Variant report

Variant	esv1794649
Chromosome Location	chr8:89321877-89327934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 224 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:224 , 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	rs553022675	chr8:89321884-89321885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35157868	chr8:89321919-89321920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376369680	chr8:89321947-89321948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566715544	chr8:89321954-89321955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533553550	chr8:89321986-89321987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182080931	chr8:89322004-89322005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74883833	chr8:89322074-89322075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185755859	chr8:89322178-89322179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376963919	chr8:89322202-89322203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191053456	chr8:89322205-89322206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147975014	chr8:89322217-89322218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573667124	chr8:89322253-89322254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527751102	chr8:89322273-89322274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549081126	chr8:89322295-89322296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567455709	chr8:89322384-89322385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535250889	chr8:89322414-89322415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16880935	chr8:89322419-89322420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569048647	chr8:89322460-89322461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570112767	chr8:89322524-89322525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181142753	chr8:89322567-89322568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555819806	chr8:89322613-89322614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572899684	chr8:89322663-89322664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540299230	chr8:89322732-89322733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555477711	chr8:89322744-89322745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186645172	chr8:89322761-89322762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544467851	chr8:89322775-89322776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572960899	chr8:89322786-89322787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372024485	chr8:89322843-89322844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3851539	chr8:89322905-89322906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs76684494	chr8:89322926-89322927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545704250	chr8:89322976-89322977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190248187	chr8:89322990-89322991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3844198	chr8:89323004-89323005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527662827	chr8:89323005-89323006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28986468	chr8:89323010-89323011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541959918	chr8:89323089-89323090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564635374	chr8:89323098-89323099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573436637	chr8:89323106-89323107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28907901	chr8:89323109-89323110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs28907900	chr8:89323115-89323116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28907899	chr8:89323173-89323174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28907898	chr8:89323204-89323205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569037974	chr8:89323216-89323217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539328240	chr8:89323232-89323233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182862089	chr8:89323356-89323357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561959840	chr8:89323377-89323378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187538121	chr8:89323378-89323379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28907897	chr8:89323398-89323399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28907896	chr8:89323400-89323401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs370017140	chr8:89323423-89323424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89302000-89326000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:89315600-89324000	Weak transcription	Fetal Heart	heart
3	chr8:89315800-89326000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:89315800-89331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:89318600-89326000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:89319400-89325200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:89320600-89331800	Weak transcription	Left Ventricle	heart
8	chr8:89320800-89327000	Weak transcription	Aorta	Aorta
9	chr8:89320800-89337600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:89321800-89333400	Weak transcription	Fetal Brain Male	brain
11	chr8:89322800-89323000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:89323000-89325800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:89324000-89324800	Enhancers	Fetal Heart	heart
14	chr8:89324400-89336200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:89325200-89325600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:89325600-89327400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:89325600-89327600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr8:89325800-89327000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr8:89326000-89327000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:89326000-89327200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr8:89326000-89327400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr8:89326200-89327600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr8:89326400-89326800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:89326600-89327600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:89326600-89331200	Weak transcription	NH-A	brain
26	chr8:89326600-89338200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:89326800-89327000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr8:89326800-89327200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:89326800-89327400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr8:89326800-89327400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr8:89326800-89327400	Enhancers	Adipose Nuclei	Adipose
32	chr8:89326800-89327400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:89327000-89327400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:89327000-89327400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:89327000-89327400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:89327000-89327400	Enhancers	Aorta	Aorta
37	chr8:89327000-89327400	Enhancers	Rectal Smooth Muscle	rectum
38	chr8:89327000-89330600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:89327000-89332200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:89327200-89327400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr8:89327200-89331800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:89327200-89336200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:89327400-89331000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:89327400-89331000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:89327400-89331200	Weak transcription	Aorta	Aorta
46	chr8:89327400-89331800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:89327400-89332000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:89327400-89332800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:89327400-89332800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:89327400-89336000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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