Variant report

Variant	esv35015
Chromosome Location	chr6:75031337-75154143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:75118978..75119780-chr6:75475200..75475940,2	MCF-7	breast:
2	chr6:75026464..75029067-chr6:75031297..75033184,2	K562	blood:
3	chr6:75118557..75119496-chr6:75918100..75919176,3	MCF-7	breast:
4	chr6:75053870..75055720-chr6:75913011..75915599,2	MCF-7	breast:
5	chr6:75117931..75120867-chr6:75914408..75916114,2	MCF-7	breast:
6	chr6:75053590..75054206-chr6:75918614..75919395,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD109-3	chr6:75056791-75056845	ENSG00000223786.1
2	lnc-CD109-8	chr6:75113511-75113565	ucscGeneNc_uc003phr_2

No data

Variant related genes	Relation type
ENSG00000111799	chromatin interactions

Extended variants
information (count: 2391 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2391 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4706579	chr6:75031337-75031338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186230165	chr6:75031338-75031339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143757329	chr6:75031343-75031344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147188137	chr6:75031344-75031345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561387971	chr6:75031382-75031383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372077492	chr6:75031386-75031387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527271186	chr6:75031418-75031419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377074470	chr6:75031424-75031425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572306161	chr6:75031491-75031492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540263374	chr6:75031505-75031506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376771004	chr6:75031514-75031515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555455478	chr6:75031582-75031583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16884675	chr6:75031660-75031661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190755790	chr6:75031670-75031671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9343135	chr6:75031687-75031688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562988088	chr6:75031730-75031731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530195976	chr6:75031747-75031748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371737993	chr6:75031798-75031799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534777848	chr6:75031814-75031815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184246990	chr6:75031839-75031840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187908646	chr6:75031891-75031892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551871781	chr6:75031906-75031907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11964258	chr6:75031937-75031938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553191696	chr6:75031941-75031942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78664033	chr6:75032014-75032015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567823661	chr6:75032022-75032023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560356	chr6:75032031-75032032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535247704	chr6:75032043-75032044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs510138	chr6:75032058-75032059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578021318	chr6:75032072-75032073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553977767	chr6:75032105-75032106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565824469	chr6:75032111-75032112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545287064	chr6:75032132-75032133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs509254	chr6:75032134-75032135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539753238	chr6:75032147-75032148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562012	chr6:75032168-75032169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558108924	chr6:75032176-75032177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561243458	chr6:75042613-75042614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529201521	chr6:75042615-75042616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116110783	chr6:75042653-75042654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142824761	chr6:75042697-75042698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183466902	chr6:75042736-75042737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9352100	chr6:75042748-75042749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570117150	chr6:75042768-75042769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375348853	chr6:75042788-75042789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376265619	chr6:75042815-75042816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9360777	chr6:75042827-75042828	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549365775	chr6:75042863-75042864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542271751	chr6:75042905-75042906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202004326	chr6:75042906-75042907	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelodysplastic syndrome	18508791	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75030400-75031400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:75030800-75031800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:75030800-75031800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:75031800-75032000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:75032000-75032200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:75042600-75043000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:75042800-75043800	Enhancers	NHLF	lung
8	chr6:75043000-75043400	Active TSS	NHDF-Ad	bronchial
9	chr6:75043000-75043800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:75043000-75045600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:75045600-75046600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:75046000-75047000	Enhancers	Fetal Kidney	kidney
13	chr6:75046400-75046800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:75053800-75054400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:75054000-75054600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:75056400-75056800	Enhancers	Fetal Muscle Leg	muscle
17	chr6:75056400-75057200	Enhancers	HSMMtube	muscle
18	chr6:75057200-75061200	Weak transcription	HSMMtube	muscle
19	chr6:75060200-75060600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr6:75060400-75060600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:75060400-75061400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:75060400-75062000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:75060600-75061000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:75060600-75061000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:75060600-75061600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:75060600-75061600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:75060600-75061800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:75060800-75061400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:75060800-75061800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:75061000-75061200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr6:75061000-75061400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:75061200-75062000	Enhancers	HSMMtube	muscle
33	chr6:75061200-75065600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr6:75061600-75066800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:75061600-75067000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:75061800-75065600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:75062000-75065800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:75063000-75063200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr6:75063600-75064800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr6:75064800-75065800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:75064800-75066000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:75065600-75066000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr6:75065600-75066000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:75065600-75066200	Enhancers	HMEC	breast
45	chr6:75065600-75066400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:75065600-75066400	Enhancers	Ovary	ovary
47	chr6:75065600-75066400	Enhancers	NHDF-Ad	bronchial
48	chr6:75065600-75066600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:75065600-75066800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:75065600-75066800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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