Variant report

Variant	esv3383604
Chromosome Location	chr6:2160851-2161386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:2158821..2161883-chr6:2164038..2166971,3	K562	blood:
2	chr6:2161158..2164138-chr9:131314660..131316336,2	MCF-7	breast:
3	chr6:2159025..2161764-chr6:2166698..2168603,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197694	chromatin interactions
ENSG00000228395	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59080864	chr6:2160906-2160907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530398178	chr6:2160932-2160933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139750672	chr6:2160995-2160996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370318919	chr6:2160997-2160998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560083806	chr6:2161009-2161010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547115406	chr6:2161013-2161014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545910058	chr6:2161038-2161039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190039441	chr6:2161049-2161050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115858925	chr6:2161050-2161051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552047315	chr6:2161069-2161070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548800015	chr6:2161181-2161182	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79215286	chr6:2161187-2161188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs17134732	chr6:2161192-2161193	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs60813424	chr6:2161256-2161257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76122583	chr6:2161263-2161264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368664920	chr6:2161268-2161269	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144391112	chr6:2161357-2161358	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566812378	chr6:2161386-2161387	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2142600-2161000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:2143600-2161600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:2143600-2161600	Weak transcription	HepG2	liver
4	chr6:2156000-2161800	Weak transcription	Small Intestine	intestine
5	chr6:2157600-2164400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:2157800-2161800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:2158000-2161400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:2158000-2161800	Weak transcription	NH-A	brain
9	chr6:2158000-2162000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:2158200-2161800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:2158200-2161800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:2158200-2161800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:2158200-2161800	Weak transcription	HSMMtube	muscle
14	chr6:2158200-2162000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:2158200-2162000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:2158200-2164400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:2158400-2161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:2158400-2161800	Weak transcription	HSMM	muscle
19	chr6:2158400-2162000	Weak transcription	NHEK	skin
20	chr6:2158400-2162400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:2158800-2161800	Weak transcription	Primary T cells from cord blood	blood
22	chr6:2159000-2161800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:2159000-2161800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:2159000-2161800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:2159000-2162000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:2159000-2162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:2159200-2161000	Weak transcription	Hela-S3	cervix
28	chr6:2159200-2161600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:2159200-2161600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:2159200-2161600	Weak transcription	Dnd41	blood
31	chr6:2159200-2161600	Weak transcription	GM12878-XiMat	blood
32	chr6:2159200-2161600	Weak transcription	HMEC	breast
33	chr6:2159200-2161600	Weak transcription	NHLF	lung
34	chr6:2159200-2161800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:2159200-2161800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:2159200-2161800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:2159200-2161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:2159200-2161800	Weak transcription	Left Ventricle	heart
39	chr6:2159200-2162000	Weak transcription	Adipose Nuclei	Adipose
40	chr6:2159200-2162000	Weak transcription	NHDF-Ad	bronchial
41	chr6:2159200-2162200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:2159200-2163000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:2159200-2163600	Weak transcription	Gastric	stomach
44	chr6:2159200-2166800	Weak transcription	A549	lung
45	chr6:2159400-2161600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:2159400-2161600	Weak transcription	Osteobl	bone
47	chr6:2159600-2161800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:2159600-2161800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:2160800-2162000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:2161000-2163400	Enhancers	Primary hematopoietic stem cells	blood

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