Variant report

Variant	nsv599090
Chromosome Location	chr5:98340383-98346514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:
2	chr5:98336536..98338225-chr5:98341064..98343650,2	K562	blood:
3	chr5:98334839..98337187-chr5:98340371..98342752,2	K562	blood:
4	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:

Extended variants
information (count: 208 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4703049	chr5:98340383-98340384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574963128	chr5:98340384-98340385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542385078	chr5:98340394-98340395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560580090	chr5:98340401-98340402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527640854	chr5:98340426-98340427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546243718	chr5:98340454-98340455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565152388	chr5:98340480-98340481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371702940	chr5:98340488-98340489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532338771	chr5:98340529-98340530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141571681	chr5:98340542-98340543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144564662	chr5:98340636-98340637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77541809	chr5:98340666-98340667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549666427	chr5:98340706-98340707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566301167	chr5:98340716-98340717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185024939	chr5:98340728-98340729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547840537	chr5:98340797-98340798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535211210	chr5:98340852-98340853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55918054	chr5:98340872-98340873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150163177	chr5:98340880-98340881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143079707	chr5:98340903-98340904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13185489	chr5:98341053-98341054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs551899266	chr5:98341069-98341070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75498355	chr5:98341070-98341071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73157487	chr5:98341071-98341072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556709671	chr5:98341073-98341074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76769469	chr5:98341105-98341106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536062006	chr5:98341232-98341233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554283143	chr5:98341355-98341356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115432699	chr5:98341387-98341388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189487755	chr5:98341413-98341414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56037221	chr5:98341458-98341459	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76384185	chr5:98341519-98341520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60347076	chr5:98341520-98341521	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141160413	chr5:98341532-98341533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541663362	chr5:98341603-98341604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116314347	chr5:98341620-98341621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146951005	chr5:98341635-98341636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557331433	chr5:98341648-98341649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548003441	chr5:98341679-98341680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559778718	chr5:98341710-98341711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181143448	chr5:98341715-98341716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78887244	chr5:98341723-98341724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536569149	chr5:98341753-98341754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77070503	chr5:98341766-98341767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144957493	chr5:98341770-98341771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185899449	chr5:98341771-98341772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190312581	chr5:98341812-98341813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72775647	chr5:98341819-98341820	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572735715	chr5:98341821-98341822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116005722	chr5:98341873-98341874	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98337400-98340800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:98337800-98340600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:98339800-98340800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:98339800-98341000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:98339800-98343600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:98340000-98341000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:98340000-98341600	Enhancers	GM12878-XiMat	blood
8	chr5:98340000-98342000	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:98340200-98341600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:98340200-98342200	Enhancers	Primary B cells from cord blood	blood
11	chr5:98340600-98342400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:98340800-98341000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:98340800-98341200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:98340800-98341600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:98340800-98342000	Enhancers	HepG2	liver
16	chr5:98340800-98342400	Enhancers	Adipose Nuclei	Adipose
17	chr5:98340800-98343600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:98341200-98341800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:98341800-98342000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:98342000-98345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:98342400-98343400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:98343200-98343400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:98343400-98343600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:98343400-98343600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:98343600-98345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:98343600-98354800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:98345000-98345600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:98345200-98345400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:98345200-98346000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:98345200-98347000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:98345400-98345600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:98345400-98345800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:98345600-98345800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:98345600-98346000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:98345600-98346200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:98345800-98347000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:98346000-98346600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr5:98346000-98346600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr5:98346000-98346600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr5:98346200-98346800	Active TSS	iPS-18 Cell Line	embryonic stem cell

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