Variant report

Variant	nsv432965
Chromosome Location	chr6:140692307-140866307
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:75)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
2	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
3	chr6:140689590..140691241-chr6:140698764..140700759,2	MCF-7	breast:
4	chr6:139694272..139697265-chr6:140755488..140757218,2	MCF-7	breast:
5	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
6	chr6:140858927..140861812-chr6:141885115..141886624,2	MCF-7	breast:
7	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:
8	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
9	chr6:139694012..139695798-chr6:140707168..140709411,2	MCF-7	breast:
10	chr6:140644644..140646808-chr6:140700050..140701868,2	MCF-7	breast:
11	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
12	chr6:140718875..140720983-chr6:140765864..140768587,2	K562	blood:
13	chr6:140202585..140203697-chr6:140762103..140763026,6	MCF-7	breast:
14	chr6:139689542..139691996-chr6:140762311..140765261,2	MCF-7	breast:
15	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
16	chr6:140373569..140374771-chr6:140762117..140763007,5	MCF-7	breast:
17	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
18	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
19	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
20	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
21	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
22	chr6:140858084..140862104-chr6:140862610..140866313,5	MCF-7	breast:
23	chr20:55766654..55769141-chr6:140857545..140859135,2	MCF-7	breast:
24	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
25	chr6:140241965..140244669-chr6:140782881..140785815,2	MCF-7	breast:
26	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
27	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
28	chr6:139690498..139691306-chr6:140762196..140763003,2	MCF-7	breast:
29	chr6:140762424..140765135-chr6:140858930..140861399,3	MCF-7	breast:
30	chr6:140757123..140759381-chr6:140760081..140761694,2	K562	blood:
31	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
32	chr6:140714565..140716677-chr6:140717350..140719283,2	K562	blood:
33	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
34	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
35	chr6:140859129..140859897-chr8:105520075..105520755,2	MCF-7	breast:
36	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
37	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
38	chr6:140773150..140776945-chr6:140859067..140862028,3	MCF-7	breast:
39	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
40	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
41	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
42	chr6:140773150..140776945-chr6:140859067..140862028,3	MCF-7	breast:
43	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
44	chr6:140670786..140673738-chr6:140751539..140753328,2	K562	blood:
45	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
46	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
47	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
48	chr6:139694299..139696526-chr6:140760601..140764243,4	MCF-7	breast:
49	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
50	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 4878 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4878 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1977772	chr6:140692308-140692309	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553522999	chr6:140692328-140692329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374488035	chr6:140692354-140692355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565687247	chr6:140692355-140692356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78366346	chr6:140692429-140692430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188579749	chr6:140692491-140692492	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554445449	chr6:140692524-140692525	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75545564	chr6:140692532-140692533	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4896510	chr6:140692557-140692558	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181038446	chr6:140692561-140692562	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577292742	chr6:140692584-140692585	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35468446	chr6:140692590-140692591	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541499061	chr6:140692639-140692640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562640435	chr6:140692727-140692728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559554417	chr6:140692826-140692827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530109486	chr6:140692841-140692842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541817952	chr6:140692843-140692844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13204703	chr6:140692862-140692863	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369769090	chr6:140692863-140692864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367647236	chr6:140692928-140692929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372915227	chr6:140692929-140692930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200026724	chr6:140692931-140692932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368480331	chr6:140692934-140692935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371874715	chr6:140692936-140692937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367662462	chr6:140692937-140692938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35922523	chr6:140692938-140692939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57444059	chr6:140692939-140692940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531228933	chr6:140692946-140692947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552834165	chr6:140692953-140692954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565369045	chr6:140693096-140693097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371206257	chr6:140693124-140693125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114286846	chr6:140693147-140693148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185359775	chr6:140693149-140693150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9484366	chr6:140693181-140693182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565589724	chr6:140693199-140693200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536250958	chr6:140693280-140693281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547772401	chr6:140693282-140693283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189843106	chr6:140693285-140693286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536924616	chr6:140693327-140693328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558363062	chr6:140693357-140693358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116770693	chr6:140693382-140693383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75053177	chr6:140693390-140693391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181759869	chr6:140693407-140693408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574829051	chr6:140693449-140693450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527828772	chr6:140693452-140693453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35467236	chr6:140693507-140693508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542291160	chr6:140693517-140693518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547745021	chr6:140693531-140693532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35927834	chr6:140693566-140693567	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530293955	chr6:140693622-140693623	Enhancers 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 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
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:986 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140688400-140692400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:140691600-140692400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:140691800-140693000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:140692000-140692800	Enhancers	HSMMtube	muscle
5	chr6:140692000-140693600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:140692200-140692400	Enhancers	Fetal Heart	heart
7	chr6:140692200-140692400	Enhancers	NHLF	lung
8	chr6:140692200-140692600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:140692200-140692600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:140692200-140692600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:140692200-140692600	Enhancers	HSMM	muscle
12	chr6:140692200-140692800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:140692200-140693000	Enhancers	Osteobl	bone
14	chr6:140692200-140693600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:140692200-140693600	Enhancers	NHDF-Ad	bronchial
16	chr6:140692200-140693800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:140692400-140692600	Flanking Active TSS	Fetal Heart	heart
18	chr6:140692400-140692800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:140692400-140692800	Enhancers	Fetal Brain Male	brain
20	chr6:140692400-140693200	Weak transcription	NHLF	lung
21	chr6:140692400-140693400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:140692400-140693600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:140692400-140693800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:140692600-140692800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:140692600-140693600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:140692600-140693600	Enhancers	Fetal Heart	heart
27	chr6:140692800-140693000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:140692800-140693600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:140693000-140693600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:140693000-140696200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:140693200-140693400	Enhancers	NHLF	lung
32	chr6:140693200-140693800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:140693400-140693600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:140693400-140700200	Weak transcription	NHLF	lung
35	chr6:140693600-140697000	Weak transcription	Fetal Heart	heart
36	chr6:140693600-140701200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:140699600-140699800	Enhancers	Fetal Intestine Small	intestine
38	chr6:140699800-140700400	Weak transcription	Fetal Intestine Small	intestine
39	chr6:140699800-140701200	Enhancers	HepG2	liver
40	chr6:140700000-140704000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:140700200-140701000	Enhancers	Fetal Intestine Large	intestine
42	chr6:140700200-140701200	Enhancers	NHLF	lung
43	chr6:140700200-140702800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:140700400-140702600	Enhancers	Fetal Intestine Small	intestine
45	chr6:140700400-140702600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr6:140700600-140700800	Enhancers	Placenta	Placenta
47	chr6:140700600-140701200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:140700600-140702000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:140700600-140702400	Enhancers	NHDF-Ad	bronchial
50	chr6:140700800-140703600	Weak transcription	Placenta	Placenta

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