Variant report

Variant	esv1797592
Chromosome Location	chr5:98492945-98524234
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	chr5:98469162..98471809-chr5:98495145..98496723,2	K562	blood:
2	chr5:98440206..98440855-chr5:98503610..98504175,2	MCF-7	breast:

Extended variants
information (count: 379 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560715959	chr5:98502416-98502417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115178595	chr5:98502440-98502441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184232535	chr5:98502451-98502452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77079241	chr5:98502471-98502472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375851351	chr5:98502472-98502473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369711545	chr5:98502474-98502475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372270390	chr5:98502475-98502476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148092723	chr5:98502530-98502531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73776705	chr5:98502561-98502562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189329811	chr5:98502581-98502582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3074682	chr5:98502586-98502587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368401726	chr5:98502587-98502588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397838590	chr5:98502590-98502591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571576873	chr5:98502597-98502598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200555055	chr5:98502702-98502703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569597783	chr5:98502718-98502719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150643754	chr5:98502728-98502729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139254756	chr5:98502817-98502818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567026042	chr5:98502818-98502819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534045840	chr5:98502839-98502840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144094859	chr5:98502885-98502886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570855737	chr5:98503015-98503016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193246145	chr5:98503060-98503061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556123685	chr5:98503086-98503087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575185006	chr5:98503132-98503133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542485599	chr5:98503136-98503137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35178575	chr5:98503206-98503207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554345725	chr5:98503223-98503224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79541045	chr5:98503233-98503234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540044121	chr5:98503234-98503235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541436479	chr5:98503285-98503286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146011351	chr5:98503289-98503290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532085873	chr5:98503319-98503320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36044150	chr5:98503322-98503323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544256032	chr5:98503373-98503374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562431137	chr5:98503390-98503391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530423047	chr5:98503392-98503393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548862520	chr5:98503399-98503400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10071543	chr5:98503405-98503406	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184545483	chr5:98503416-98503417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189379443	chr5:98503425-98503426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117544812	chr5:98503426-98503427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116077676	chr5:98503432-98503433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112930932	chr5:98503470-98503471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372413085	chr5:98503471-98503472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181424429	chr5:98503577-98503578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545085308	chr5:98503582-98503583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536150344	chr5:98503611-98503612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76870320	chr5:98503620-98503621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573050987	chr5:98503634-98503635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98502400-98503200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr5:98502600-98502800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:98502600-98506600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:98502800-98503200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:98502800-98504000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:98503200-98503600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:98503200-98504400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:98503600-98504200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:98503800-98505800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:98504000-98505600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:98504200-98505200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:98504400-98505200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:98504600-98505400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:98504800-98505000	Enhancers	Brain Anterior Caudate	brain
15	chr5:98504800-98505600	Enhancers	HUVEC	blood vessel
16	chr5:98504800-98506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:98505200-98505400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:98505200-98505600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr5:98506000-98506400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:98506400-98506800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:98506600-98507400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:98507400-98507600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:98510400-98513600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:98511800-98512200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:98512000-98515600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:98513600-98513800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:98513800-98514800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:98514800-98515400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:98514800-98515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:98523400-98524000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:98523400-98524000	Enhancers	HUVEC	blood vessel
32	chr5:98524000-98526800	Weak transcription	HUVEC	blood vessel

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