Variant report

Variant	nsv1015293
Chromosome Location	chr6:140544956-140798437
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:83)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:140637422..140640107-chr6:140640485..140642054,2	K562	blood:
2	chr6:140676306..140678846-chr6:140681431..140683957,3	MCF-7	breast:
3	chr6:140557553..140560335-chr6:140562655..140564870,3	K562	blood:
4	chr6:140661443..140663536-chr6:140664188..140666341,2	MCF-7	breast:
5	chr6:140566708..140568790-chr6:140577042..140579091,2	K562	blood:
6	chr6:140644644..140646808-chr6:140700050..140701868,2	MCF-7	breast:
7	chr6:140676306..140678846-chr6:140681431..140683957,3	MCF-7	breast:
8	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
9	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
10	chr6:140373569..140374771-chr6:140762117..140763007,5	MCF-7	breast:
11	chr6:140670786..140673738-chr6:140751539..140753328,2	K562	blood:
12	chr6:140637422..140640107-chr6:140640485..140642054,2	K562	blood:
13	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
14	chr6:140598425..140601795-chr6:140602514..140606441,4	K562	blood:
15	chr6:140588106..140590229-chr6:140592082..140594380,2	K562	blood:
16	chr6:139694253..139696855-chr6:140760707..140763686,3	MCF-7	breast:
17	chr6:140558826..140560857-chr6:140562655..140564583,2	K562	blood:
18	chr6:140661443..140663536-chr6:140664188..140666341,2	MCF-7	breast:
19	chr6:140617127..140621095-chr6:140621488..140626438,4	K562	blood:
20	chr6:140714565..140716677-chr6:140717350..140719283,2	K562	blood:
21	chr6:140689590..140691241-chr6:140698764..140700759,2	MCF-7	breast:
22	chr6:140762424..140765135-chr6:140858930..140861399,3	MCF-7	breast:
23	chr6:140591977..140594377-chr6:140599349..140601763,2	K562	blood:
24	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
25	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
26	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
27	chr6:140714565..140716677-chr6:140717350..140719283,2	K562	blood:
28	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
29	chr6:139979450..139981028-chr6:140707794..140709299,2	MCF-7	breast:
30	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
31	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
32	chr6:139694012..139695798-chr6:140707168..140709411,2	MCF-7	breast:
33	chr6:140598425..140601795-chr6:140602514..140606441,4	K562	blood:
34	chr6:139690498..139691306-chr6:140762196..140763003,2	MCF-7	breast:
35	chr6:139694299..139696526-chr6:140760601..140764243,4	MCF-7	breast:
36	chr6:140591977..140594377-chr6:140599349..140601763,2	K562	blood:
37	chr6:140533963..140536569-chr6:140568826..140570409,2	K562	blood:
38	chr6:140241965..140244669-chr6:140782881..140785815,2	MCF-7	breast:
39	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
40	chr17:73772532..73773143-chr6:140678898..140679418,2	HCT-116	colon:
41	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
42	chr6:140562032..140563790-chr6:140568097..140570245,2	K562	blood:
43	chr6:140562032..140563790-chr6:140568097..140570245,2	K562	blood:
44	chr6:140670488..140672458-chr6:140677865..140680641,2	K562	blood:
45	chr6:140642429..140644754-chr6:140647744..140650688,2	MCF-7	breast:
46	chr6:139694401..139696183-chr6:140607680..140609465,2	MCF-7	breast:
47	chr6:140588106..140590229-chr6:140592082..140594380,2	K562	blood:
48	chr6:140603362..140605964-chr6:140614298..140617143,2	K562	blood:
49	chr6:140642429..140644754-chr6:140647744..140650688,2	MCF-7	breast:
50	chr6:140763859..140766809-chr6:140781953..140784173,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions
ENSG00000122085	chromatin interactions

Extended variants
information (count: 7954 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:7954 , 50 per page) page: 1 2 3 4 5 6 7 ... 160

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181291391	chr6:140544987-140544988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528398032	chr6:140545017-140545018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527392115	chr6:140545021-140545022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145081692	chr6:140545046-140545047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375738917	chr6:140545057-140545058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540808905	chr6:140545061-140545062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568289129	chr6:140545071-140545072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1496112	chr6:140545114-140545115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs186800732	chr6:140545141-140545142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569217521	chr6:140545150-140545151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77015503	chr6:140545157-140545158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558209023	chr6:140545167-140545168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573269189	chr6:140545175-140545176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149124181	chr6:140545183-140545184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555743513	chr6:140545210-140545211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs118186545	chr6:140545239-140545240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145743103	chr6:140545263-140545264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191650398	chr6:140545267-140545268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138686912	chr6:140545299-140545300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575280164	chr6:140545304-140545305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545470972	chr6:140545311-140545312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563786596	chr6:140545373-140545374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569979163	chr6:140545409-140545410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528069840	chr6:140545417-140545418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546502540	chr6:140545433-140545434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561789293	chr6:140545460-140545461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539858578	chr6:140545465-140545466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529109801	chr6:140545480-140545481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537542666	chr6:140545484-140545485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146962534	chr6:140545510-140545511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116036151	chr6:140545552-140545553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183991816	chr6:140545571-140545572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532315296	chr6:140545590-140545591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551892910	chr6:140545628-140545629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187754523	chr6:140545776-140545777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148338156	chr6:140545916-140545917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201257688	chr6:140545931-140545932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141525132	chr6:140546003-140546004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200584492	chr6:140546010-140546011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56844000	chr6:140546029-140546030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200492821	chr6:140546030-140546031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398048892	chr6:140546031-140546032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200724306	chr6:140546032-140546033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574214954	chr6:140546058-140546059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538514967	chr6:140546060-140546061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150891276	chr6:140546117-140546118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373611728	chr6:140546191-140546192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577813866	chr6:140546237-140546238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545535368	chr6:140546260-140546261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190974343	chr6:140546307-140546308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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 myeloid leukemia	21251322	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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:1064 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140540200-140548400	Weak transcription	K562	blood
2	chr6:140545200-140547800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:140546400-140548000	Enhancers	HUVEC	blood vessel
4	chr6:140546600-140547400	Enhancers	NHLF	lung
5	chr6:140546600-140547600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:140546600-140548000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:140546800-140547400	Enhancers	Fetal Heart	heart
8	chr6:140546800-140547600	Enhancers	HSMM	muscle
9	chr6:140546800-140548000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:140547000-140547400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:140547000-140547400	Enhancers	NHDF-Ad	bronchial
12	chr6:140547000-140547600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:140547000-140547800	Enhancers	Rectal Smooth Muscle	rectum
14	chr6:140547000-140547800	Enhancers	Osteobl	bone
15	chr6:140547000-140548000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:140547400-140547800	Enhancers	HSMMtube	muscle
17	chr6:140548400-140548600	ZNF genes & repeats	K562	blood
18	chr6:140548600-140549600	Weak transcription	K562	blood
19	chr6:140552600-140553000	Weak transcription	Placenta	Placenta
20	chr6:140557600-140558400	Enhancers	Fetal Lung	lung
21	chr6:140557600-140558400	Enhancers	Fetal Stomach	stomach
22	chr6:140557600-140558800	Enhancers	Fetal Kidney	kidney
23	chr6:140557800-140558600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr6:140558000-140558600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:140558200-140559000	Enhancers	Colon Smooth Muscle	Colon
26	chr6:140563600-140569600	Weak transcription	Placenta	Placenta
27	chr6:140565000-140573200	Weak transcription	K562	blood
28	chr6:140566800-140567800	Enhancers	Stomach Mucosa	stomach
29	chr6:140569600-140570400	Strong transcription	Placenta	Placenta
30	chr6:140570400-140575600	Weak transcription	Placenta	Placenta
31	chr6:140572000-140572200	Enhancers	NHDF-Ad	bronchial
32	chr6:140572600-140573400	Weak transcription	NHDF-Ad	bronchial
33	chr6:140573200-140573800	Strong transcription	K562	blood
34	chr6:140573400-140573800	Enhancers	NHDF-Ad	bronchial
35	chr6:140573800-140574000	Weak transcription	NHDF-Ad	bronchial
36	chr6:140573800-140577600	Weak transcription	K562	blood
37	chr6:140574000-140574400	Enhancers	NHDF-Ad	bronchial
38	chr6:140576600-140578800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:140577200-140578000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:140577200-140578000	Enhancers	Hela-S3	cervix
41	chr6:140577200-140578400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr6:140577400-140578000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:140577400-140578000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:140577600-140578000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:140577600-140578600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:140577600-140578800	Enhancers	K562	blood
47	chr6:140577800-140578400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:140578000-140578400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:140578400-140578800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:140578400-140578800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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