Variant report

Variant	nsv5315
Chromosome Location	chr6:56752042-56798761
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56769038..56769893-chr6:57181008..57181695,4	K562	blood:
2	chr6:56777418..56779642-chr6:56786166..56787815,2	MCF-7	breast:
3	chr6:56770313..56772562-chr6:56773630..56775659,2	K562	blood:
4	chr6:56792046..56794849-chr6:56818085..56820101,2	K562	blood:
5	chr6:56786881..56788836-chr6:56814115..56815766,2	MCF-7	breast:
6	chr6:56767444..56768237-chr6:57180983..57181496,2	K562	blood:
7	chr6:56773281..56775523-chr6:56776609..56780879,5	K562	blood:
8	chr6:56785340..56787401-chr6:56789206..56791573,2	MCF-7	breast:
9	chr6:56767504..56768223-chr6:56819760..56820310,2	MCF-7	breast:
10	chr6:56767464..56768319-chr6:56820397..56821373,5	MCF-7	breast:
11	chr6:56785340..56787401-chr6:56789206..56791573,2	MCF-7	breast:
12	chr6:56767586..56771762-chr6:56818503..56821591,4	K562	blood:
13	chr6:56769451..56770050-chr6:56819340..56821302,7	MCF-7	breast:
14	chr6:56779944..56782895-chr6:56786364..56788046,2	MCF-7	breast:
15	chr6:56765319..56768240-chr6:56782219..56784389,2	K562	blood:
16	chr6:56768468..56773680-chr6:56817098..56821672,5	MCF-7	breast:
17	chr6:56775814..56778593-chr6:56816617..56819922,3	MCF-7	breast:
18	chr6:56767380..56768433-chr6:56825743..56826632,5	MCF-7	breast:
19	chr6:56777926..56779935-chr6:56789816..56792167,2	K562	blood:
20	chr6:56748598..56751509-chr6:56763693..56765656,2	K562	blood:
21	chr6:56769047..56769912-chr6:56885790..56886530,2	MCF-7	breast:
22	chr6:56763562..56765199-chr6:56770424..56772449,2	MCF-7	breast:
23	chr6:56772967..56775962-chr6:56913388..56915663,2	K562	blood:
24	chr6:56770313..56772562-chr6:56773630..56775659,2	K562	blood:
25	chr6:56777418..56779642-chr6:56786166..56787815,2	MCF-7	breast:
26	chr6:56779944..56782895-chr6:56786364..56788046,2	MCF-7	breast:
27	chr6:56773027..56775523-chr6:56776633..56778873,3	K562	blood:
28	chr6:56773281..56775523-chr6:56776609..56780879,5	K562	blood:
29	chr6:56767335..56769579-chr6:56770902..56774646,3	K562	blood:
30	chr6:56780041..56782514-chr6:56808634..56811006,2	K562	blood:
31	chr6:56763562..56765199-chr6:56770424..56772449,2	MCF-7	breast:
32	chr6:56769552..56770203-chr6:57189093..57189825,2	MCF-7	breast:
33	chr6:56773027..56775523-chr6:56776633..56778873,3	K562	blood:
34	chr1:182807964..182808769-chr6:56751629..56752198,2	MCF-7	breast:
35	chr6:56793845..56796346-chr6:150069714..150072289,2	MCF-7	breast:
36	chr6:56790222..56793074-chr6:56811865..56815272,3	K562	blood:
37	chr6:56765319..56768240-chr6:56782219..56784389,2	K562	blood:
38	chr6:56795022..56797639-chr6:56802844..56804905,2	K562	blood:
39	chr6:56766600..56772134-chr6:56817595..56821119,8	MCF-7	breast:
40	chr6:56777926..56779935-chr6:56789816..56792167,2	K562	blood:
41	chr6:56767335..56769579-chr6:56770902..56774646,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200224	chromatin interactions
ENSG00000151914	chromatin interactions
ENSG00000120265	chromatin interactions
ENSG00000120253	chromatin interactions
ENSG00000135829	chromatin interactions
ENSG00000151917	chromatin interactions

Extended variants
information (count: 1528 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554112634	chr6:56752069-56752070	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114228111	chr6:56752070-56752071	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140716777	chr6:56752072-56752073	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537958060	chr6:56752141-56752142	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs58905074	chr6:56752168-56752169	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116609308	chr6:56752224-56752225	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544845403	chr6:56752226-56752227	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75917700	chr6:56752269-56752270	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112415680	chr6:56752283-56752284	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542479443	chr6:56752370-56752371	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150494432	chr6:56752407-56752408	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576309972	chr6:56752415-56752416	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543794542	chr6:56752417-56752418	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531196767	chr6:56752424-56752425	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34714091	chr6:56752431-56752432	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs56008741	chr6:56752448-56752449	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527405850	chr6:56752535-56752536	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184867590	chr6:56752592-56752593	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576577270	chr6:56752594-56752595	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145183754	chr6:56752598-56752599	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149146235	chr6:56752639-56752640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189101323	chr6:56752644-56752645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537491652	chr6:56752657-56752658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528751281	chr6:56752752-56752753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549742214	chr6:56752798-56752799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545319589	chr6:56752818-56752819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547549964	chr6:56752851-56752852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113977157	chr6:56752898-56752899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565486130	chr6:56752906-56752907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553566518	chr6:56752937-56752938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111499277	chr6:56752973-56752974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9475743	chr6:56752998-56752999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181489182	chr6:56753013-56753014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116314642	chr6:56753049-56753050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576275368	chr6:56753052-56753053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543484149	chr6:56753093-56753094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547051080	chr6:56753122-56753123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567137671	chr6:56753218-56753219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532768308	chr6:56753275-56753276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371378465	chr6:56753277-56753278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550206237	chr6:56753324-56753325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559999786	chr6:56753352-56753353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530272541	chr6:56753389-56753390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548798989	chr6:56753401-56753402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184801951	chr6:56753444-56753445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369647581	chr6:56753458-56753459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531221010	chr6:56753477-56753478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60962957	chr6:56753505-56753506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539363199	chr6:56753531-56753532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189409678	chr6:56753533-56753534	Weak transcription Enhancers	n/a	n/a	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:788 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56734200-56755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:56734600-56755400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:56734800-56754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:56734800-56754400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:56736400-56755800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:56741200-56754600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:56741600-56754200	Weak transcription	NHLF	lung
8	chr6:56743400-56753400	Weak transcription	GM12878-XiMat	blood
9	chr6:56743600-56753800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:56749200-56769600	Weak transcription	Brain Angular Gyrus	brain
11	chr6:56750400-56753600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:56750600-56754400	Weak transcription	Osteobl	bone
13	chr6:56750800-56754600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:56751000-56754600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:56751200-56753800	Weak transcription	NHDF-Ad	bronchial
16	chr6:56751800-56752200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:56751800-56752400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:56751800-56752600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:56751800-56752600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:56751800-56752600	Enhancers	HSMMtube	muscle
21	chr6:56751800-56753600	Enhancers	Primary T cells from cord blood	blood
22	chr6:56752000-56752200	Enhancers	HSMM	muscle
23	chr6:56752000-56752400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:56752000-56752400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:56752000-56752400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:56752000-56752400	Enhancers	A549	lung
27	chr6:56752000-56752600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:56752000-56754800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:56752200-56753200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:56752200-56754800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:56752200-56754800	Weak transcription	HSMM	muscle
32	chr6:56752400-56752800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:56752400-56753400	Weak transcription	A549	lung
34	chr6:56752400-56767000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:56752600-56753000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:56752600-56753600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:56752600-56754200	Weak transcription	HSMMtube	muscle
38	chr6:56752600-56754400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr6:56752600-56755000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:56752800-56754600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr6:56753000-56754600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr6:56753000-56755600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:56753200-56753400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:56753200-56753800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:56753200-56753800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr6:56753200-56753800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:56753200-56753800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:56753200-56755000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:56753200-56756200	Enhancers	HUVEC	blood vessel
50	chr6:56753400-56754200	Enhancers	A549	lung

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