Variant report

Variant	nsv1020322
Chromosome Location	chr6:127087551-127331285
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:16)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:127092006..127094509-chr6:127124615..127126462,2	K562	blood:
2	chr6:127125450..127126037-chr6:127391093..127391616,2	MCF-7	breast:
3	chr6:127092006..127094509-chr6:127124615..127126462,2	K562	blood:
4	chr6:127220856..127223516-chr6:127223689..127225199,2	K562	blood:
5	chr6:127330005..127332407-chr6:127333706..127335754,2	K562	blood:
6	chr6:127125221..127126031-chr6:127442313..127442930,2	MCF-7	breast:
7	chr6:127253610..127256481-chr6:127266019..127267595,2	K562	blood:
8	chr6:127197290..127198896-chr6:127203788..127205525,2	MCF-7	breast:
9	chr6:127253610..127256481-chr6:127266019..127267595,2	K562	blood:
10	chr6:127087772..127089508-chr6:127090655..127092887,2	K562	blood:
11	chr6:127087772..127089508-chr6:127090655..127092887,2	K562	blood:
12	chr6:127220856..127223516-chr6:127223689..127225199,2	K562	blood:
13	chr19:10229860..10230750-chr6:127181101..127181893,2	MCF-7	breast:
14	chr6:127125498..127126121-chr6:127442250..127443238,2	MCF-7	breast:
15	chr6:127197290..127198896-chr6:127203788..127205525,2	MCF-7	breast:
16	chr6:127082723..127085297-chr6:127087284..127089747,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSPO3-1	chr6:127198771-127198827	XLOC_005460
2	lnc-ECHDC1-4	chr6:127306224-127306446	ucscGeneNc_uc003qaq_1
3	lnc-ECHDC1-4	chr6:127251054-127251176	ucscGeneNc_uc003qaq_1
4	lnc-ECHDC1-1	chr6:127201325-127201692	NONHSAT114838
5	lnc-ECHDC1-4	chr6:127182230-127182352	ucscGeneNc_uc003qaq_1
6	lnc-ECHDC1-3	chr6:127194297-127194415	NONHSAT114835
7	lnc-ECHDC1-1	chr6:127209361-127209483	ENSG00000248650
8	lnc-ECHDC1-1	chr6:127240984-127241220	NONHSAT114839
9	lnc-RSPO3-1	chr6:127198770-127198827	NONHSAT114836
10	lnc-ECHDC1-1	chr6:127264531-127264753	ENSG00000248650
11	lnc-ECHDC1-1	chr6:127231988-127232163	NONHSAT114839
12	lnc-RSPO3-1	chr6:127195166-127195294	XLOC_005460
13	lnc-ECHDC1-4	chr6:127282398-127282484	ucscGeneNc_uc003qaq_1
14	lnc-RSPO3-1	chr6:127198480-127198675	XLOC_005460
15	lnc-ECHDC1-3	chr6:127185939-127186836	NONHSAT114835
16	lnc-ECHDC1-3	chr6:127176632-127176959	NONHSAT114834
17	lnc-ECHDC1-1	chr6:127209361-127209804	NONHSAT114838
18	lnc-ECHDC1-1	chr6:127140537-127140659	ENSG00000248650
19	lnc-ECHDC1-3	chr6:127194297-127194420	NONHSAT114834
20	lnc-ECHDC1-1	chr6:127240705-127240791	NONHSAT114839
21	lnc-ECHDC1-1	chr6:127240705-127240791	ENSG00000248650
22	lnc-RSPO3-1	chr6:127198479-127198675	NONHSAT114836
23	lnc-RSPO3-1	chr6:127195165-127195294	NONHSAT114836

No data

Variant related genes	Relation type
ENSG00000130811	chromatin interactions
SH3PXD2B	miRNA target sites
SOX9	miRNA target sites
UHRF1	miRNA target sites
MKI67	miRNA target sites

Extended variants
information (count: 5251 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:5251 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144535048	chr6:127087562-127087563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193203604	chr6:127087584-127087585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555029323	chr6:127087594-127087595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573182713	chr6:127087617-127087618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185481792	chr6:127087632-127087633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77419916	chr6:127087722-127087723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558956074	chr6:127087772-127087773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189607758	chr6:127087819-127087820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544873023	chr6:127087827-127087828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146605204	chr6:127087861-127087862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73773135	chr6:127087961-127087962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542386679	chr6:127088016-127088017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73773136	chr6:127088117-127088118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528141320	chr6:127088174-127088175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78545950	chr6:127088176-127088177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191299905	chr6:127088191-127088192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143655168	chr6:127088198-127088199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532321794	chr6:127088201-127088202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550454058	chr6:127088204-127088205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112644511	chr6:127088210-127088211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368902672	chr6:127088224-127088225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202175969	chr6:127088227-127088228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574502060	chr6:127088229-127088230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141369995	chr6:127088236-127088237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373088865	chr6:127088239-127088240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144597088	chr6:127088240-127088241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12662972	chr6:127088244-127088245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368982903	chr6:127088256-127088257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112417747	chr6:127088264-127088265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372726893	chr6:127088291-127088292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377429591	chr6:127088298-127088299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370421667	chr6:127088300-127088301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72971190	chr6:127088303-127088304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374778340	chr6:127088304-127088305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72971192	chr6:127088318-127088319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564394725	chr6:127088333-127088334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188480531	chr6:127088429-127088430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181300683	chr6:127088439-127088440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558994660	chr6:127088446-127088447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375370489	chr6:127088473-127088474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113377779	chr6:127088514-127088515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541307385	chr6:127088533-127088534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4897189	chr6:127088550-127088551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs9385404	chr6:127088591-127088592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs73773137	chr6:127088628-127088629	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542424881	chr6:127088665-127088666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559468370	chr6:127088675-127088676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76099045	chr6:127088691-127088692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572900329	chr6:127088697-127088698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530261835	chr6:127088741-127088742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	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
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21958427	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127085400-127094200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:127085600-127088600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:127086600-127088600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:127087600-127087800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:127087800-127088000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:127087800-127094600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:127088000-127089800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:127088600-127089200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:127088600-127089600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:127089000-127089200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:127089400-127094400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:127089800-127090200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:127089800-127090600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:127090200-127094000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:127090600-127094200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:127092200-127094200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:127092400-127095800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:127093200-127093600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:127093600-127094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:127094000-127095000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:127094000-127095400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:127094000-127096400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:127094200-127094600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:127094200-127094800	Enhancers	NHDF-Ad	bronchial
25	chr6:127094200-127095600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:127094200-127095600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:127094200-127095800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:127094200-127095800	Enhancers	Fetal Lung	lung
29	chr6:127094200-127096800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:127094400-127094800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:127094400-127094800	Enhancers	Ovary	ovary
32	chr6:127094400-127094800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:127094400-127095000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:127094400-127095000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:127094400-127095000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:127094400-127095000	Enhancers	HUVEC	blood vessel
37	chr6:127094400-127095000	Enhancers	NH-A	brain
38	chr6:127094400-127095400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:127094400-127095400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:127094400-127096200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:127094400-127096200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:127094600-127094800	Enhancers	Fetal Muscle Leg	muscle
43	chr6:127094600-127094800	Bivalent Enhancer	HSMM	muscle
44	chr6:127094600-127094800	Flanking Active TSS	HSMMtube	muscle
45	chr6:127094600-127095000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:127094600-127095000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:127094600-127095000	Bivalent Enhancer	Left Ventricle	heart
48	chr6:127094600-127095000	Enhancers	Right Atrium	heart
49	chr6:127094600-127095400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:127094800-127095000	Enhancers	HSMMtube	muscle

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