Variant report

Variant	nsv886718
Chromosome Location	chr6:141003924-141149548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:141057542-141057722	K562	blood:	n/a	n/a
2	ATF1	chr6:141095400-141095672	K562	blood:	n/a	n/a
3	ATF1	chr6:141032327-141032490	K562	blood:	n/a	n/a
4	ATF2	chr6:141130615-141131385	GM12878	blood:	n/a	n/a
5	ATF2	chr6:141095239-141095755	GM12878	blood:	n/a	n/a
6	ATF2	chr6:141130657-141131259	GM12878	blood:	n/a	n/a
7	ATF2	chr6:141095241-141095760	GM12878	blood:	n/a	n/a
8	BACH1	chr6:141066249-141066420	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr6:141066206-141066385	K562	blood:	n/a	n/a
10	BATF	chr6:141095289-141095760	GM12878	blood:	n/a	chr6:141095560-141095570 chr6:141095559-141095570
11	BATF	chr6:141130673-141131290	GM12878	blood:	n/a	n/a
12	BATF	chr6:141095303-141095730	GM12878	blood:	n/a	chr6:141095560-141095570 chr6:141095559-141095570
13	BATF	chr6:141130703-141131094	GM12878	blood:	n/a	n/a
14	BATF	chr6:141065980-141066438	GM12878	blood:	n/a	chr6:141066245-141066256
15	BATF	chr6:141066029-141066341	GM12878	blood:	n/a	chr6:141066245-141066256
16	BCL11A	chr6:141079725-141079897	GM12878	blood:	n/a	n/a
17	BCL11A	chr6:141095345-141095639	GM12878	blood:	n/a	chr6:141095559-141095568 chr6:141095558-141095567
18	BCL11A	chr6:141130675-141131273	GM12878	blood:	n/a	n/a
19	BCL11A	chr6:141130716-141131254	GM12878	blood:	n/a	n/a
20	BCL11A	chr6:141095314-141095662	GM12878	blood:	n/a	chr6:141095559-141095568 chr6:141095558-141095567
21	BCL3	chr6:141130776-141131187	GM12878	blood:	n/a	n/a
22	BCL3	chr6:141095338-141095693	GM12878	blood:	n/a	chr6:141095559-141095568 chr6:141095558-141095567
23	BCLAF1	chr6:141130632-141131257	GM12878	blood:	n/a	n/a
24	BCLAF1	chr6:141095199-141095818	GM12878	blood:	n/a	chr6:141095559-141095568 chr6:141095558-141095567
25	BHLHE40	chr6:141032530-141032747	GM12878	blood:	n/a	n/a
26	CBX3	chr6:141068268-141068538	K562	blood:	n/a	n/a
27	CBX3	chr6:141095286-141095712	HCT-116	colon:	n/a	n/a
28	CBX3	chr6:141089349-141089584	K562	blood:	n/a	n/a
29	CCNT2	chr6:141006502-141006618	K562	blood:	n/a	n/a
30	CEBPB	chr6:141006465-141006576	HepG2	liver:	n/a	n/a
31	CEBPB	chr6:141006378-141006630	IMR90	lung:	n/a	n/a
32	CEBPB	chr6:141148750-141149052	HepG2	liver:	n/a	chr6:141148911-141148922
33	CEBPB	chr6:141111266-141111538	Hela-S3	cervix:	n/a	chr6:141111439-141111450
34	CEBPB	chr6:141124207-141124460	HepG2	liver:	n/a	chr6:141124283-141124294
35	CEBPB	chr6:141099244-141099539	HepG2	liver:	n/a	n/a
36	CEBPB	chr6:141111258-141111624	HepG2	liver:	n/a	chr6:141111439-141111450
37	CEBPB	chr6:141046992-141047275	HepG2	liver:	n/a	chr6:141047121-141047132
38	CEBPB	chr6:141023864-141024001	HepG2	liver:	n/a	n/a
39	CEBPB	chr6:141078966-141079686	K562	blood:	n/a	chr6:141079494-141079505
40	CEBPB	chr6:141046985-141047253	IMR90	lung:	n/a	chr6:141047121-141047132
41	CEBPB	chr6:141079019-141079692	Hela-S3	cervix:	n/a	chr6:141079494-141079505
42	CEBPB	chr6:141111286-141111595	A549	lung:	n/a	chr6:141111439-141111450
43	CEBPB	chr6:141078984-141079681	IMR90	lung:	n/a	chr6:141079494-141079505
44	CEBPB	chr6:141019569-141019573	K562	blood:	n/a	n/a
45	CEBPB	chr6:141140994-141141210	HepG2	liver:	n/a	chr6:141141070-141141083 chr6:141141070-141141083 chr6:141141071-141141082
46	CEBPB	chr6:141079352-141079659	A549	lung:	n/a	chr6:141079494-141079505
47	CEBPB	chr6:141078959-141079679	HepG2	liver:	n/a	chr6:141079494-141079505
48	CEBPB	chr6:141125414-141125719	HepG2	liver:	n/a	chr6:141125574-141125583 chr6:141125574-141125585 chr6:141125572-141125583
49	CEBPB	chr6:141079396-141079628	H1-hESC	embryonic stem cell:	n/a	chr6:141079494-141079505
50	CEBPB	chr6:141140936-141141171	K562	blood:	n/a	chr6:141141070-141141083 chr6:141141070-141141083 chr6:141141071-141141082

No.	Distal block	Cell Line	Cell type
1	chr6:141142470..141143996-chr6:141149245..141150819,2	K562	blood:
2	chr6:141069422..141072199-chr6:141082873..141085142,2	K562	blood:
3	chr6:141069422..141072199-chr6:141082873..141085142,2	K562	blood:
4	chr6:141041326..141043698-chr6:141051751..141054060,2	K562	blood:
5	chr2:225923916..225924696-chr6:141138966..141139702,2	MCF-7	breast:
6	chr6:141142470..141143996-chr6:141149245..141150819,2	K562	blood:
7	chr6:141041326..141043698-chr6:141051751..141054060,2	K562	blood:
8	chr6:141043491..141046275-chr6:141049561..141051082,2	MCF-7	breast:
9	chr6:141043491..141046275-chr6:141049561..141051082,2	MCF-7	breast:
10	chr6:141147468..141149344-chr6:141153230..141155525,2	K562	blood:
11	chr6:140995862..140998424-chr6:141006767..141008386,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJE1-8	chr6:141082666-141083399	NONHSAT115287
2	lnc-NMBR-2	chr6:141128740-141128958	NONHSAT115288
3	lnc-NMBR-2	chr6:141137269-141138214	NONHSAT115288

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4465	chr6:141004992-141005013	MIMAT0018992

Variant related genes	Relation type
RPS3AP24	TF binding region
MIR4465	TF binding region

Extended variants
information (count: 4048 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4048 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55662331	chr6:141003924-141003925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527954956	chr6:141003956-141003957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549682700	chr6:141003958-141003959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561593487	chr6:141003966-141003967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531731763	chr6:141004001-141004002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550236753	chr6:141004028-141004029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571672884	chr6:141004036-141004037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371190447	chr6:141004061-141004062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538761932	chr6:141004089-141004090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374506879	chr6:141004096-141004097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551527821	chr6:141004106-141004107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12208640	chr6:141004124-141004125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12201517	chr6:141004131-141004132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537773967	chr6:141004145-141004146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12201523	chr6:141004166-141004167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557510874	chr6:141004176-141004177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577465621	chr6:141004180-141004181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12201573	chr6:141004201-141004202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534255006	chr6:141004211-141004212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553986631	chr6:141004215-141004216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11155120	chr6:141004236-141004237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9403200	chr6:141004271-141004272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9403201	chr6:141004306-141004307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183354823	chr6:141004316-141004317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71015687	chr6:141004341-141004342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186802885	chr6:141004347-141004348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555896579	chr6:141004350-141004351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149323595	chr6:141004351-141004352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191262989	chr6:141004382-141004383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143623794	chr6:141004386-141004387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183053259	chr6:141004395-141004396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9399331	chr6:141004400-141004401	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs561554056	chr6:141004401-141004402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532050759	chr6:141004405-141004406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543754218	chr6:141004406-141004407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116795862	chr6:141004407-141004408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188140256	chr6:141004425-141004426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547560479	chr6:141004430-141004431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565864861	chr6:141004434-141004435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527480416	chr6:141004436-141004437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548806782	chr6:141004447-141004448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567183496	chr6:141004462-141004463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527890190	chr6:141004466-141004467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12182236	chr6:141004485-141004486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556089488	chr6:141004496-141004497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571140381	chr6:141004508-141004509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558223191	chr6:141004513-141004514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538655848	chr6:141004526-141004527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192627861	chr6:141004527-141004528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546633013	chr6:141004530-141004531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140993200-141015400	Weak transcription	Placenta	Placenta
2	chr6:141004800-141005000	Enhancers	Esophagus	oesophagus
3	chr6:141006000-141006400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:141006000-141006600	Enhancers	HUVEC	blood vessel
5	chr6:141018600-141019200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:141029200-141030000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:141029200-141030400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:141029200-141030400	Enhancers	Fetal Lung	lung
9	chr6:141029400-141029800	Enhancers	Brain Substantia Nigra	brain
10	chr6:141029400-141030000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:141029400-141030400	Enhancers	Fetal Stomach	stomach
12	chr6:141029600-141030000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:141029600-141030000	Enhancers	HSMMtube	muscle
14	chr6:141029600-141030200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:141029800-141030000	Enhancers	Fetal Heart	heart
16	chr6:141030600-141031200	Active TSS	Fetal Heart	heart
17	chr6:141032000-141033200	Enhancers	Primary B cells from cord blood	blood
18	chr6:141032600-141032800	Enhancers	GM12878-XiMat	blood
19	chr6:141038800-141039400	Enhancers	Ovary	ovary
20	chr6:141039000-141039200	Enhancers	Adipose Nuclei	Adipose
21	chr6:141039000-141039400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:141039200-141039400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:141041800-141042000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:141042000-141050600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:141046200-141049200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:141047400-141047600	Enhancers	NHDF-Ad	bronchial
27	chr6:141047600-141054800	Weak transcription	NHDF-Ad	bronchial
28	chr6:141049800-141051800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr6:141050200-141051200	Enhancers	Primary T cells from cord blood	blood
30	chr6:141050600-141051000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:141051000-141052600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:141051200-141051800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:141051600-141051800	Enhancers	Psoas Muscle	Psoas
34	chr6:141051800-141053000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:141052400-141053800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:141052600-141052800	Enhancers	Osteobl	bone
37	chr6:141052600-141053200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr6:141052600-141053400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:141052800-141053200	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:141053000-141053600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:141053200-141057600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr6:141053400-141057200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:141053800-141057400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:141054600-141055000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:141054800-141055200	Enhancers	NHDF-Ad	bronchial
46	chr6:141054800-141055200	Enhancers	Osteobl	bone
47	chr6:141055000-141057200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:141055200-141057200	Weak transcription	Osteobl	bone
49	chr6:141055200-141057600	Weak transcription	NHDF-Ad	bronchial
50	chr6:141057200-141057800	Enhancers	Fetal Kidney	kidney

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