Variant report

Variant	esv3349359
Chromosome Location	chr5:97119245-97161412
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	chr5:97113626..97116438-chr5:97121561..97123647,2	K562	blood:
2	chr5:97160876..97163358-chr5:97164775..97167035,2	K562	blood:

Extended variants
information (count: 415 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548238297	chr5:97126813-97126814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531842677	chr5:97126835-97126836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73143462	chr5:97126928-97126929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs58647584	chr5:97127014-97127015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375123181	chr5:97127039-97127040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551955366	chr5:97127071-97127072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528637909	chr5:97127074-97127075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57825700	chr5:97127107-97127108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145424118	chr5:97127129-97127130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550232151	chr5:97127155-97127156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568360911	chr5:97127194-97127195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148803552	chr5:97127195-97127196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11957599	chr5:97127230-97127231	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572780956	chr5:97127274-97127275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs550915768	chr5:97127332-97127333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540111908	chr5:97127333-97127334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558400632	chr5:97127363-97127364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560954638	chr5:97131826-97131827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138751063	chr5:97131858-97131859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546621538	chr5:97131894-97131895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571233520	chr5:97131996-97131997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538651357	chr5:97132001-97132002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532320763	chr5:97132015-97132016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145480548	chr5:97132072-97132073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6861758	chr5:97132086-97132087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534451642	chr5:97132108-97132109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6866143	chr5:97132121-97132122	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566628666	chr5:97132131-97132132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534003938	chr5:97132161-97132162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558546411	chr5:97132212-97132213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6884205	chr5:97132216-97132217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs191749167	chr5:97132253-97132254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556809707	chr5:97132265-97132266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183811412	chr5:97132277-97132278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567116243	chr5:97132289-97132290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116502460	chr5:97132371-97132372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560621446	chr5:97132397-97132398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572996290	chr5:97132398-97132399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540296867	chr5:97132440-97132441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80326725	chr5:97132559-97132560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376506272	chr5:97132666-97132667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73143486	chr5:97132688-97132689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562811850	chr5:97132709-97132710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11949234	chr5:97132710-97132711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548005549	chr5:97132762-97132763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538225301	chr5:97132781-97132782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545006425	chr5:97132799-97132800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558449309	chr5:97132813-97132814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534064380	chr5:97132824-97132825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188532844	chr5:97132861-97132862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97126800-97127200	Weak transcription	Gastric	stomach
2	chr5:97127200-97127400	ZNF genes & repeats	Gastric	stomach
3	chr5:97131800-97132000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:97131800-97132200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:97132000-97132800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:97132200-97133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:97132800-97134400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:97133400-97136400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:97133600-97134200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:97133600-97134400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:97133800-97134400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:97134400-97135400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:97135400-97137600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:97136400-97136800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:97136800-97137400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:97139000-97139400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:97143400-97144000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:97143600-97144000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:97144400-97145200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:97153200-97154800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:97157400-97157800	Active TSS	Fetal Muscle Trunk	muscle

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