Variant report

Variant	esv3439981
Chromosome Location	chr5:97208021-97210794
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	chr5:97203818..97206757-chr5:97208812..97211809,2	K562	blood:
2	chr5:97207148..97208975-chr5:97213192..97214894,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34550006	chr5:97209803-97209804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535133166	chr5:97209808-97209809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74798440	chr5:97209809-97209810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542153024	chr5:97209817-97209818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554036934	chr5:97209825-97209826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372834828	chr5:97209829-97209830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571311191	chr5:97209838-97209839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572600115	chr5:97209848-97209849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12515542	chr5:97209849-97209850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374079365	chr5:97209854-97209855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532253835	chr5:97209856-97209857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200122346	chr5:97209857-97209858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543947905	chr5:97209871-97209872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180918815	chr5:97209873-97209874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529703148	chr5:97209879-97209880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548548883	chr5:97209886-97209887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544533780	chr5:97209902-97209903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527551676	chr5:97209912-97209913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561006943	chr5:97209942-97209943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184936149	chr5:97209950-97209951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144646933	chr5:97210021-97210022	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200591015	chr5:97210024-97210025	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570527685	chr5:97210055-97210056	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367968276	chr5:97210056-97210057	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542537665	chr5:97210079-97210080	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs202238206	chr5:97210080-97210081	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs5008866	chr5:97210081-97210082	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572918936	chr5:97210095-97210096	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556352782	chr5:97210130-97210131	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568371195	chr5:97210134-97210135	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535746734	chr5:97210138-97210139	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545113234	chr5:97210165-97210166	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191446718	chr5:97210234-97210235	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182776036	chr5:97210258-97210259	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72781545	chr5:97210332-97210333	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563167239	chr5:97210370-97210371	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530061432	chr5:97210381-97210382	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544269957	chr5:97210394-97210395	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376361891	chr5:97210442-97210443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186534367	chr5:97210487-97210488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544382892	chr5:97210586-97210587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191749673	chr5:97210604-97210605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7720207	chr5:97210613-97210614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182974175	chr5:97210665-97210666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546608815	chr5:97210694-97210695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146934483	chr5:97210743-97210744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551907366	chr5:97210755-97210756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs137861552	chr5:97210758-97210759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4628016	chr5:97210779-97210780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	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
Breast cancer	21611746	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97209800-97210000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:97210000-97210400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:97210000-97210400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:97210000-97210600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:97210000-97210600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:97210000-97210800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:97210000-97210800	Enhancers	NHDF-Ad	bronchial
8	chr5:97210200-97210600	Enhancers	HSMMtube	muscle
9	chr5:97210400-97210800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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