Variant report

Variant	esv2437108
Chromosome Location	chr19:38259235-38260763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38256038..38258477-chr19:38258531..38260725,2	MCF-7	breast:
2	chr19:38259097..38263090-chr19:38267286..38270188,4	K562	blood:
3	chr19:38259906..38262114-chr19:38263618..38265240,2	K562	blood:

Variant related genes	Relation type
ENSG00000189144	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570574979	chr19:38259271-38259272	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534171788	chr19:38259282-38259283	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552726150	chr19:38259304-38259305	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546562883	chr19:38259310-38259311	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572792358	chr19:38259366-38259367	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535077633	chr19:38259367-38259368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571261771	chr19:38259399-38259400	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189892431	chr19:38259455-38259456	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568569839	chr19:38259476-38259477	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542198712	chr19:38259482-38259483	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539165046	chr19:38259483-38259484	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558304852	chr19:38259504-38259505	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193285245	chr19:38259522-38259523	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573375650	chr19:38259527-38259528	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540859625	chr19:38259528-38259529	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555763846	chr19:38259558-38259559	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574432619	chr19:38259559-38259560	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544609805	chr19:38259585-38259586	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562882065	chr19:38259586-38259587	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185511365	chr19:38259592-38259593	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562364746	chr19:38259602-38259603	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369626355	chr19:38259637-38259638	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560667591	chr19:38259643-38259644	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10048511	chr19:38259666-38259667	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546819955	chr19:38259697-38259698	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561638119	chr19:38259733-38259734	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189638738	chr19:38259763-38259764	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550112826	chr19:38259777-38259778	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568535158	chr19:38259793-38259794	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62110181	chr19:38259815-38259816	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs62110182	chr19:38259819-38259820	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539486209	chr19:38259847-38259848	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551174544	chr19:38259857-38259858	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs150089588	chr19:38259872-38259873	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs534129504	chr19:38259924-38259925	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114400668	chr19:38259998-38259999	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376179459	chr19:38260007-38260008	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369787959	chr19:38260011-38260012	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574345931	chr19:38260041-38260042	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188605594	chr19:38260043-38260044	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181094079	chr19:38260048-38260049	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577940050	chr19:38260084-38260085	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373380642	chr19:38260087-38260088	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545411081	chr19:38260116-38260117	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs62110183	chr19:38260149-38260150	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572542712	chr19:38260181-38260182	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536234342	chr19:38260218-38260219	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113602934	chr19:38260229-38260230	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540012472	chr19:38260261-38260262	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561546713	chr19:38260313-38260314	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38230800-38259800	Weak transcription	Fetal Thymus	thymus
2	chr19:38231000-38260400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:38231400-38259400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:38231400-38259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:38231800-38269200	Weak transcription	Fetal Brain Male	brain
6	chr19:38236400-38269400	Weak transcription	Aorta	Aorta
7	chr19:38237000-38260400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:38238800-38269400	Weak transcription	Small Intestine	intestine
9	chr19:38239000-38269400	Weak transcription	Colonic Mucosa	Colon
10	chr19:38242800-38269000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:38246800-38259600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:38246800-38259800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:38247400-38259800	Weak transcription	Placenta	Placenta
14	chr19:38247800-38260000	Weak transcription	Osteobl	bone
15	chr19:38247800-38269200	Weak transcription	Hela-S3	cervix
16	chr19:38248400-38264600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr19:38248800-38269400	Weak transcription	NH-A	brain
18	chr19:38249200-38269000	Weak transcription	Spleen	Spleen
19	chr19:38249800-38269400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr19:38250400-38259600	Weak transcription	Esophagus	oesophagus
21	chr19:38250600-38262600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr19:38250600-38264000	Strong transcription	Primary T cells from cord blood	blood
23	chr19:38250600-38264400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:38250600-38265000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:38250600-38266400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:38250800-38261400	Strong transcription	Fetal Stomach	stomach
27	chr19:38251000-38259600	Weak transcription	Brain Germinal Matrix	brain
28	chr19:38251400-38261200	Strong transcription	Fetal Muscle Leg	muscle
29	chr19:38251800-38269400	Weak transcription	Gastric	stomach
30	chr19:38251800-38269400	Weak transcription	HUVEC	blood vessel
31	chr19:38252200-38259600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:38252200-38269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:38252600-38269000	Weak transcription	NHEK	skin
34	chr19:38253000-38260000	Weak transcription	HepG2	liver
35	chr19:38253400-38259600	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:38253400-38263600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:38253600-38259600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:38253600-38261400	Strong transcription	Fetal Intestine Large	intestine
39	chr19:38253600-38263600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr19:38253800-38259800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr19:38254600-38269400	Weak transcription	Right Ventricle	heart
42	chr19:38254800-38269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:38255400-38262600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:38255400-38264800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr19:38255600-38259400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:38255600-38261000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr19:38255600-38263000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:38255600-38264000	Strong transcription	Adipose Nuclei	Adipose
49	chr19:38255600-38264200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:38255800-38260800	Strong transcription	Brain Inferior Temporal Lobe	brain

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