Variant report

Variant	esv3372254
Chromosome Location	chr6:4894378-4896926
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	chr6:4895552..4898215-chr6:4935545..4937308,2	K562	blood:
3	chr6:4894595..4897390-chr6:4897999..4900907,2	MCF-7	breast:
4	chr6:4892875..4894403-chr6:4902435..4905171,2	K562	blood:

Extended variants
information (count: 291 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564813254	chr6:4894406-4894407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549905367	chr6:4894407-4894408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531412986	chr6:4894431-4894432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190151860	chr6:4894465-4894466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377693817	chr6:4894468-4894469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535369617	chr6:4894488-4894489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555601438	chr6:4894521-4894522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571931088	chr6:4894551-4894552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182317961	chr6:4894565-4894566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557437294	chr6:4894566-4894567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577307597	chr6:4894589-4894590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543449626	chr6:4894593-4894594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563114646	chr6:4894610-4894611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185642738	chr6:4894698-4894699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9504286	chr6:4894705-4894706	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370825110	chr6:4894724-4894725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562325124	chr6:4894732-4894733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527900263	chr6:4894737-4894738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375690015	chr6:4894745-4894746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548001805	chr6:4894770-4894771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564618106	chr6:4894783-4894784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368526338	chr6:4894793-4894794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533248181	chr6:4894801-4894802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140569078	chr6:4894815-4894816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535700507	chr6:4894886-4894887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561859070	chr6:4894889-4894890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527542359	chr6:4894894-4894895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569965533	chr6:4894912-4894913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535812550	chr6:4894962-4894963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190211836	chr6:4895008-4895009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565598583	chr6:4895030-4895031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77440397	chr6:4895054-4895055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77123661	chr6:4895055-4895056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76161988	chr6:4895056-4895057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71540834	chr6:4895068-4895069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75190978	chr6:4895069-4895070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199879122	chr6:4895089-4895090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs70974143	chr6:4895090-4895091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13200332	chr6:4895091-4895092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62386616	chr6:4895093-4895094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138193787	chr6:4895095-4895096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150737459	chr6:4895099-4895100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13215207	chr6:4895104-4895105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112132626	chr6:4895109-4895110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13203657	chr6:4895110-4895111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536730427	chr6:4895116-4895117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28567584	chr6:4895119-4895120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28446163	chr6:4895125-4895126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180882316	chr6:4895130-4895131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185186472	chr6:4895134-4895135	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:236 , 50 per page) page: 1 2 3 4 5

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	chr6:4882800-4894400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:4882800-4909000	Weak transcription	Brain Anterior Caudate	brain
8	chr6:4884000-4898400	Weak transcription	Psoas Muscle	Psoas
9	chr6:4884800-4903800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:4885000-4908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:4887200-4901400	Weak transcription	HSMMtube	muscle
12	chr6:4888000-4906400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:4889200-4906400	Weak transcription	NHLF	lung
14	chr6:4889400-4895800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:4889400-4898400	Weak transcription	Fetal Lung	lung
16	chr6:4889600-4898400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:4890200-4898800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:4890200-4901800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:4890400-4897800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:4890600-4913800	Weak transcription	Hela-S3	cervix
21	chr6:4890800-4900600	Weak transcription	NH-A	brain
22	chr6:4891000-4894600	Strong transcription	Primary B cells from cord blood	blood
23	chr6:4891200-4894800	Strong transcription	Primary T cells from cord blood	blood
24	chr6:4891200-4896200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:4891200-4899000	Weak transcription	Brain Germinal Matrix	brain
26	chr6:4891200-4905600	Weak transcription	Fetal Kidney	kidney
27	chr6:4891200-4907400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:4891400-4894600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:4891400-4895200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr6:4891400-4895200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:4891400-4899200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:4891400-4900400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:4891400-4906400	Weak transcription	Fetal Heart	heart
34	chr6:4891600-4894600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr6:4891600-4899000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:4891600-4899000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr6:4891800-4894600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:4891800-4894800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:4891800-4898000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:4892000-4894600	Strong transcription	Aorta	Aorta
41	chr6:4892000-4894600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr6:4892000-4894600	Strong transcription	Ovary	ovary
43	chr6:4892000-4894600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:4892000-4894600	Strong transcription	Spleen	Spleen
45	chr6:4892000-4894800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:4892000-4894800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr6:4892000-4894800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:4892000-4894800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:4892000-4894800	Strong transcription	Liver	Liver
50	chr6:4892000-4895000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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