Variant report

Variant	esv1810036
Chromosome Location	chr8:34577042-34620708
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	chr8:34606757..34608580-chr8:34608809..34610409,2	K562	blood:
2	chr8:34606757..34608580-chr8:34608809..34610409,2	K562	blood:

Extended variants
information (count: 310 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564649247	chr8:34603408-34603409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10107705	chr8:34603444-34603445	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140929119	chr8:34603459-34603460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565898464	chr8:34603478-34603479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528653226	chr8:34603491-34603492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375657915	chr8:34603518-34603519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540827162	chr8:34603521-34603522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150278443	chr8:34603535-34603536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548494905	chr8:34603704-34603705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138943105	chr8:34603714-34603715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527692461	chr8:34603721-34603722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148991882	chr8:34603722-34603723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558267419	chr8:34603734-34603735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193152392	chr8:34603737-34603738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536390462	chr8:34603761-34603762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549886005	chr8:34603774-34603775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147090356	chr8:34603792-34603793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117471818	chr8:34603799-34603800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555417006	chr8:34606876-34606877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77390082	chr8:34606907-34606908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13262347	chr8:34606934-34606935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535400165	chr8:34607024-34607025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13263701	chr8:34607039-34607040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs577680836	chr8:34607057-34607058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545149310	chr8:34607069-34607070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181152537	chr8:34607072-34607073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117340956	chr8:34607097-34607098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539550639	chr8:34607103-34607104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534028302	chr8:34607212-34607213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115130396	chr8:34607249-34607250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561277521	chr8:34607251-34607252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185739438	chr8:34607295-34607296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571638028	chr8:34607325-34607326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538627433	chr8:34607370-34607371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1522844	chr8:34607379-34607380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs115031296	chr8:34607414-34607415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533785517	chr8:34607488-34607489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189665901	chr8:34607521-34607522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372593910	chr8:34607555-34607556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142268723	chr8:34607587-34607588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542114487	chr8:34607650-34607651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181072311	chr8:34607651-34607652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145797833	chr8:34607700-34607701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577745659	chr8:34607710-34607711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78040843	chr8:34607733-34607734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560333635	chr8:34607747-34607748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117098350	chr8:34607800-34607801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16882899	chr8:34607825-34607826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561546843	chr8:34607834-34607835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541848523	chr8:34607943-34607944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34603400-34603800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:34606800-34607000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:34606800-34607200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:34607000-34607200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:34607000-34607200	Enhancers	Brain Germinal Matrix	brain
6	chr8:34607200-34609600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:34607200-34609600	Weak transcription	Brain Germinal Matrix	brain
8	chr8:34607400-34610000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:34608800-34609400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:34609000-34610000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:34609200-34610000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:34609400-34610000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:34609400-34610000	Enhancers	Fetal Brain Female	brain
14	chr8:34609400-34610200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:34609400-34611000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:34609400-34611800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:34609600-34609800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:34609600-34610000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:34609600-34610000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:34609600-34610000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:34609600-34610000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:34609600-34610200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:34609600-34610200	Enhancers	Brain Germinal Matrix	brain
24	chr8:34610000-34610200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:34610000-34611000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:34610000-34611000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:34610200-34611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:34610200-34611200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:34611000-34611200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:34611000-34614400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:34611200-34611400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:34611200-34611400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:34611200-34611400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:34611400-34613200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:34611600-34612200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:34612200-34613200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:34613200-34615400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:34613800-34614000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:34614400-34614600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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