Variant report

Variant	esv3385915
Chromosome Location	chr19:39080162-39082160
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	CTCF	chr19:39080579-39080606	Fibrobl	skin:	n/a	n/a
2	CTCF	chr19:39080562-39080630	MCF-7	breast:	n/a	n/a
3	CTCF	chr19:39082053-39082093	GM10266	blood:	n/a	n/a
4	POLR2A	chr19:39080517-39080641	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39082076..39084769-chr19:39307819..39309759,2	K562	blood:

Variant related genes	Relation type
ENSG00000267291	TF binding region
ENSG00000104823	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58693293	chr19:39080174-39080175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17847695	chr19:39080180-39080181	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535863716	chr19:39080181-39080182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554587117	chr19:39080216-39080217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183044912	chr19:39080259-39080260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537796974	chr19:39080281-39080282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576483083	chr19:39080283-39080284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558876620	chr19:39080306-39080307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112875615	chr19:39080308-39080309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541491772	chr19:39080355-39080356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553518465	chr19:39080390-39080391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543518938	chr19:39080401-39080402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541834460	chr19:39080412-39080413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75430398	chr19:39080454-39080455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531495257	chr19:39080487-39080488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543707781	chr19:39080508-39080509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369224994	chr19:39080512-39080513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564688679	chr19:39080519-39080520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532195077	chr19:39080563-39080564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186475599	chr19:39080602-39080603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144643242	chr19:39080609-39080610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146607614	chr19:39080624-39080625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547875809	chr19:39080657-39080658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149189413	chr19:39080661-39080662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537306451	chr19:39080671-39080672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62120352	chr19:39080728-39080729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571030517	chr19:39080742-39080743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76889082	chr19:39080770-39080771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553631532	chr19:39080774-39080775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574981444	chr19:39080811-39080812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6508810	chr19:39080845-39080846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8112984	chr19:39080872-39080873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8112339	chr19:39080877-39080878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8113061	chr19:39080883-39080884	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543321187	chr19:39080884-39080885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8112140	chr19:39080894-39080895	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs74720323	chr19:39080904-39080905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76344561	chr19:39080906-39080907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75410052	chr19:39080909-39080910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76503653	chr19:39080926-39080927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76901411	chr19:39080929-39080930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78371077	chr19:39080944-39080945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370254722	chr19:39080946-39080947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372497471	chr19:39080950-39080951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376545037	chr19:39080954-39080955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370898303	chr19:39080957-39080958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374308908	chr19:39080959-39080960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185269068	chr19:39080964-39080965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78045742	chr19:39080968-39080969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557446528	chr19:39080978-39080979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	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

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
2	chr19:39053200-39086800	Weak transcription	Brain Angular Gyrus	brain
3	chr19:39053200-39086800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr19:39056400-39086400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:39057200-39085200	Strong transcription	Fetal Muscle Leg	muscle
6	chr19:39058400-39081800	Weak transcription	Adipose Nuclei	Adipose
7	chr19:39064200-39086400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:39067000-39086600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:39069800-39081800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:39070600-39082600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:39070600-39083800	Weak transcription	Placenta	Placenta
12	chr19:39070600-39086200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:39070600-39100000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:39071200-39086000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:39072200-39082000	Strong transcription	HSMMtube	muscle
16	chr19:39074600-39082600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:39074800-39087000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr19:39074800-39101600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:39075400-39087000	Weak transcription	Colonic Mucosa	Colon
20	chr19:39076600-39083800	Weak transcription	Dnd41	blood
21	chr19:39076600-39089600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:39076600-39093200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:39076800-39081400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr19:39076800-39092800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr19:39077000-39086000	Weak transcription	Fetal Stomach	stomach
26	chr19:39077000-39086200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:39077000-39101600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:39077200-39083400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:39077200-39103200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr19:39077400-39082800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr19:39077400-39086400	Weak transcription	Esophagus	oesophagus
32	chr19:39077600-39085800	Weak transcription	Fetal Intestine Small	intestine
33	chr19:39077800-39093000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:39078000-39088400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:39078000-39089000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr19:39078000-39089200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr19:39078000-39089800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:39078200-39080800	Strong transcription	Primary T cells from cord blood	blood
39	chr19:39078200-39084400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr19:39078200-39092200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:39078600-39080800	Weak transcription	Brain Substantia Nigra	brain
42	chr19:39078600-39086200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:39078600-39086800	Weak transcription	Brain Hippocampus Middle	brain
44	chr19:39078800-39081400	Weak transcription	Primary B cells from cord blood	blood
45	chr19:39078800-39081400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:39078800-39084800	Weak transcription	Fetal Thymus	thymus
47	chr19:39078800-39086200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr19:39078800-39086400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:39078800-39086400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:39078800-39086600	Weak transcription	H9 Cell Line	embryonic stem cell

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