Variant report

Variant	esv1830629
Chromosome Location	chr8:35218820-35256073
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	chr8:35236339..35238040-chr8:35238233..35240737,2	K562	blood:
2	chr8:35236339..35238040-chr8:35238233..35240737,2	K562	blood:

Extended variants
information (count: 1295 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1295 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184373949	chr8:35218832-35218833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577538626	chr8:35218888-35218889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372963567	chr8:35218916-35218917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190445682	chr8:35218926-35218927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549603625	chr8:35218993-35218994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567883074	chr8:35219002-35219003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559679386	chr8:35219080-35219081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143961401	chr8:35219085-35219086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182208951	chr8:35219125-35219126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10113220	chr8:35219127-35219128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144893623	chr8:35219262-35219263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549685857	chr8:35219280-35219281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571234815	chr8:35219326-35219327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185140238	chr8:35219331-35219332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547611386	chr8:35219361-35219362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78035127	chr8:35219438-35219439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577642950	chr8:35219440-35219441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536351667	chr8:35219453-35219454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554328781	chr8:35219468-35219469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561432839	chr8:35219472-35219473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528317829	chr8:35219476-35219477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570526681	chr8:35219506-35219507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28428555	chr8:35219507-35219508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558569763	chr8:35219660-35219661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577650031	chr8:35219707-35219708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541356238	chr8:35219762-35219763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34176623	chr8:35219811-35219812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575354872	chr8:35219812-35219813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149044577	chr8:35219814-35219815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542322920	chr8:35219819-35219820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563413584	chr8:35219830-35219831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143072948	chr8:35219872-35219873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545828151	chr8:35219874-35219875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564131008	chr8:35219900-35219901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532485460	chr8:35219905-35219906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17342026	chr8:35220008-35220009	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190118928	chr8:35220037-35220038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7007689	chr8:35220076-35220077	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373412649	chr8:35220077-35220078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529817994	chr8:35220134-35220135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548290309	chr8:35220159-35220160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569798510	chr8:35220203-35220204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537132273	chr8:35220259-35220260	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10954986	chr8:35220307-35220308	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181117951	chr8:35220348-35220349	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535333433	chr8:35220360-35220361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76610691	chr8:35220368-35220369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147809799	chr8:35220390-35220391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151177588	chr8:35220490-35220491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542085696	chr8:35220499-35220500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35208800-35220600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:35209200-35219800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:35211200-35231000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:35212400-35222600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:35212800-35225200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:35213200-35220800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:35219800-35220000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr8:35219800-35221200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr8:35220000-35220800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:35220400-35221000	Weak transcription	Fetal Brain Male	brain
11	chr8:35220600-35220800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr8:35220800-35221000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr8:35220800-35221200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr8:35220800-35225000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:35221000-35221200	ZNF genes & repeats	Fetal Brain Male	brain
16	chr8:35221000-35230800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:35221200-35225600	Weak transcription	Fetal Brain Male	brain
18	chr8:35221200-35231000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:35221200-35231000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:35222600-35222800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:35222800-35230800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:35223600-35224200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:35224200-35224600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:35224600-35224800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr8:35224600-35225600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr8:35224800-35233600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:35225000-35225400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:35225000-35225400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:35225000-35225600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:35225200-35225400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:35225200-35225600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:35225400-35230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:35225600-35226000	Enhancers	Fetal Brain Male	brain
34	chr8:35225600-35230600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:35225600-35230800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:35226400-35230600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:35227400-35229000	Enhancers	Fetal Brain Female	brain
38	chr8:35229000-35242000	Weak transcription	Fetal Brain Female	brain
39	chr8:35229600-35229800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:35230200-35232800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:35230600-35230800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr8:35230600-35232200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:35230600-35232600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:35230600-35234400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:35230800-35231800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:35230800-35232200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:35230800-35234000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:35230800-35234400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:35230800-35234400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr8:35231000-35232400	Enhancers	Cortex derived primary cultured neurospheres	brain

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