Variant report

Variant	esv2757178
Chromosome Location	chr6:75060947-75162222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:75118978..75119780-chr6:75475200..75475940,2	MCF-7	breast:
2	chr6:75118557..75119496-chr6:75918100..75919176,3	MCF-7	breast:
3	chr6:75117931..75120867-chr6:75914408..75916114,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD109-8	chr6:75113511-75113565	ucscGeneNc_uc003phr_2

Variant related genes	Relation type
ENSG00000111799	chromatin interactions

Extended variants
information (count: 2109 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2109 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9343143	chr6:75060947-75060948	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552444538	chr6:75061009-75061010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111585052	chr6:75061058-75061059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112397513	chr6:75061090-75061091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137916275	chr6:75061140-75061141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567969885	chr6:75061170-75061171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372528677	chr6:75061236-75061237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377213043	chr6:75061253-75061254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535486534	chr6:75061284-75061285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553956411	chr6:75061299-75061300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112734461	chr6:75061303-75061304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539678564	chr6:75061317-75061318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149524062	chr6:75061319-75061320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs278351	chr6:75061324-75061325	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187176612	chr6:75061354-75061355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551396971	chr6:75061384-75061385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112122009	chr6:75061406-75061407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562860822	chr6:75061428-75061429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375440362	chr6:75061441-75061442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574746798	chr6:75061484-75061485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111341622	chr6:75061485-75061486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550472	chr6:75061551-75061552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560256272	chr6:75061642-75061643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190454176	chr6:75061665-75061666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552322937	chr6:75061674-75061675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112865016	chr6:75061685-75061686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181570395	chr6:75061690-75061691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550210471	chr6:75061706-75061707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3843506	chr6:75061707-75061708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs112570391	chr6:75061723-75061724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571097956	chr6:75061731-75061732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530624295	chr6:75061745-75061746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539563735	chr6:75061749-75061750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139945683	chr6:75061784-75061785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3843507	chr6:75061797-75061798	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs113741342	chr6:75061811-75061812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142877524	chr6:75061873-75061874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574769539	chr6:75061911-75061912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3846756	chr6:75061918-75061919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111617241	chr6:75061932-75061933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534785967	chr6:75061988-75061989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572171171	chr6:75062051-75062052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545899677	chr6:75062091-75062092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373276872	chr6:75062145-75062146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539259529	chr6:75062164-75062165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552868116	chr6:75062166-75062167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564653288	chr6:75062180-75062181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112016566	chr6:75062233-75062234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139723086	chr6:75062280-75062281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112314173	chr6:75062284-75062285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75057200-75061200	Weak transcription	HSMMtube	muscle
2	chr6:75060400-75061400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:75060400-75062000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:75060600-75061000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:75060600-75061000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:75060600-75061600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:75060600-75061600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:75060600-75061800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:75060800-75061400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr6:75060800-75061800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:75061000-75061200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:75061000-75061400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:75061200-75062000	Enhancers	HSMMtube	muscle
14	chr6:75061200-75065600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:75061600-75066800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:75061600-75067000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:75061800-75065600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:75062000-75065800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:75063000-75063200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:75063600-75064800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:75064800-75065800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr6:75064800-75066000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:75065600-75066000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr6:75065600-75066000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:75065600-75066200	Enhancers	HMEC	breast
26	chr6:75065600-75066400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:75065600-75066400	Enhancers	Ovary	ovary
28	chr6:75065600-75066400	Enhancers	NHDF-Ad	bronchial
29	chr6:75065600-75066600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:75065600-75066800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:75065600-75066800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:75065600-75067200	Enhancers	NHEK	skin
33	chr6:75065600-75067800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:75065600-75067800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:75065800-75066400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:75065800-75066400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:75065800-75067000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:75065800-75067600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:75065800-75067600	Enhancers	Osteobl	bone
40	chr6:75065800-75067800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr6:75066000-75067400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:75066000-75067800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:75066200-75066600	Weak transcription	HMEC	breast
44	chr6:75066200-75067600	Enhancers	NHLF	lung
45	chr6:75066400-75067200	Weak transcription	Ovary	ovary
46	chr6:75066400-75072000	Weak transcription	NHDF-Ad	bronchial
47	chr6:75066600-75067000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:75066600-75067600	Enhancers	HMEC	breast
49	chr6:75066800-75067400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr6:75066800-75067600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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