Variant report

Variant	nsv1024153
Chromosome Location	chr6:57516541-57680330
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:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:57445250..57446013-chr6:57537509..57538705,3	MCF-7	breast:
2	chr11:17753668..17754453-chr6:57615850..57616702,2	MCF-7	breast:
3	chr6:57444969..57446432-chr6:57539130..57540030,7	MCF-7	breast:
4	chr3:81978758..81979420-chr6:57518103..57518962,2	MCF-7	breast:
5	chr6:57445326..57445995-chr6:57539539..57540106,2	MCF-7	breast:
6	chr5:21570110..21571992-chr6:57575867..57577390,2	K562	blood:
7	chr18:1906473..1906973-chr6:57539499..57540003,2	MCF-7	breast:
8	chr6:57541185..57543919-chr8:104728155..104729992,2	MCF-7	breast:
9	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-RAB23-12	chr6:57551484-57551584	NONHSAT113297
2	lnc-RAB23-13	chr6:57671339-57671489	NONHSAT113298
3	lnc-RAB23-12	chr6:57543887-57544127	NONHSAT113297
4	lnc-RAB23-13	chr6:57674277-57674350	NONHSAT113298

No data

Variant related genes	Relation type
ENSG00000263745	chromatin interactions

Extended variants
information (count: 5773 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:5773 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75983432	chr6:57516543-57516544	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528425032	chr6:57516553-57516554	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77075257	chr6:57516571-57516572	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76522574	chr6:57516600-57516601	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7745961	chr6:57516614-57516615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78443067	chr6:57516616-57516617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7745962	chr6:57516617-57516618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61424634	chr6:57516647-57516648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567874200	chr6:57516668-57516669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529058661	chr6:57516681-57516682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550634429	chr6:57516701-57516702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59659967	chr6:57516709-57516710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569267202	chr6:57516719-57516720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2397633	chr6:57516768-57516769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4498356	chr6:57516789-57516790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4298335	chr6:57516836-57516837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539803600	chr6:57516844-57516845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78370110	chr6:57516861-57516862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34506175	chr6:57516862-57516863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386407248	chr6:57516863-57516864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3038200	chr6:57516865-57516866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368704448	chr6:57516888-57516889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4323309	chr6:57516897-57516898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567149761	chr6:57516915-57516916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534534639	chr6:57516921-57516922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556102403	chr6:57516942-57516943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1855423	chr6:57516943-57516944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544840205	chr6:57516945-57516946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1855424	chr6:57516953-57516954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557004431	chr6:57516964-57516965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3857633	chr6:57516970-57516971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575274093	chr6:57516972-57516973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3895319	chr6:57516990-57516991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5876670	chr6:57517009-57517010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs33923191	chr6:57517010-57517011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138904532	chr6:57517011-57517012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397763769	chr6:57517015-57517016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368125455	chr6:57517016-57517017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4995559	chr6:57517030-57517031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1830745	chr6:57517033-57517034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1830744	chr6:57517034-57517035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563968835	chr6:57517042-57517043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528085620	chr6:57517064-57517065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs63042660	chr6:57517065-57517066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2397634	chr6:57517066-57517067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1810699	chr6:57517106-57517107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3857634	chr6:57517113-57517114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5876671	chr6:57517127-57517128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540091078	chr6:57517138-57517139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2397635	chr6:57517139-57517140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57503200-57517200	Weak transcription	GM12878-XiMat	blood
2	chr6:57511000-57517600	Weak transcription	Pancreas	Pancrea
3	chr6:57514600-57516600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:57516200-57516600	ZNF genes & repeats	Aorta	Aorta
5	chr6:57516200-57516600	Enhancers	Dnd41	blood
6	chr6:57516400-57516600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:57516600-57517600	Weak transcription	Aorta	Aorta
8	chr6:57517600-57517800	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr6:57517600-57517800	ZNF genes & repeats	Pancreas	Pancrea
10	chr6:57517600-57518200	ZNF genes & repeats	Aorta	Aorta
11	chr6:57517600-57518400	ZNF genes & repeats	NHLF	lung
12	chr6:57517800-57519200	Weak transcription	Pancreas	Pancrea
13	chr6:57519200-57519800	ZNF genes & repeats	Pancreas	Pancrea
14	chr6:57521200-57521800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:57521400-57521800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:57521800-57522000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:57521800-57524000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:57521800-57524200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:57522200-57522400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:57522200-57522600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:57522200-57522600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:57524000-57524800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:57524200-57524400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:57524200-57524400	ZNF genes & repeats	Aorta	Aorta
25	chr6:57524400-57525200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:57524400-57525200	Weak transcription	Aorta	Aorta
27	chr6:57525200-57525400	Bivalent Enhancer	Aorta	Aorta
28	chr6:57525200-57525400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr6:57525200-57526200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:57525200-57526400	Enhancers	Osteobl	bone
31	chr6:57525800-57526400	Active TSS	Fetal Heart	heart
32	chr6:57526200-57527600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:57527400-57527800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:57527600-57528200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:57529200-57529400	ZNF genes & repeats	Esophagus	oesophagus
36	chr6:57529200-57532600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:57530000-57530600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr6:57530000-57530600	ZNF genes & repeats	Fetal Lung	lung
39	chr6:57532200-57532800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:57532800-57533000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:57532800-57534200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:57533000-57538200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:57533400-57534000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:57534200-57534400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:57534200-57534400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:57534200-57534600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:57534200-57534600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr6:57534200-57534600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr6:57534200-57534600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:57534200-57534800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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