Variant report

Variant	esv993784
Chromosome Location	chr19:41150978-41160426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41120433..41122395-chr19:41149709..41152254,3	MCF-7	breast:
2	chr19:41158714..41160657-chr19:41165168..41167753,2	K562	blood:
3	chr19:41120316..41124225-chr19:41147891..41152450,4	K562	blood:
4	chr19:41145219..41147338-chr19:41149537..41152318,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090006	chromatin interactions

Extended variants
information (count: 283 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570359260	chr19:41151022-41151023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534463531	chr19:41151029-41151030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553984898	chr19:41151046-41151047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572469730	chr19:41151057-41151058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571575481	chr19:41151076-41151077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536272199	chr19:41151097-41151098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113968875	chr19:41151120-41151121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368862312	chr19:41151182-41151183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112173264	chr19:41151222-41151223	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541498579	chr19:41151260-41151261	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565576671	chr19:41151279-41151280	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111984758	chr19:41151290-41151291	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373178475	chr19:41151309-41151310	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376915652	chr19:41151317-41151318	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187103485	chr19:41151344-41151345	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143284689	chr19:41151399-41151400	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547960774	chr19:41151404-41151405	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544403643	chr19:41151444-41151445	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371620943	chr19:41151445-41151446	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562508663	chr19:41151451-41151452	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563335214	chr19:41151453-41151454	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71173666	chr19:41151456-41151457	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200636705	chr19:41151459-41151460	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552055531	chr19:41151460-41151461	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570373735	chr19:41151486-41151487	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534525712	chr19:41151492-41151493	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546746355	chr19:41151513-41151514	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369292792	chr19:41151557-41151558	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541496041	chr19:41151579-41151580	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552650251	chr19:41151651-41151652	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs57366368	chr19:41151652-41151653	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200482078	chr19:41151794-41151795	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201146396	chr19:41151795-41151796	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76811067	chr19:41151797-41151798	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56654211	chr19:41151809-41151810	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529060185	chr19:41151823-41151824	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373753042	chr19:41151911-41151912	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527528708	chr19:41151988-41151989	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs536789771	chr19:41152027-41152028	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554759382	chr19:41152031-41152032	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376756623	chr19:41152059-41152060	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537397817	chr19:41152088-41152089	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559306486	chr19:41152134-41152135	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189646171	chr19:41152159-41152160	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368143936	chr19:41152196-41152197	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12976345	chr19:41152230-41152231	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112434383	chr19:41152231-41152232	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs61240114	chr19:41152244-41152245	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200402664	chr19:41152245-41152246	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541338176	chr19:41152263-41152264	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41140800-41152600	Weak transcription	Right Atrium	heart
2	chr19:41145400-41153000	Enhancers	Fetal Stomach	stomach
3	chr19:41146800-41151000	Weak transcription	NHDF-Ad	bronchial
4	chr19:41146800-41151200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr19:41146800-41152400	Weak transcription	Colonic Mucosa	Colon
6	chr19:41146800-41152400	Weak transcription	Lung	lung
7	chr19:41146800-41157000	Weak transcription	Spleen	Spleen
8	chr19:41147000-41151000	Weak transcription	Left Ventricle	heart
9	chr19:41147000-41151200	Weak transcription	Placenta	Placenta
10	chr19:41147000-41151600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:41147000-41151600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:41147000-41151600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:41147000-41151800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:41147000-41151800	Weak transcription	Fetal Heart	heart
15	chr19:41147200-41151800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:41147400-41151200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:41147400-41151200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:41147400-41151600	Weak transcription	HSMMtube	muscle
19	chr19:41147400-41151800	Weak transcription	NH-A	brain
20	chr19:41147400-41152000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr19:41147600-41151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:41147600-41151400	Weak transcription	HUVEC	blood vessel
23	chr19:41147600-41151600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:41147600-41151600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:41147600-41151600	Weak transcription	Osteobl	bone
26	chr19:41147600-41151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:41147600-41152400	Weak transcription	Ovary	ovary
28	chr19:41147600-41152400	Weak transcription	NHLF	lung
29	chr19:41148000-41151200	Weak transcription	Fetal Muscle Leg	muscle
30	chr19:41148200-41151000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:41149000-41151000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:41149000-41151000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr19:41149400-41151600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:41149800-41151400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:41149800-41152000	Weak transcription	Fetal Lung	lung
36	chr19:41150000-41151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:41150600-41151800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:41150800-41151000	Enhancers	Adipose Nuclei	Adipose
39	chr19:41150800-41151600	Enhancers	A549	lung
40	chr19:41150800-41151800	Enhancers	Colon Smooth Muscle	Colon
41	chr19:41150800-41152400	Enhancers	Rectal Smooth Muscle	rectum
42	chr19:41151000-41151400	Weak transcription	Adipose Nuclei	Adipose
43	chr19:41151000-41151400	Enhancers	Left Ventricle	heart
44	chr19:41151000-41151600	Enhancers	NHDF-Ad	bronchial
45	chr19:41151000-41151800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr19:41151000-41152200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr19:41151000-41152800	Enhancers	Fetal Muscle Trunk	muscle
48	chr19:41151200-41151400	Enhancers	Esophagus	oesophagus
49	chr19:41151200-41151400	Active TSS	Stomach Smooth Muscle	stomach
50	chr19:41151200-41151600	Enhancers	Muscle Satellite Cultured Cells	--

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