Variant report

Variant	esv3337759
Chromosome Location	chr6:1999353-2001351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531410531	chr6:1999353-1999354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547946624	chr6:1999354-1999355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147078861	chr6:1999355-1999356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376507914	chr6:1999361-1999362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530763363	chr6:1999373-1999374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180723983	chr6:1999375-1999376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540180739	chr6:1999383-1999384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556897767	chr6:1999384-1999385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1807164	chr6:1999400-1999401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576778347	chr6:1999426-1999427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536080168	chr6:1999427-1999428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555662501	chr6:1999428-1999429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540539500	chr6:1999446-1999447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560853013	chr6:1999453-1999454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572538849	chr6:1999461-1999462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541158460	chr6:1999471-1999472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558179912	chr6:1999490-1999491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113239581	chr6:1999494-1999495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543372775	chr6:1999505-1999506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546445912	chr6:1999528-1999529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113665792	chr6:1999541-1999542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185098306	chr6:1999542-1999543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143733673	chr6:1999554-1999555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199611292	chr6:1999556-1999557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75717128	chr6:1999557-1999558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78914326	chr6:1999558-1999559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76066836	chr6:1999564-1999565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61018439	chr6:1999573-1999574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527419008	chr6:1999598-1999599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547170038	chr6:1999613-1999614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150282113	chr6:1999620-1999621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188543399	chr6:1999643-1999644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549777594	chr6:1999653-1999654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570392622	chr6:1999654-1999655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78010386	chr6:1999672-1999673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555970407	chr6:1999754-1999755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566139490	chr6:1999764-1999765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547892716	chr6:1999858-1999859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181342102	chr6:2000078-2000079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548709922	chr6:2000113-2000114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557980522	chr6:2000148-2000149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541935397	chr6:2000163-2000164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185769418	chr6:2000172-2000173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9784887	chr6:2000194-2000195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368304514	chr6:2000204-2000205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57373105	chr6:2000244-2000245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61187540	chr6:2000246-2000247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183728499	chr6:2000247-2000248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111278513	chr6:2000251-2000252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55995883	chr6:2000255-2000256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1985000-2010200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:1987400-2003600	Weak transcription	Aorta	Aorta
3	chr6:1988400-2008600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:1990200-2008600	Weak transcription	Pancreas	Pancrea
5	chr6:1990400-2010800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:1992800-2010200	Weak transcription	Fetal Intestine Small	intestine
7	chr6:1993000-2021200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:1993200-2005400	Weak transcription	HepG2	liver
9	chr6:1993200-2007200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:1993400-2000400	Weak transcription	Primary T cells from cord blood	blood
11	chr6:1993800-2001000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:1998200-2002400	Weak transcription	Gastric	stomach
13	chr6:2000000-2021200	Weak transcription	Small Intestine	intestine
14	chr6:2000800-2001200	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr6:2001000-2001200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:2001000-2009600	Weak transcription	Primary hematopoietic stem cells	blood

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