Variant report

Variant	esv2763951
Chromosome Location	chr6:120195400-120297444
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:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:120223179..120225783-chr6:120228744..120232023,3	MCF-7	breast:
2	chr6:120192431..120194416-chr6:120196295..120198241,2	MCF-7	breast:
3	chr6:120202928..120204713-chr6:120216019..120218723,2	MCF-7	breast:
4	chr6:120122144..120122728-chr6:120288699..120289710,3	MCF-7	breast:
5	chr6:120121858..120122652-chr6:120213627..120214297,2	MCF-7	breast:
6	chr6:120202928..120204713-chr6:120216019..120218723,2	MCF-7	breast:
7	chr6:120122117..120122728-chr6:120288699..120289670,3	MCF-7	breast:
8	chr6:120223179..120225783-chr6:120228744..120232023,3	MCF-7	breast:
9	chr6:120282161..120283990-chr6:120300493..120302186,2	K562	blood:
10	chr6:120191192..120193636-chr6:120195105..120196665,2	K562	blood:
11	chr6:119767806..119768327-chr6:120289096..120289698,2	MCF-7	breast:
12	chr6:119669559..119673383-chr6:120295131..120298974,3	MCF-7	breast:
13	chr6:120214425..120217294-chr6:120219373..120221684,2	MCF-7	breast:
14	chr6:120196935..120199435-chr6:120200694..120203566,2	K562	blood:
15	chr6:120214425..120217294-chr6:120219373..120221684,2	MCF-7	breast:
16	chr6:120119688..120120496-chr6:120288863..120289595,2	MCF-7	breast:
17	chr6:120196935..120199435-chr6:120200694..120203566,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASF1A-4	chr6:120200454-120200657	XLOC_005450
2	lnc-ASF1A-4	chr6:120201718-120201751	XLOC_005450

No data

Variant related genes	Relation type
ENSG00000111885	chromatin interactions
CUL2	miRNA target sites
CUEDC2	miRNA target sites

Extended variants
information (count: 2106 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:2106 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs885221	chr6:120195400-120195401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563629132	chr6:120195401-120195402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181809362	chr6:120195430-120195431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546206804	chr6:120195464-120195465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559750546	chr6:120195493-120195494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143868042	chr6:120195500-120195501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548549946	chr6:120195505-120195506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185343732	chr6:120195652-120195653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530999882	chr6:120195774-120195775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549891780	chr6:120195799-120195800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533314014	chr6:120195860-120195861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188093137	chr6:120195876-120195877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374799547	chr6:120195904-120195905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181453616	chr6:120195922-120195923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147272096	chr6:120195997-120195998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551770046	chr6:120196022-120196023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186483893	chr6:120196115-120196116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534928471	chr6:120196148-120196149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191725508	chr6:120196149-120196150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75610268	chr6:120196186-120196187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536824332	chr6:120196201-120196202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557466487	chr6:120196217-120196218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183576097	chr6:120196239-120196240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546292847	chr6:120196259-120196260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540811749	chr6:120196274-120196275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569803736	chr6:120196275-120196276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573232464	chr6:120196282-120196283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117053274	chr6:120196325-120196326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1330111	chr6:120196348-120196349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530027298	chr6:120196382-120196383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531160052	chr6:120196399-120196400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544463703	chr6:120196485-120196486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564303631	chr6:120196583-120196584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532098455	chr6:120196640-120196641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9387689	chr6:120196695-120196696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12194033	chr6:120196708-120196709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566172733	chr6:120196716-120196717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78741776	chr6:120196733-120196734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548492969	chr6:120196816-120196817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535123337	chr6:120196851-120196852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568250945	chr6:120196868-120196869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537320592	chr6:120196952-120196953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557216455	chr6:120196966-120196967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570615808	chr6:120197131-120197132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376737764	chr6:120197164-120197165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528667867	chr6:120197168-120197169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539947032	chr6:120197221-120197222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530418699	chr6:120197288-120197289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552327468	chr6:120197332-120197333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553493465	chr6:120197360-120197361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120187200-120201800	Weak transcription	HMEC	breast
2	chr6:120201800-120203000	Enhancers	HMEC	breast
3	chr6:120202000-120202600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:120202200-120203200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:120202200-120203200	Enhancers	NHEK	skin
6	chr6:120202400-120202600	Enhancers	Rectal Smooth Muscle	rectum
7	chr6:120202400-120202800	Enhancers	Colon Smooth Muscle	Colon
8	chr6:120202400-120203000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:120202400-120203200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:120202600-120202800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:120202600-120203000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:120202600-120203000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:120202600-120203000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:120202600-120203000	Active TSS	NHDF-Ad	bronchial
15	chr6:120202800-120203000	Enhancers	HSMM	muscle
16	chr6:120202800-120203200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:120202800-120205400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:120203000-120211200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:120205400-120205800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:120205400-120205800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr6:120205800-120207200	Enhancers	Dnd41	blood
22	chr6:120205800-120211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:120208600-120209000	Enhancers	Fetal Brain Female	brain
24	chr6:120210800-120211000	Enhancers	Fetal Heart	heart
25	chr6:120211000-120211400	Flanking Active TSS	Fetal Heart	heart
26	chr6:120211200-120211800	Enhancers	Rectal Smooth Muscle	rectum
27	chr6:120211200-120212600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:120211400-120211800	Enhancers	Fetal Heart	heart
29	chr6:120211400-120212200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:120211600-120212000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:120211600-120212400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:120211600-120212600	Enhancers	NHEK	skin
33	chr6:120211800-120212200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:120211800-120212200	Enhancers	Colon Smooth Muscle	Colon
35	chr6:120211800-120212200	Flanking Active TSS	Fetal Heart	heart
36	chr6:120211800-120212600	Enhancers	Placenta	Placenta
37	chr6:120212000-120216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:120212200-120212600	Enhancers	Fetal Heart	heart
39	chr6:120212200-120215800	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:120212400-120215200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:120212600-120215600	Weak transcription	Fetal Heart	heart
42	chr6:120212600-120216600	Weak transcription	Placenta	Placenta
43	chr6:120212600-120216800	Weak transcription	NHEK	skin
44	chr6:120215200-120215600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:120215400-120216800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr6:120215600-120216800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:120215600-120218200	Enhancers	Fetal Heart	heart
48	chr6:120215600-120218400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:120215800-120216200	Enhancers	Fetal Lung	lung
50	chr6:120215800-120216400	Enhancers	Colon Smooth Muscle	Colon

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