Variant report

Variant	esv3420535
Chromosome Location	chr8:51223299-51227997
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	chr8:51219065..51222213-chr8:51225649..51228332,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191908882	chr8:51223309-51223310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184395251	chr8:51223315-51223316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12681918	chr8:51223317-51223318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190531903	chr8:51223344-51223345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182018458	chr8:51223416-51223417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78718497	chr8:51223444-51223445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559599111	chr8:51223473-51223474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145234377	chr8:51223483-51223484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551900818	chr8:51223490-51223491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538854727	chr8:51223491-51223492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563912977	chr8:51223494-51223495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs207469147	chr8:51223499-51223500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531110038	chr8:51223502-51223503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549726970	chr8:51223510-51223511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369937568	chr8:51223524-51223525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552392481	chr8:51223633-51223634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569104384	chr8:51223650-51223651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368994619	chr8:51223702-51223703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569312262	chr8:51223728-51223729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528091544	chr8:51223749-51223750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546536780	chr8:51223772-51223773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187628728	chr8:51223785-51223786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571259736	chr8:51223861-51223862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538395957	chr8:51223868-51223869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189135051	chr8:51223878-51223879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572548542	chr8:51223886-51223887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568749372	chr8:51223895-51223896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538437587	chr8:51223896-51223897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539848967	chr8:51223910-51223911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559955085	chr8:51223955-51223956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554580129	chr8:51224012-51224013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574792054	chr8:51224041-51224042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573050712	chr8:51224049-51224050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541068546	chr8:51224070-51224071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376905438	chr8:51224077-51224078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577948021	chr8:51224078-51224079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530342681	chr8:51224087-51224088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563750019	chr8:51224114-51224115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1868639	chr8:51224209-51224210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543210128	chr8:51224226-51224227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554243799	chr8:51224295-51224296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149200078	chr8:51224309-51224310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1470680	chr8:51224361-51224362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35823892	chr8:51224371-51224372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546977770	chr8:51224399-51224400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143797133	chr8:51224429-51224430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368454893	chr8:51224445-51224446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550280431	chr8:51224487-51224488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568575825	chr8:51224530-51224531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536044827	chr8:51224551-51224552	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51221000-51223400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:51221000-51223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:51221200-51223400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:51223400-51224200	Enhancers	Brain Germinal Matrix	brain
5	chr8:51223400-51224800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:51223400-51225000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:51223600-51224400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:51223800-51224600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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