Variant report

Variant	nsv970117
Chromosome Location	chr6:44945572-44946769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201245844	chr6:44945582-44945583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527647030	chr6:44945583-44945584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558843670	chr6:44945623-44945624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552948424	chr6:44945650-44945651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9463056	chr6:44945680-44945681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9472413	chr6:44945717-44945718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs186027639	chr6:44945749-44945750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369910312	chr6:44945822-44945823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568610482	chr6:44945885-44945886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189795782	chr6:44945907-44945908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548226990	chr6:44945910-44945911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574474208	chr6:44945980-44945981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150254029	chr6:44946000-44946001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558453365	chr6:44946019-44946020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576712020	chr6:44946046-44946047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181387313	chr6:44946103-44946104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138890803	chr6:44946109-44946110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574530537	chr6:44946131-44946132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541970956	chr6:44946145-44946146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374634648	chr6:44946172-44946173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572498277	chr6:44946231-44946232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186958616	chr6:44946239-44946240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143152390	chr6:44946251-44946252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532063520	chr6:44946252-44946253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544081270	chr6:44946296-44946297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562152850	chr6:44946303-44946304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529479502	chr6:44946323-44946324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112798082	chr6:44946327-44946328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566541350	chr6:44946402-44946403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190663489	chr6:44946407-44946408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143808311	chr6:44946445-44946446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2396369	chr6:44946463-44946464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs2396370	chr6:44946472-44946473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs556246096	chr6:44946481-44946482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9472414	chr6:44946506-44946507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
36	rs182922247	chr6:44946538-44946539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2396371	chr6:44946550-44946551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs75600529	chr6:44946578-44946579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186140675	chr6:44946589-44946590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144629263	chr6:44946626-44946627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546290425	chr6:44946672-44946673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530515477	chr6:44946731-44946732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190950641	chr6:44946732-44946733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529022467	chr6:44946733-44946734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114175909	chr6:44946747-44946748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44939800-44951200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:44940800-44957000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:44941600-44947000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr6:44942200-44946400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:44942200-44947000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:44942400-44946600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:44942400-44946800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:44942800-44946800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:44943000-44947000	Weak transcription	Fetal Heart	heart
10	chr6:44943400-44946600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:44943400-44946600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr6:44943400-44946600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:44943600-44946000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr6:44943800-44946200	Enhancers	Dnd41	blood
15	chr6:44945000-44946600	Enhancers	Primary T cells from cord blood	blood
16	chr6:44945200-44946000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:44946400-44946600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:44946600-44955000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:44946600-44955000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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