Variant report

Variant	nsv1030316
Chromosome Location	chr6:100733205-100759678
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:100657415..100659145-chr6:100737234..100738905,2	MCF-7	breast:
2	chr6:100570620..100572357-chr6:100745682..100747193,2	MCF-7	breast:
3	chr2:164282609..164283409-chr6:100737706..100738216,2	MCF-7	breast:
4	chr6:100737311..100740574-chr6:100740600..100744318,3	K562	blood:
5	chr1:118148388..118148908-chr6:100747743..100748445,2	HCT-116	colon:
6	chr6:100572712..100574513-chr6:100758890..100760951,2	K562	blood:
7	chr6:100726523..100729993-chr6:100731372..100735998,4	K562	blood:
8	chr6:100742755..100744691-chr6:100749750..100751577,2	MCF-7	breast:
9	chr6:100737311..100740574-chr6:100740600..100744318,3	K562	blood:
10	chr6:100727871..100730715-chr6:100731405..100734347,3	K562	blood:
11	chr6:100742755..100744691-chr6:100749750..100751577,2	MCF-7	breast:
12	chr6:100725018..100726889-chr6:100738423..100740052,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183508	chromatin interactions
ENSG00000236866	chromatin interactions

Extended variants
information (count: 959 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:959 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55692601	chr6:100733224-100733225	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557446894	chr6:100733261-100733262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535269874	chr6:100733341-100733342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186388246	chr6:100733415-100733416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117842843	chr6:100733442-100733443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79507378	chr6:100733445-100733446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141586146	chr6:100733460-100733461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs67868935	chr6:100733504-100733505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150815336	chr6:100733549-100733550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562364199	chr6:100733602-100733603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139552034	chr6:100733620-100733621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553752050	chr6:100733751-100733752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573465170	chr6:100733762-100733763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191236661	chr6:100733778-100733779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558542885	chr6:100733781-100733782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559848986	chr6:100733784-100733785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533380277	chr6:100733828-100733829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551815765	chr6:100733839-100733840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181379982	chr6:100733856-100733857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563663737	chr6:100733886-100733887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530794966	chr6:100733971-100733972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549015570	chr6:100733972-100733973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575080078	chr6:100733994-100733995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567340360	chr6:100734139-100734140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185220308	chr6:100734187-100734188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543911103	chr6:100734205-100734206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547378118	chr6:100734229-100734230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565839630	chr6:100734234-100734235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144268316	chr6:100734275-100734276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557819435	chr6:100734278-100734279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534350259	chr6:100734294-100734295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576249677	chr6:100734316-100734317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560640409	chr6:100734325-100734326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59163052	chr6:100734349-100734350	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190017147	chr6:100734418-100734419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73760831	chr6:100734429-100734430	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541715224	chr6:100734460-100734461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559809924	chr6:100734568-100734569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183255779	chr6:100734583-100734584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540015205	chr6:100734594-100734595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187918445	chr6:100734632-100734633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563802297	chr6:100734634-100734635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146106125	chr6:100734637-100734638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368537077	chr6:100734731-100734732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117677781	chr6:100734802-100734803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560902002	chr6:100734859-100734860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528490212	chr6:100734867-100734868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547636331	chr6:100734894-100734895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9399482	chr6:100734930-100734931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs571619683	chr6:100735050-100735051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	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
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100729800-100733600	Weak transcription	Adipose Nuclei	Adipose
2	chr6:100730400-100741600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:100731000-100734600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:100731600-100744200	Weak transcription	NHDF-Ad	bronchial
5	chr6:100731800-100733800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:100732000-100736000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:100732000-100736600	Weak transcription	HUVEC	blood vessel
8	chr6:100732000-100744200	Weak transcription	NHLF	lung
9	chr6:100732400-100736000	Weak transcription	A549	lung
10	chr6:100732600-100734400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:100732800-100733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:100733000-100736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:100733600-100734200	Enhancers	Adipose Nuclei	Adipose
14	chr6:100733800-100734200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:100736000-100736200	Enhancers	A549	lung
16	chr6:100736000-100737000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:100736000-100737000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:100736200-100736800	Weak transcription	A549	lung
19	chr6:100736600-100737400	Enhancers	HUVEC	blood vessel
20	chr6:100736800-100737600	Enhancers	A549	lung
21	chr6:100737000-100737400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:100737400-100737600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:100737400-100737600	Flanking Active TSS	HUVEC	blood vessel
24	chr6:100737600-100738000	Enhancers	HUVEC	blood vessel
25	chr6:100737600-100741200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:100737600-100741400	Weak transcription	A549	lung
27	chr6:100738000-100741600	Weak transcription	HUVEC	blood vessel
28	chr6:100739200-100739400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:100739400-100741400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:100739400-100749600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:100739600-100739800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:100739800-100740800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:100739800-100744200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:100740200-100740800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:100740800-100741000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:100740800-100741000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:100740800-100742600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:100741000-100741200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr6:100741000-100742000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:100741000-100749600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:100741200-100742600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:100741200-100744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr6:100741400-100742800	Enhancers	A549	lung
44	chr6:100741400-100744600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:100741600-100742800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:100741600-100743000	Enhancers	HUVEC	blood vessel
47	chr6:100741600-100744200	Enhancers	Hela-S3	cervix
48	chr6:100741800-100742200	Enhancers	Osteobl	bone
49	chr6:100741800-100742600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:100741800-100742800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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