Variant report

Variant	nsv1033253
Chromosome Location	chr5:101201820-101255905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:101216484..101218050-chr5:101219554..101221470,2	MCF-7	breast:
2	chr5:101006866..101009211-chr5:101203107..101204677,2	MCF-7	breast:
3	chr5:101209236..101211408-chr5:101214038..101216724,2	K562	blood:
4	chr5:101209236..101211408-chr5:101214038..101216724,2	K562	blood:
5	chr5:101216484..101218050-chr5:101219554..101221470,2	MCF-7	breast:

Extended variants
information (count: 525 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536121843	chr5:101204425-101204426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541567789	chr5:101204469-101204470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569570756	chr5:101204472-101204473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55978553	chr5:101204488-101204489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375827763	chr5:101204502-101204503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566570414	chr5:101204506-101204507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370530114	chr5:101204529-101204530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143292761	chr5:101204535-101204536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558373317	chr5:101204651-101204652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12055139	chr5:101204655-101204656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142406381	chr5:101204689-101204690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12189305	chr5:101204702-101204703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12189496	chr5:101204703-101204704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145968426	chr5:101204719-101204720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12055350	chr5:101204746-101204747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543326951	chr5:101204761-101204762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527442691	chr5:101204773-101204774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113757134	chr5:101204775-101204776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs33962247	chr5:101204776-101204777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370392910	chr5:101204780-101204781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561530097	chr5:101204791-101204792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374150250	chr5:101204804-101204805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540572053	chr5:101204836-101204837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142394615	chr5:101204870-101204871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs752832	chr5:101204881-101204882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150912290	chr5:101204882-101204883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368514100	chr5:101204913-101204914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10079898	chr5:101204935-101204936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541782952	chr5:101204953-101204954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529806528	chr5:101204959-101204960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10036886	chr5:101204974-101204975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367688034	chr5:101204978-101204979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533563236	chr5:101205008-101205009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558516592	chr5:101205010-101205011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570500335	chr5:101205011-101205012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569136698	chr5:101205022-101205023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139395609	chr5:101205028-101205029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551514227	chr5:101205039-101205040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557621945	chr5:101205075-101205076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116936312	chr5:101205109-101205110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114789938	chr5:101205133-101205134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184791814	chr5:101205161-101205162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573440744	chr5:101205170-101205171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540306816	chr5:101205179-101205180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565277112	chr5:101205189-101205190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532536313	chr5:101205192-101205193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537836267	chr5:101213649-101213650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556268995	chr5:101213694-101213695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373903708	chr5:101213723-101213724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184795131	chr5:101213785-101213786	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101204400-101205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:101204800-101205000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:101205000-101205200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:101213600-101214800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:101221400-101221800	Enhancers	Aorta	Aorta
6	chr5:101229000-101229400	Enhancers	Colon Smooth Muscle	Colon
7	chr5:101229400-101230000	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:101230000-101230200	Enhancers	Colon Smooth Muscle	Colon
9	chr5:101233400-101233600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:101233400-101233800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:101233400-101234000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:101233400-101234000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:101233600-101233800	Enhancers	Gastric	stomach
14	chr5:101233600-101234000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:101233600-101234000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:101233600-101234000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:101233600-101234000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:101233600-101234000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:101233600-101234000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:101233600-101234000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:101233600-101234000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:101233600-101234000	Enhancers	Rectal Smooth Muscle	rectum
23	chr5:101233600-101234000	Active TSS	A549	lung
24	chr5:101234000-101238200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:101234000-101238800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:101237600-101241400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:101238200-101239400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:101238200-101239400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:101238200-101240600	Enhancers	Brain Germinal Matrix	brain
30	chr5:101238800-101239400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:101239200-101242000	Weak transcription	Aorta	Aorta
32	chr5:101239400-101240400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:101239400-101240400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:101239400-101240600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:101240200-101240600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:101240400-101240800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:101240400-101240800	Enhancers	Adipose Nuclei	Adipose
38	chr5:101240400-101241000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:101240400-101241400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:101240600-101241000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:101250600-101250800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:101250600-101251400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:101250600-101251400	Enhancers	Brain Germinal Matrix	brain
44	chr5:101250800-101251200	Enhancers	Colon Smooth Muscle	Colon
45	chr5:101251000-101251400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr5:101251000-101251800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:101251200-101251400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:101251200-101251600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr5:101251200-101251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:101251400-101251600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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