Variant report

Variant	esv3489849
Chromosome Location	chr19:40367062-40369160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147792571	chr19:40367072-40367073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3950830	chr19:40367076-40367077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2020281	chr19:40367126-40367127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4029203	chr19:40367139-40367140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs70950382	chr19:40367153-40367154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2354788	chr19:40367154-40367155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7248496	chr19:40367198-40367199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4029202	chr19:40367213-40367214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572893689	chr19:40367285-40367286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2354787	chr19:40367309-40367310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562196368	chr19:40367312-40367313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529334579	chr19:40367316-40367317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199685395	chr19:40367328-40367329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373607979	chr19:40367344-40367345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200754316	chr19:40367365-40367366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2354786	chr19:40367366-40367367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533675096	chr19:40367401-40367402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201370318	chr19:40367444-40367445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566517921	chr19:40367445-40367446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527254206	chr19:40367490-40367491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548842873	chr19:40367532-40367533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541737410	chr19:40367555-40367556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560041551	chr19:40367556-40367557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140889878	chr19:40367567-40367568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556329044	chr19:40367701-40367702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571070100	chr19:40367706-40367707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538589393	chr19:40367733-40367734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553648815	chr19:40367774-40367775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572936498	chr19:40367783-40367784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377328081	chr19:40367784-40367785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540247121	chr19:40367829-40367830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200246001	chr19:40367830-40367831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574080944	chr19:40367831-40367832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144596519	chr19:40367856-40367857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6508920	chr19:40367862-40367863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578213202	chr19:40367864-40367865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545740519	chr19:40367873-40367874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60790106	chr19:40367883-40367884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376047185	chr19:40367889-40367890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148109128	chr19:40367894-40367895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145774357	chr19:40367900-40367901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73558346	chr19:40367908-40367909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112745668	chr19:40367926-40367927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371977605	chr19:40367927-40367928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200701971	chr19:40367938-40367939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116879193	chr19:40367964-40367965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531446903	chr19:40367969-40367970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549602412	chr19:40367973-40367974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117352937	chr19:40367981-40367982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571155541	chr19:40368004-40368005	Weak transcription Strong transcription	n/a	n/a	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
Lung cancer	21569311	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

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40349800-40369000	Weak transcription	Brain Anterior Caudate	brain
2	chr19:40350400-40372200	Weak transcription	Dnd41	blood
3	chr19:40352000-40372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:40352400-40372400	Weak transcription	Fetal Intestine Large	intestine
5	chr19:40354200-40370800	Weak transcription	Fetal Brain Female	brain
6	chr19:40354600-40372200	Weak transcription	HepG2	liver
7	chr19:40355200-40372200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:40355800-40367200	Strong transcription	Primary T cells from cord blood	blood
9	chr19:40358400-40372200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:40359800-40369600	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:40361000-40372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:40361200-40374000	Weak transcription	Pancreas	Pancrea
13	chr19:40364400-40372200	Weak transcription	Right Atrium	heart
14	chr19:40364400-40372400	Weak transcription	Gastric	stomach
15	chr19:40364600-40369200	Weak transcription	Colonic Mucosa	Colon
16	chr19:40365800-40372200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:40365800-40372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:40366000-40369000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:40366200-40372800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr19:40366400-40367200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr19:40366600-40372400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr19:40366800-40367200	Strong transcription	Fetal Intestine Small	intestine
23	chr19:40367000-40368400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:40367000-40368800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:40367000-40369000	Weak transcription	Stomach Mucosa	stomach
26	chr19:40367000-40372400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr19:40367000-40373400	Weak transcription	Fetal Stomach	stomach
28	chr19:40367200-40368000	Weak transcription	Fetal Intestine Small	intestine
29	chr19:40367200-40368600	Weak transcription	Primary T cells from cord blood	blood
30	chr19:40367200-40368800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:40368000-40371400	Strong transcription	Fetal Intestine Small	intestine
32	chr19:40368400-40369000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:40368600-40371200	Strong transcription	Primary T cells from cord blood	blood
34	chr19:40368800-40369800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr19:40368800-40371200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr19:40369000-40369200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:40369000-40369400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:40369000-40369800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr19:40369000-40370000	Strong transcription	Stomach Mucosa	stomach

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