Variant report

Variant	nsv604767
Chromosome Location	chr6:140701423-140816108
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140763859..140766809-chr6:140781953..140784173,2	MCF-7	breast:
2	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
3	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
4	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
5	chr6:140763859..140766809-chr6:140781953..140784173,2	MCF-7	breast:
6	chr6:140202585..140203697-chr6:140762103..140763026,6	MCF-7	breast:
7	chr6:139979450..139981028-chr6:140707794..140709299,2	MCF-7	breast:
8	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
9	chr6:140644644..140646808-chr6:140700050..140701868,2	MCF-7	breast:
10	chr6:140718875..140720983-chr6:140765864..140768587,2	K562	blood:
11	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
12	chr6:139694012..139695798-chr6:140707168..140709411,2	MCF-7	breast:
13	chr6:140714565..140716677-chr6:140717350..140719283,2	K562	blood:
14	chr6:140757123..140759381-chr6:140760081..140761694,2	K562	blood:
15	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
16	chr6:139690498..139691306-chr6:140762196..140763003,2	MCF-7	breast:
17	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
18	chr6:139694253..139696855-chr6:140760707..140763686,3	MCF-7	breast:
19	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
20	chr6:139694272..139697265-chr6:140755488..140757218,2	MCF-7	breast:
21	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
22	chr6:140670786..140673738-chr6:140751539..140753328,2	K562	blood:
23	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
24	chr6:140773150..140776945-chr6:140859067..140862028,3	MCF-7	breast:
25	chr6:139694299..139696526-chr6:140760601..140764243,4	MCF-7	breast:
26	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
27	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
28	chr6:140714565..140716677-chr6:140717350..140719283,2	K562	blood:
29	chr6:140718875..140720983-chr6:140765864..140768587,2	K562	blood:
30	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
31	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
32	chr6:139689542..139691996-chr6:140762311..140765261,2	MCF-7	breast:
33	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
34	chr6:140373569..140374771-chr6:140762117..140763007,5	MCF-7	breast:
35	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
36	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
37	chr6:140425138..140426715-chr6:140748636..140750247,2	K562	blood:
38	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
39	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
40	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
41	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
42	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
43	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
44	chr6:140757123..140759381-chr6:140760081..140761694,2	K562	blood:
45	chr6:140762424..140765135-chr6:140858930..140861399,3	MCF-7	breast:
46	chr6:140241965..140244669-chr6:140782881..140785815,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 3854 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3854 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11155111	chr6:140701423-140701424	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530491172	chr6:140701477-140701478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552191500	chr6:140701511-140701512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs11155112	chr6:140701518-140701519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528315508	chr6:140701615-140701616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546813194	chr6:140701630-140701631	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568594505	chr6:140701631-140701632	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535935202	chr6:140701638-140701639	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139354536	chr6:140701753-140701754	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369076857	chr6:140701766-140701767	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569177276	chr6:140701770-140701771	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs9495690	chr6:140701791-140701792	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs184549071	chr6:140701812-140701813	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188962587	chr6:140701825-140701826	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9484370	chr6:140701826-140701827	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534171262	chr6:140701879-140701880	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555520698	chr6:140701901-140701902	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150048351	chr6:140701951-140701952	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192577490	chr6:140701964-140701965	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185060210	chr6:140701977-140701978	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575140183	chr6:140701980-140701981	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551366947	chr6:140701995-140701996	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145396607	chr6:140702013-140702014	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564269545	chr6:140702015-140702016	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs528372205	chr6:140702070-140702071	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs374436003	chr6:140702075-140702076	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs148807165	chr6:140702160-140702161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369485535	chr6:140702168-140702169	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114636510	chr6:140702203-140702204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13214458	chr6:140702211-140702212	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551101144	chr6:140702295-140702296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569296368	chr6:140702304-140702305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539492568	chr6:140702323-140702324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551750414	chr6:140702360-140702361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111688069	chr6:140702413-140702414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567081613	chr6:140702423-140702424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190557736	chr6:140702460-140702461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555606753	chr6:140702481-140702482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181073693	chr6:140702519-140702520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542417761	chr6:140702534-140702535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538008910	chr6:140702566-140702567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556818902	chr6:140702615-140702616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575294347	chr6:140702696-140702697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201900852	chr6:140702697-140702698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142820940	chr6:140702704-140702705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112286795	chr6:140702708-140702709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62429783	chr6:140702709-140702710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7756785	chr6:140702736-140702737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs67648873	chr6:140702739-140702740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185915715	chr6:140702745-140702746	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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140700000-140704000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:140700200-140702800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:140700400-140702600	Enhancers	Fetal Intestine Small	intestine
4	chr6:140700400-140702600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:140700600-140702000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:140700600-140702400	Enhancers	NHDF-Ad	bronchial
7	chr6:140700800-140703600	Weak transcription	Placenta	Placenta
8	chr6:140701200-140701600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:140701200-140701600	Weak transcription	NHLF	lung
10	chr6:140701200-140701800	Enhancers	Liver	Liver
11	chr6:140701200-140702200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:140701200-140702200	Flanking Active TSS	HepG2	liver
13	chr6:140701200-140702600	Enhancers	Osteobl	bone
14	chr6:140701200-140702800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:140701200-140703000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:140701400-140702200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:140701400-140702600	Enhancers	Fetal Intestine Large	intestine
18	chr6:140701400-140704200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr6:140701600-140703800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:140701600-140703800	Enhancers	NHLF	lung
21	chr6:140701800-140702000	Flanking Active TSS	Liver	Liver
22	chr6:140701800-140702000	Enhancers	Pancreas	Pancrea
23	chr6:140701800-140702600	Enhancers	HMEC	breast
24	chr6:140702000-140702800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:140702000-140703000	Enhancers	Liver	Liver
26	chr6:140702200-140703600	Enhancers	HepG2	liver
27	chr6:140702400-140702800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:140702400-140708800	Weak transcription	NHDF-Ad	bronchial
29	chr6:140702600-140708800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:140702800-140703200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr6:140702800-140703600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:140702800-140705800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:140703000-140703600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:140703200-140703800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr6:140703400-140704000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:140703600-140703800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:140703600-140703800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:140703600-140704000	Enhancers	Placenta	Placenta
39	chr6:140703800-140706000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:140703800-140708600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:140704000-140706000	Weak transcription	Placenta	Placenta
42	chr6:140705800-140706400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:140706000-140706800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:140706000-140706800	ZNF genes & repeats	Liver	Liver
45	chr6:140706000-140709200	Enhancers	Placenta	Placenta
46	chr6:140706200-140706600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:140706200-140707000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:140706400-140706600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:140706400-140727000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:140706600-140714600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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