Variant report

Variant	esv20311
Chromosome Location	chr7:78339246-78339861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs323177	chr7:78339257-78339258	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12112639	chr7:78339270-78339271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190229312	chr7:78339295-78339296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374776746	chr7:78339320-78339321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55934210	chr7:78339339-78339340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113110973	chr7:78339388-78339389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537142320	chr7:78339470-78339471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140266359	chr7:78339499-78339500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77102521	chr7:78339556-78339557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576754641	chr7:78339558-78339559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115225702	chr7:78339581-78339582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552867906	chr7:78339595-78339596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2627542	chr7:78339618-78339619	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111951238	chr7:78339624-78339625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186533	chr7:78339648-78339649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530953103	chr7:78339656-78339657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544672853	chr7:78339657-78339658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182844814	chr7:78339700-78339701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564359453	chr7:78339768-78339769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142691072	chr7:78339770-78339771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187397156	chr7:78339820-78339821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546649094	chr7:78339824-78339825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148071003	chr7:78339842-78339843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567177739	chr7:78339847-78339848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575017448	chr7:78339853-78339854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs178745	chr7:78339854-78339855	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs193215818	chr7:78339860-78339861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78327800-78341200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:78336400-78343800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:78338000-78341400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:78338600-78339800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:78338600-78339800	Enhancers	HepG2	liver
6	chr7:78338600-78340000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:78338800-78339400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:78338800-78342000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:78339000-78341400	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:78339200-78339800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:78339400-78339600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:78339600-78341400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:78339800-78340000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:78339800-78340600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:78339800-78341800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:78339800-78342600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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