Variant report

Variant	esv3355663
Chromosome Location	chr6:4895153-4896251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4865807..4867722-chr6:4893778..4896538,2	K562	blood:
2	chr6:4894595..4897390-chr6:4897999..4900907,2	MCF-7	breast:
3	chr6:4895552..4898215-chr6:4935545..4937308,2	K562	blood:

Extended variants
information (count: 203 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572776716	chr6:4895153-4895154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144406964	chr6:4895161-4895162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147820759	chr6:4895176-4895177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs70974144	chr6:4895178-4895179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62386617	chr6:4895179-4895180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184842918	chr6:4895180-4895181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115644038	chr6:4895181-4895182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116130353	chr6:4895182-4895183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369699913	chr6:4895183-4895184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200187782	chr6:4895185-4895186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28580117	chr6:4895197-4895198	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563753028	chr6:4895199-4895200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145705073	chr6:4895200-4895201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62386618	chr6:4895203-4895204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570379438	chr6:4895204-4895205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548956420	chr6:4895213-4895214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571266838	chr6:4895217-4895218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565684412	chr6:4895219-4895220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537932345	chr6:4895225-4895226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9504287	chr6:4895229-4895230	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571887981	chr6:4895236-4895237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551195156	chr6:4895239-4895240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575939149	chr6:4895250-4895251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189307337	chr6:4895254-4895255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111208300	chr6:4895255-4895256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577205226	chr6:4895272-4895273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537203597	chr6:4895273-4895274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556790174	chr6:4895294-4895295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567346284	chr6:4895306-4895307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139168430	chr6:4895315-4895316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs68048616	chr6:4895316-4895317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398109777	chr6:4895319-4895320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12175587	chr6:4895320-4895321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114618014	chr6:4895327-4895328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572813425	chr6:4895329-4895330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138363331	chr6:4895331-4895332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181191347	chr6:4895348-4895349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199826525	chr6:4895352-4895353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578111223	chr6:4895365-4895366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543953142	chr6:4895372-4895373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67368710	chr6:4895378-4895379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146690199	chr6:4895381-4895382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563669622	chr6:4895383-4895384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529384901	chr6:4895388-4895389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542639635	chr6:4895391-4895392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535999558	chr6:4895396-4895397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559305692	chr6:4895400-4895401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536933236	chr6:4895406-4895407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528432445	chr6:4895408-4895409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67205784	chr6:4895410-4895411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4872200-4898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:4878200-4905200	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:4879600-4906200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:4880400-4907800	Weak transcription	Small Intestine	intestine
5	chr6:4880600-4898600	Weak transcription	HSMM	muscle
6	chr6:4882800-4909000	Weak transcription	Brain Anterior Caudate	brain
7	chr6:4884000-4898400	Weak transcription	Psoas Muscle	Psoas
8	chr6:4884800-4903800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:4885000-4908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:4887200-4901400	Weak transcription	HSMMtube	muscle
11	chr6:4888000-4906400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:4889200-4906400	Weak transcription	NHLF	lung
13	chr6:4889400-4895800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:4889400-4898400	Weak transcription	Fetal Lung	lung
15	chr6:4889600-4898400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:4890200-4898800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr6:4890200-4901800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:4890400-4897800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:4890600-4913800	Weak transcription	Hela-S3	cervix
20	chr6:4890800-4900600	Weak transcription	NH-A	brain
21	chr6:4891200-4896200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:4891200-4899000	Weak transcription	Brain Germinal Matrix	brain
23	chr6:4891200-4905600	Weak transcription	Fetal Kidney	kidney
24	chr6:4891200-4907400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:4891400-4895200	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr6:4891400-4895200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:4891400-4899200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:4891400-4900400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:4891400-4906400	Weak transcription	Fetal Heart	heart
30	chr6:4891600-4899000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:4891600-4899000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr6:4891800-4898000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:4892000-4895200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:4892000-4895200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:4892000-4895200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:4892000-4895400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:4892000-4895600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:4892000-4896000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:4892000-4896800	Strong transcription	NHEK	skin
40	chr6:4892000-4897000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:4892000-4897200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:4892000-4897200	Strong transcription	Fetal Stomach	stomach
43	chr6:4892000-4897600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:4892000-4897800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr6:4892000-4898000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:4892000-4898400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:4892000-4898600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:4892000-4898600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:4892000-4898600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:4892000-4898600	Strong transcription	Fetal Intestine Small	intestine

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