Variant report

Variant	nsv1027055
Chromosome Location	chr6:57534691-57680270
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:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:21570110..21571992-chr6:57575867..57577390,2	K562	blood:
2	chr11:17753668..17754453-chr6:57615850..57616702,2	MCF-7	breast:
3	chr18:1906473..1906973-chr6:57539499..57540003,2	MCF-7	breast:
4	chr6:57444969..57446432-chr6:57539130..57540030,7	MCF-7	breast:
5	chr6:57445326..57445995-chr6:57539539..57540106,2	MCF-7	breast:
6	chr6:57541185..57543919-chr8:104728155..104729992,2	MCF-7	breast:
7	chr6:57445250..57446013-chr6:57537509..57538705,3	MCF-7	breast:
8	chr6:57217129..57218039-chr6:57539079..57539990,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB23-13	chr6:57671339-57671489	NONHSAT113298
2	lnc-RAB23-12	chr6:57543887-57544127	NONHSAT113297
3	lnc-RAB23-13	chr6:57674277-57674350	NONHSAT113298
4	lnc-RAB23-12	chr6:57551484-57551584	NONHSAT113297

No data

Variant related genes	Relation type
ENSG00000263745	chromatin interactions

Extended variants
information (count: 4388 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:4388 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78141562	chr6:57534706-57534707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72880971	chr6:57534710-57534711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373697328	chr6:57534711-57534712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367800112	chr6:57534719-57534720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75209088	chr6:57534722-57534723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572424417	chr6:57534726-57534727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75172609	chr6:57534727-57534728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78517923	chr6:57534730-57534731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80300709	chr6:57534753-57534754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542878482	chr6:57534761-57534762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74919172	chr6:57534766-57534767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73753337	chr6:57534802-57534803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73753338	chr6:57534806-57534807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74941254	chr6:57534809-57534810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75714398	chr6:57534825-57534826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73753373	chr6:57534828-57534829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78395545	chr6:57534846-57534847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77023046	chr6:57534856-57534857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74294546	chr6:57534859-57534860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370958151	chr6:57534877-57534878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116507732	chr6:57534879-57534880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540843700	chr6:57534880-57534881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79669734	chr6:57534890-57534891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79423915	chr6:57534891-57534892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79868862	chr6:57534897-57534898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554874888	chr6:57534911-57534912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79032486	chr6:57534912-57534913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145637725	chr6:57534927-57534928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74576747	chr6:57534933-57534934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543652433	chr6:57534934-57534935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562592400	chr6:57534951-57534952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77366162	chr6:57534958-57534959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113780395	chr6:57534964-57534965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79447095	chr6:57534965-57534966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545094227	chr6:57534975-57534976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72325188	chr6:57534976-57534977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559867086	chr6:57534978-57534979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368220189	chr6:57534980-57534981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372021459	chr6:57534986-57534987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375981838	chr6:57534988-57534989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527301726	chr6:57534990-57534991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77228255	chr6:57535000-57535001	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs75139754	chr6:57535001-57535002	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs145634583	chr6:57535003-57535004	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76577201	chr6:57535010-57535011	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76331279	chr6:57535020-57535021	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78516415	chr6:57535021-57535022	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs9476218	chr6:57535023-57535024	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113605348	chr6:57535041-57535042	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111327624	chr6:57535093-57535094	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Neuroblastoma	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57533000-57538200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:57534200-57534800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:57534200-57534800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:57534200-57535600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:57534400-57536000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:57534400-57536200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:57534400-57537000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:57534600-57536200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:57534600-57536200	Enhancers	Osteobl	bone
10	chr6:57534600-57538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:57534600-57538000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:57534800-57538000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:57535000-57535800	ZNF genes & repeats	HUVEC	blood vessel
14	chr6:57535000-57536200	Enhancers	NHDF-Ad	bronchial
15	chr6:57535200-57535800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:57535600-57536200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:57535600-57536200	Bivalent Enhancer	Aorta	Aorta
18	chr6:57535800-57538400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:57536200-57537000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:57536200-57537800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:57536200-57538000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:57536200-57538000	Weak transcription	Osteobl	bone
23	chr6:57536800-57537000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr6:57536800-57537000	Bivalent Enhancer	Aorta	Aorta
25	chr6:57537000-57537200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:57537000-57537200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:57537000-57538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:57537000-57538000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:57537200-57538000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:57537200-57538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:57537800-57538600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr6:57537800-57540800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:57538000-57538200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:57538000-57538800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:57538000-57539000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:57538000-57539000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:57538000-57539400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:57538000-57539400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr6:57538000-57539400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr6:57538000-57539400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:57538000-57539400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:57538000-57539600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:57538000-57539600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:57538000-57539600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr6:57538000-57539600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:57538000-57540800	Enhancers	Osteobl	bone
47	chr6:57538000-57541200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr6:57538200-57538400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:57538200-57538600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:57538200-57539000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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