Variant report

Variant	esv3427748
Chromosome Location	chr19:35702302-35702544
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	chr19:35699735..35702638-chr19:35738803..35741415,2	K562	blood:
2	chr19:35700181..35702948-chr19:35738888..35740935,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105699	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146750010	chr19:35702312-35702313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564264203	chr19:35702317-35702318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577947000	chr19:35702325-35702326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543523876	chr19:35702346-35702347	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113971331	chr19:35702347-35702348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2861489	chr19:35702355-35702356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141765318	chr19:35702375-35702376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183468775	chr19:35702379-35702380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs58188266	chr19:35702394-35702395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548662429	chr19:35702424-35702425	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559307274	chr19:35702449-35702450	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368690072	chr19:35702456-35702457	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28498919	chr19:35702472-35702473	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35693400-35707000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr19:35694000-35704400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr19:35694200-35708200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:35696600-35704600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:35696800-35704600	Weak transcription	Colonic Mucosa	Colon
6	chr19:35697200-35702600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:35697200-35702800	Weak transcription	Spleen	Spleen
8	chr19:35697400-35703200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:35697400-35704600	Weak transcription	Small Intestine	intestine
10	chr19:35697600-35702600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr19:35697800-35702600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr19:35698000-35702600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:35698000-35702600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr19:35698000-35702600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr19:35698000-35708200	Enhancers	Primary B cells from peripheral blood	blood
16	chr19:35698000-35708200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr19:35698200-35708000	Enhancers	Primary B cells from cord blood	blood
18	chr19:35698600-35702600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr19:35699000-35702600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr19:35699200-35708000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:35700400-35702400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr19:35700400-35702600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:35700400-35704200	Enhancers	Primary T cells from cord blood	blood
24	chr19:35700600-35707200	Enhancers	Primary hematopoietic stem cells	blood
25	chr19:35701200-35702600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:35701200-35702600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:35701200-35709400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr19:35701400-35705600	Enhancers	Fetal Thymus	thymus
29	chr19:35701600-35702800	Weak transcription	Stomach Mucosa	stomach
30	chr19:35701800-35702600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr19:35701800-35702800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:35701800-35703000	Enhancers	Fetal Muscle Trunk	muscle
33	chr19:35701800-35703400	Enhancers	Esophagus	oesophagus
34	chr19:35701800-35703400	Enhancers	Thymus	Thymus
35	chr19:35701800-35703400	Enhancers	HepG2	liver
36	chr19:35701800-35703800	Enhancers	Placenta	Placenta
37	chr19:35702000-35702400	Weak transcription	Right Atrium	heart
38	chr19:35702000-35702400	Weak transcription	GM12878-XiMat	blood
39	chr19:35702000-35703200	Enhancers	Adipose Nuclei	Adipose
40	chr19:35702000-35704600	Weak transcription	Left Ventricle	heart
41	chr19:35702000-35704600	Weak transcription	K562	blood
42	chr19:35702000-35705000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:35702200-35703000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:35702200-35706000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:35702400-35703400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr19:35702400-35703400	Enhancers	Right Atrium	heart
47	chr19:35702400-35703600	Enhancers	Fetal Muscle Leg	muscle
48	chr19:35702400-35703800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:35702400-35704600	Enhancers	GM12878-XiMat	blood

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