Variant report

Variant	nsv980992
Chromosome Location	chr5:105420542-105428944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:105428632..105431100-chr5:105575267..105577063,2	MCF-7	breast:

Extended variants
information (count: 251 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544561470	chr5:105420550-105420551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528954152	chr5:105420588-105420589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140542598	chr5:105420645-105420646	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150446084	chr5:105420655-105420656	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190870777	chr5:105420708-105420709	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7701557	chr5:105420713-105420714	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs202054738	chr5:105420726-105420727	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547114020	chr5:105420748-105420749	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566925782	chr5:105420756-105420757	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539045483	chr5:105420769-105420770	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181106416	chr5:105420779-105420780	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571478946	chr5:105420781-105420782	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111808730	chr5:105420785-105420786	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185510644	chr5:105420796-105420797	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556916735	chr5:105420844-105420845	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs190463827	chr5:105420852-105420853	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs183047048	chr5:105420910-105420911	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs150854033	chr5:105420913-105420914	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77173207	chr5:105420917-105420918	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536011392	chr5:105420972-105420973	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs72783264	chr5:105420991-105420992	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112525653	chr5:105421010-105421011	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544622949	chr5:105421050-105421051	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138282599	chr5:105421081-105421082	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575885639	chr5:105421082-105421083	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187658337	chr5:105421204-105421205	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs745878	chr5:105421213-105421214	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530321206	chr5:105421214-105421215	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547175364	chr5:105421246-105421247	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551653726	chr5:105421345-105421346	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532624281	chr5:105421382-105421383	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149151920	chr5:105421385-105421386	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs748895	chr5:105421452-105421453	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35865658	chr5:105421476-105421477	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116489633	chr5:105421492-105421493	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534179634	chr5:105421514-105421515	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192441529	chr5:105421527-105421528	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550854322	chr5:105421532-105421533	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567406964	chr5:105421549-105421550	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369876100	chr5:105421560-105421561	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146566554	chr5:105421583-105421584	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552718721	chr5:105421590-105421591	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566255862	chr5:105421616-105421617	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556179750	chr5:105421618-105421619	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183943380	chr5:105421626-105421627	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558312373	chr5:105421627-105421628	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549134792	chr5:105421716-105421717	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575175611	chr5:105421717-105421718	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543816347	chr5:105421730-105421731	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373727268	chr5:105421745-105421746	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105416800-105421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:105417800-105420800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:105419200-105421000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:105419400-105420600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:105419400-105420600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:105419400-105421600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:105419600-105420600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:105419600-105420600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:105419600-105422000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr5:105419600-105423000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:105419800-105421200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:105420000-105421000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:105420000-105424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:105420600-105420800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:105420600-105421400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:105420600-105422200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:105420600-105422200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:105420600-105422800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:105420800-105421200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:105420800-105422200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:105421000-105421200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:105421000-105421400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr5:105421000-105422400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:105421000-105423200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:105421200-105422200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr5:105421200-105422200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:105421200-105423000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:105421400-105422000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:105421400-105422000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:105421400-105422200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:105421600-105422200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr5:105422000-105422400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr5:105422000-105422400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr5:105422000-105422400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:105422000-105425400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:105422200-105423000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:105422200-105423000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:105422200-105423000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:105422200-105423200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:105422200-105424600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:105422400-105423000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr5:105422400-105424000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:105422400-105424000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:105423000-105425400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:105423000-105425400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:105423000-105425600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:105423200-105425400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:105424000-105424400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:105424000-105425600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:105424400-105424600	Enhancers	HUES48 Cell Line	embryonic stem cell

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