Variant report

Variant	esv3448433
Chromosome Location	chr6:56827743-56829891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56827463..56830023-chr6:56830661..56832302,2	K562	blood:
2	chr6:56820475..56822704-chr6:56829156..56832250,3	MCF-7	breast:
3	chr6:56817328..56823856-chr6:56824167..56831366,18	K562	blood:

Variant related genes	Relation type
ENSG00000151914	chromatin interactions
ENSG00000151917	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148500059	chr6:56827745-56827746	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs191987245	chr6:56827819-56827820	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs116145439	chr6:56827857-56827858	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs562111184	chr6:56827925-56827926	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs28360538	chr6:56827936-56827937	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs551082632	chr6:56828092-56828093	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185157975	chr6:56828098-56828099	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530404372	chr6:56828100-56828101	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141846840	chr6:56828110-56828111	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs550525433	chr6:56828126-56828127	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533539238	chr6:56828132-56828133	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150630118	chr6:56828153-56828154	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570262204	chr6:56828175-56828176	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs190440817	chr6:56828180-56828181	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139774595	chr6:56828202-56828203	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs193211660	chr6:56828214-56828215	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs11963275	chr6:56828231-56828232	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535189928	chr6:56828258-56828259	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs556610330	chr6:56828332-56828333	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372912831	chr6:56828370-56828371	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575098213	chr6:56828395-56828396	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377151344	chr6:56828489-56828490	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs370898000	chr6:56828494-56828495	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539208138	chr6:56828559-56828560	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs59723335	chr6:56828631-56828632	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs66561025	chr6:56828634-56828635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557925050	chr6:56828635-56828636	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573102335	chr6:56828661-56828662	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201367684	chr6:56828718-56828719	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs184358100	chr6:56828719-56828720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs146721912	chr6:56828751-56828752	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369630428	chr6:56828771-56828772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs202036693	chr6:56828805-56828806	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs71674108	chr6:56828810-56828811	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574050921	chr6:56828837-56828838	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112057188	chr6:56828847-56828848	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544741030	chr6:56828852-56828853	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562924832	chr6:56828896-56828897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533454245	chr6:56828927-56828928	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs6925107	chr6:56828940-56828941	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs560712534	chr6:56828948-56828949	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs536729055	chr6:56828961-56828962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189440237	chr6:56829017-56829018	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376534015	chr6:56829144-56829145	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549617931	chr6:56829177-56829178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs139334113	chr6:56829185-56829186	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528811422	chr6:56829205-56829206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs550270108	chr6:56829220-56829221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs142649827	chr6:56829383-56829384	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181405013	chr6:56829390-56829391	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56823000-56828000	Enhancers	Osteobl	bone
2	chr6:56824800-56828200	Enhancers	NHDF-Ad	bronchial
3	chr6:56825400-56828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:56826600-56828000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:56827000-56827800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:56827000-56828000	Enhancers	NH-A	brain
7	chr6:56827200-56828000	Enhancers	NHLF	lung
8	chr6:56827400-56828000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:56827400-56828000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:56827400-56828000	Enhancers	HSMM	muscle
11	chr6:56827400-56828200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:56827600-56827800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:56827600-56828200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:56827600-56828200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:56827600-56828200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:56827600-56828400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:56827800-56828200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:56827800-56828400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:56827800-56831800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:56828000-56829400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:56828000-56841600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:56829600-56829800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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