Variant report

Variant	esv3500177
Chromosome Location	chr19:36957705-36960424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36958063..36960933-chr19:36978148..36980352,2	K562	blood:

Variant related genes	Relation type
ENSG00000186017	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369353575	chr19:36957786-36957787	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558444105	chr19:36957787-36957788	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113109833	chr19:36957824-36957825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs111336753	chr19:36957828-36957829	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573290186	chr19:36957831-36957832	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs540735282	chr19:36957840-36957841	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562012235	chr19:36957857-36957858	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs112739905	chr19:36957876-36957877	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs386809006	chr19:36957885-36957886	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574294727	chr19:36957897-36957898	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs544810480	chr19:36957901-36957902	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs11881867	chr19:36957905-36957906	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113969922	chr19:36957907-36957908	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs8104893	chr19:36957930-36957931	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs533647735	chr19:36957934-36957935	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs551921946	chr19:36957958-36957959	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564126243	chr19:36957965-36957966	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs59500767	chr19:36958044-36958045	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs528049552	chr19:36958080-36958081	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546680262	chr19:36958092-36958093	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10411104	chr19:36958112-36958113	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529090625	chr19:36958126-36958127	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550356148	chr19:36958232-36958233	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117731673	chr19:36958296-36958297	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10409996	chr19:36958297-36958298	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375421419	chr19:36958309-36958310	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10417866	chr19:36958311-36958312	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34170364	chr19:36958337-36958338	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548282845	chr19:36958354-36958355	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs397859698	chr19:36958355-36958356	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542192971	chr19:36958373-36958374	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371665643	chr19:36958414-36958415	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374931595	chr19:36958420-36958421	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142721705	chr19:36958421-36958422	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9676533	chr19:36958431-36958432	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555936994	chr19:36958455-36958456	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12984745	chr19:36958522-36958523	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12975998	chr19:36958523-36958524	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185248330	chr19:36958629-36958630	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544846646	chr19:36958672-36958673	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs560803094	chr19:36958706-36958707	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373248523	chr19:36958710-36958711	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567562869	chr19:36958721-36958722	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs75286787	chr19:36958741-36958742	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536110500	chr19:36958760-36958761	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188515660	chr19:36958790-36958791	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545703957	chr19:36958863-36958864	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560575538	chr19:36958883-36958884	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528096269	chr19:36958886-36958887	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10416494	chr19:36958944-36958945	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	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
Breast cancer	21509527	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:36940800-36959400	Weak transcription	Brain Angular Gyrus	brain
3	chr19:36941000-36959400	Weak transcription	Placenta	Placenta
4	chr19:36941000-36979000	Weak transcription	Hela-S3	cervix
5	chr19:36942400-36962400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:36942600-36963000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:36942600-36966200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:36942800-36962200	Weak transcription	Right Ventricle	heart
9	chr19:36943600-36959200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:36944400-36961200	Weak transcription	Left Ventricle	heart
11	chr19:36944800-36969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:36945400-36959400	Weak transcription	Aorta	Aorta
13	chr19:36945800-36979000	Weak transcription	Fetal Heart	heart
14	chr19:36946000-36963000	Weak transcription	K562	blood
15	chr19:36946400-36962200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:36946400-36963400	Weak transcription	NHDF-Ad	bronchial
17	chr19:36946600-36959200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:36947200-36960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:36947600-36977400	ZNF genes & repeats	Liver	Liver
20	chr19:36948000-36962200	Weak transcription	Brain Substantia Nigra	brain
21	chr19:36948200-36960600	Weak transcription	Fetal Kidney	kidney
22	chr19:36948200-36962200	Weak transcription	HSMMtube	muscle
23	chr19:36948400-36961000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr19:36949000-36960800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:36949200-36959400	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:36950200-36958200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr19:36951000-36957800	ZNF genes & repeats	A549	lung
28	chr19:36951400-36963000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:36952200-36957800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr19:36952400-36962200	Weak transcription	Osteobl	bone
31	chr19:36952800-36959800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:36953200-36967600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:36953200-36967800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:36953400-36959200	Weak transcription	Gastric	stomach
35	chr19:36953400-36967600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:36953600-36963000	Weak transcription	HepG2	liver
37	chr19:36954000-36972200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:36954200-36957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:36954200-36958200	Weak transcription	Thymus	Thymus
40	chr19:36954200-36962800	Weak transcription	Colonic Mucosa	Colon
41	chr19:36954400-36967800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:36955000-36958000	Strong transcription	Brain Germinal Matrix	brain
43	chr19:36955000-36959600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:36955000-36960000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:36955200-36961400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr19:36955200-36963400	Weak transcription	Stomach Mucosa	stomach
47	chr19:36955200-36966400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:36955200-36966600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:36955400-36960200	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr19:36955400-36966400	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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