19:18716600-18717400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:18716600-18717400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr19:18716600-18717400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr19:18716600-18718200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr19:18716600-18718200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:18716600-18718200	Active TSS	Right Ventricle	heart
37	chr19:18716600-18718600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr19:18716600-18718800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:18716600-18719200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr19:18716800-18717200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:18716800-18717200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr19:18716800-18717200	Bivalent Enhancer	A549	lung
43	chr19:18716800-18717400	Bivalent Enhancer	Fetal Brain Male	brain
44	chr19:18716800-18717800	Bivalent Enhancer	Fetal Stomach	stomach
45	chr19:18716800-18718600	Enhancers	Primary B cells from cord blood	blood
46	chr19:18716800-18719000	Enhancers	Pancreas	Pancrea
47	chr19:18717000-18717200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr19:18717000-18717200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:18717000-18717200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:18717000-18717200	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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