Variant report

Variant	nsv604771
Chromosome Location	chr6:140801497-140895423
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
2	chr6:140858084..140862104-chr6:140862610..140866313,5	MCF-7	breast:
3	chr6:140859536..140862097-chr6:140864058..140865635,2	K562	blood:
4	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
5	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:
6	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
7	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
8	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
9	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
10	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
11	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
12	chr6:139694080..139696813-chr6:140857145..140860019,3	MCF-7	breast:
13	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
14	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
15	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
16	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
17	chr6:140762424..140765135-chr6:140858930..140861399,3	MCF-7	breast:
18	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
19	chr20:55766654..55769141-chr6:140857545..140859135,2	MCF-7	breast:
20	chr6:140858927..140861812-chr6:141885115..141886624,2	MCF-7	breast:
21	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
22	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
23	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
24	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
25	chr6:140858084..140862104-chr6:140862610..140866313,5	MCF-7	breast:
26	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
27	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:
28	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
29	chr6:140859536..140862097-chr6:140864058..140865635,2	K562	blood:
30	chr6:140859129..140859897-chr8:105520075..105520755,2	MCF-7	breast:
31	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
32	chr6:140773150..140776945-chr6:140859067..140862028,3	MCF-7	breast:
33	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
34	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 1856 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1856 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9403183	chr6:140801497-140801498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200255481	chr6:140801503-140801504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186356628	chr6:140801599-140801600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539814149	chr6:140801607-140801608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558515935	chr6:140801617-140801618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374591123	chr6:140801628-140801629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190077074	chr6:140801650-140801651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555923341	chr6:140801672-140801673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1855946	chr6:140801680-140801681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183081449	chr6:140801681-140801682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114503673	chr6:140801735-140801736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553301664	chr6:140801740-140801741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530453402	chr6:140801748-140801749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372744396	chr6:140801837-140801838	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545380266	chr6:140801874-140801875	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368399296	chr6:140801964-140801965	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564083966	chr6:140801970-140801971	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548281671	chr6:140802001-140802002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187411615	chr6:140802019-140802020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565725816	chr6:140802036-140802037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534444500	chr6:140802083-140802084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148450270	chr6:140802104-140802105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568256408	chr6:140802110-140802111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529046042	chr6:140802125-140802126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551115474	chr6:140802200-140802201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569350648	chr6:140802228-140802229	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192058758	chr6:140802250-140802251	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142636011	chr6:140802264-140802265	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111928006	chr6:140802281-140802282	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534507453	chr6:140802334-140802335	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574079738	chr6:140802378-140802379	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543044161	chr6:140802419-140802420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35323146	chr6:140802426-140802427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556835554	chr6:140802481-140802482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11969548	chr6:140802561-140802562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577102392	chr6:140802614-140802615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141136777	chr6:140802627-140802628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538034614	chr6:140802701-140802702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556674307	chr6:140802725-140802726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574987925	chr6:140802776-140802777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117648355	chr6:140802841-140802842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563742343	chr6:140802870-140802871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11759660	chr6:140802897-140802898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183512624	chr6:140802907-140802908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144565496	chr6:140802917-140802918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371748554	chr6:140803019-140803020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529113638	chr6:140803076-140803077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528557395	chr6:140803078-140803079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550778818	chr6:140803134-140803135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542356311	chr6:140803138-140803139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Schizophrenia	20967226	CNVD

Chromatin state (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140793800-140802000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:140796600-140807200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:140796800-140807000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:140799400-140809200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:140800200-140802000	Weak transcription	Osteobl	bone
6	chr6:140801200-140802200	Weak transcription	NHEK	skin
7	chr6:140801400-140802600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:140801600-140802400	Enhancers	Colon Smooth Muscle	Colon
9	chr6:140801800-140802000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:140801800-140802400	Enhancers	NHLF	lung
11	chr6:140802000-140802200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:140802000-140802400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:140802000-140802400	Enhancers	Adipose Nuclei	Adipose
14	chr6:140802000-140802400	Enhancers	Aorta	Aorta
15	chr6:140802000-140802400	Enhancers	Fetal Lung	lung
16	chr6:140802000-140802400	Enhancers	Fetal Muscle Leg	muscle
17	chr6:140802000-140802400	Enhancers	Rectal Smooth Muscle	rectum
18	chr6:140802000-140802400	Enhancers	Osteobl	bone
19	chr6:140802000-140802600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:140802200-140802400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:140802200-140802400	Enhancers	Esophagus	oesophagus
22	chr6:140802200-140802400	Enhancers	HSMM	muscle
23	chr6:140802200-140802400	Enhancers	NHDF-Ad	bronchial
24	chr6:140802200-140802600	Enhancers	NHEK	skin
25	chr6:140802400-140802600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:140802400-140805200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:140802400-140806000	Weak transcription	HSMM	muscle
28	chr6:140802400-140806000	Weak transcription	Osteobl	bone
29	chr6:140802400-140806600	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:140802400-140806600	Weak transcription	HMEC	breast
31	chr6:140802400-140807000	Weak transcription	NHLF	lung
32	chr6:140802400-140807600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:140802400-140809000	Weak transcription	Aorta	Aorta
34	chr6:140802600-140805600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:140802600-140805800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:140802600-140806800	Weak transcription	NHEK	skin
37	chr6:140802600-140807000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:140805200-140805800	Weak transcription	NHDF-Ad	bronchial
39	chr6:140805200-140806200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:140805200-140806400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:140805200-140807600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:140805200-140808400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:140805600-140807400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:140805800-140806000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr6:140805800-140806000	Enhancers	NHDF-Ad	bronchial
46	chr6:140805800-140806600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:140805800-140806600	Enhancers	A549	lung
48	chr6:140805800-140808400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:140805800-140808400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:140805800-140808400	Enhancers	HSMMtube	muscle

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