Variant report

Variant	esv275065
Chromosome Location	chr6:32268488-32277933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:32266172..32268310-chr6:32269017..32271310,2	MCF-7	breast:
2	chr6:32264476..32267942-chr6:32268038..32271496,3	K562	blood:
3	chr6:32251349..32253695-chr6:32277418..32279197,2	MCF-7	breast:
4	chr6:32260150..32262258-chr6:32267045..32269420,2	MCF-7	breast:

Extended variants
information (count: 307 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11962040	chr6:32268488-32268489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537757	chr6:32268501-32268502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs201633311	chr6:32268513-32268514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369331936	chr6:32268523-32268524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547301217	chr6:32268550-32268551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117528459	chr6:32268656-32268657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6909427	chr6:32268701-32268702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs557493172	chr6:32268704-32268705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149362093	chr6:32268749-32268750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558225200	chr6:32268795-32268796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs68098834	chr6:32268796-32268797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114555625	chr6:32268832-32268833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540373368	chr6:32268854-32268855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527815507	chr6:32268873-32268874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146305655	chr6:32268953-32268954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533876	chr6:32268980-32268981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139466546	chr6:32268983-32268984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552826278	chr6:32268995-32268996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115587548	chr6:32269008-32269009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374815097	chr6:32269009-32269010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186079290	chr6:32269068-32269069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563451522	chr6:32269090-32269091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575696707	chr6:32269092-32269093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546271040	chr6:32269137-32269138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564359564	chr6:32269216-32269217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9268156	chr6:32269218-32269219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142874520	chr6:32269267-32269268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112874311	chr6:32269329-32269330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376590615	chr6:32269330-32269331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540047071	chr6:32269344-32269345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9268157	chr6:32269359-32269360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs116443035	chr6:32269370-32269371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569428717	chr6:32269432-32269433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568546760	chr6:32269484-32269485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557567588	chr6:32269487-32269488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200839501	chr6:32269488-32269489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146011760	chr6:32269489-32269490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537784877	chr6:32269501-32269502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114049934	chr6:32269508-32269509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552517520	chr6:32269566-32269567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551295695	chr6:32269570-32269571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192285781	chr6:32269571-32269572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148778992	chr6:32269574-32269575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28366175	chr6:32269578-32269579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs9281726	chr6:32269590-32269591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142390501	chr6:32269618-32269619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563966984	chr6:32269735-32269736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200408003	chr6:32269736-32269737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374569523	chr6:32269737-32269738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79961780	chr6:32269739-32269740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Ovarian cancer	21781307	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32263800-32273400	Weak transcription	Ovary	ovary
2	chr6:32267200-32271600	Weak transcription	HUVEC	blood vessel
3	chr6:32270400-32273000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:32270600-32271200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:32270600-32273000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:32270800-32271800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:32270800-32272200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:32271000-32273000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:32271000-32273000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:32271200-32274000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:32271400-32272800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:32271600-32272000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:32271600-32272000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:32271600-32272000	Enhancers	HUVEC	blood vessel
15	chr6:32273000-32274000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:32273400-32274000	Enhancers	Ovary	ovary
17	chr6:32274000-32274200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:32274000-32274200	Enhancers	Fetal Kidney	kidney
19	chr6:32274000-32274200	Flanking Active TSS	Ovary	ovary
20	chr6:32274000-32274400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:32274200-32274400	Active TSS	Ovary	ovary
22	chr6:32274400-32276600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:32274400-32279200	Weak transcription	Ovary	ovary
24	chr6:32275800-32281400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:32276800-32277000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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