Variant report

Variant	nsv538451
Chromosome Location	chr6:140798377-140928132
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	chr6:140905860..140907615-chr6:140923172..140925767,2	K562	blood:
2	chr6:139694080..139696813-chr6:140857145..140860019,3	MCF-7	breast:
3	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
4	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
5	chr6:140919683..140922477-chr6:140922951..140925065,2	K562	blood:
6	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
7	chr6:140762424..140765135-chr6:140858930..140861399,3	MCF-7	breast:
8	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
9	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
10	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
11	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
12	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:
13	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
14	chr6:140859536..140862097-chr6:140864058..140865635,2	K562	blood:
15	chr6:140859536..140862097-chr6:140864058..140865635,2	K562	blood:
16	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
17	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
18	chr6:140858927..140861812-chr6:141885115..141886624,2	MCF-7	breast:
19	chr6:140773150..140776945-chr6:140859067..140862028,3	MCF-7	breast:
20	chr6:140912649..140915188-chr6:140915453..140918177,2	K562	blood:
21	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
22	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:
23	chr6:140858084..140862104-chr6:140862610..140866313,5	MCF-7	breast:
24	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
25	chr6:140919169..140921783-chr6:140922844..140925130,2	MCF-7	breast:
26	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
27	chr6:140905427..140908857-chr6:140910975..140913769,3	K562	blood:
28	chr6:140858084..140862104-chr6:140862610..140866313,5	MCF-7	breast:
29	chr6:140912649..140915188-chr6:140915453..140918177,2	K562	blood:
30	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
31	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
32	chr20:55766654..55769141-chr6:140857545..140859135,2	MCF-7	breast:
33	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
34	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
35	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
36	chr6:140919169..140921783-chr6:140922844..140925130,2	MCF-7	breast:
37	chr6:140905427..140908857-chr6:140910975..140913769,3	K562	blood:
38	chr6:140919683..140922477-chr6:140922951..140925065,2	K562	blood:
39	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
40	chr6:140905860..140907615-chr6:140923172..140925767,2	K562	blood:
41	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
42	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
43	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
44	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
45	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
46	chr6:140859129..140859897-chr8:105520075..105520755,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 2694 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2694 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554583630	chr6:140798564-140798565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536157662	chr6:140798579-140798580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558596619	chr6:140798607-140798608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554806183	chr6:140798627-140798628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574432611	chr6:140798731-140798732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576173294	chr6:140798746-140798747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376979523	chr6:140798800-140798801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543185062	chr6:140798866-140798867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76870680	chr6:140798904-140798905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576908997	chr6:140798930-140798931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541065234	chr6:140798933-140798934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559482618	chr6:140798941-140798942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530065030	chr6:140798975-140798976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542176044	chr6:140798996-140798997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181579231	chr6:140799085-140799086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148348876	chr6:140799098-140799099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373869542	chr6:140799113-140799114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547055330	chr6:140799124-140799125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374312095	chr6:140799172-140799173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552789121	chr6:140799190-140799191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565014522	chr6:140799204-140799205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532244047	chr6:140799276-140799277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114640455	chr6:140799286-140799287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572088922	chr6:140799306-140799307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201718717	chr6:140799381-140799382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565548597	chr6:140799437-140799438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536208743	chr6:140799469-140799470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185734532	chr6:140799509-140799510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540982522	chr6:140799513-140799514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569910959	chr6:140799518-140799519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536877213	chr6:140799552-140799553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558318137	chr6:140799592-140799593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199773546	chr6:140799595-140799596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369070208	chr6:140799613-140799614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576969888	chr6:140799651-140799652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143803989	chr6:140799673-140799674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543335066	chr6:140799681-140799682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17069978	chr6:140799684-140799685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145444957	chr6:140799717-140799718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542188670	chr6:140799718-140799719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373332498	chr6:140799721-140799722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563861102	chr6:140799811-140799812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111593717	chr6:140799827-140799828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs190981444	chr6:140799860-140799861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181973102	chr6:140799987-140799988	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs9389801	chr6:140800029-140800030	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368547572	chr6:140800053-140800054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552480524	chr6:140800059-140800060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559371150	chr6:140800068-140800069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532314100	chr6:140800096-140800097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140785200-140799800	Weak transcription	Osteobl	bone
2	chr6:140793800-140802000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:140796600-140807200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:140796800-140801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:140796800-140807000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:140799400-140809200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:140799800-140800200	ZNF genes & repeats	Osteobl	bone
8	chr6:140800200-140802000	Weak transcription	Osteobl	bone
9	chr6:140801200-140802200	Weak transcription	NHEK	skin
10	chr6:140801400-140802600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:140801600-140802400	Enhancers	Colon Smooth Muscle	Colon
12	chr6:140801800-140802000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:140801800-140802400	Enhancers	NHLF	lung
14	chr6:140802000-140802200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:140802000-140802400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:140802000-140802400	Enhancers	Adipose Nuclei	Adipose
17	chr6:140802000-140802400	Enhancers	Aorta	Aorta
18	chr6:140802000-140802400	Enhancers	Fetal Lung	lung
19	chr6:140802000-140802400	Enhancers	Fetal Muscle Leg	muscle
20	chr6:140802000-140802400	Enhancers	Rectal Smooth Muscle	rectum
21	chr6:140802000-140802400	Enhancers	Osteobl	bone
22	chr6:140802000-140802600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:140802200-140802400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:140802200-140802400	Enhancers	Esophagus	oesophagus
25	chr6:140802200-140802400	Enhancers	HSMM	muscle
26	chr6:140802200-140802400	Enhancers	NHDF-Ad	bronchial
27	chr6:140802200-140802600	Enhancers	NHEK	skin
28	chr6:140802400-140802600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:140802400-140805200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:140802400-140806000	Weak transcription	HSMM	muscle
31	chr6:140802400-140806000	Weak transcription	Osteobl	bone
32	chr6:140802400-140806600	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:140802400-140806600	Weak transcription	HMEC	breast
34	chr6:140802400-140807000	Weak transcription	NHLF	lung
35	chr6:140802400-140807600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:140802400-140809000	Weak transcription	Aorta	Aorta
37	chr6:140802600-140805600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:140802600-140805800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:140802600-140806800	Weak transcription	NHEK	skin
40	chr6:140802600-140807000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:140805200-140805800	Weak transcription	NHDF-Ad	bronchial
42	chr6:140805200-140806200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:140805200-140806400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:140805200-140807600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr6:140805200-140808400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:140805600-140807400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:140805800-140806000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr6:140805800-140806000	Enhancers	NHDF-Ad	bronchial
49	chr6:140805800-140806600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:140805800-140806600	Enhancers	A549	lung

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