Variant report

Variant	esv1131671
Chromosome Location	chr3:195826434-195826644
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	chr3:195819662..195821659-chr3:195825682..195827828,2	K562	blood:
2	chr3:195824301..195827201-chr3:195827845..195831262,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564220603	chr3:195826434-195826435	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs56224756	chr3:195826439-195826440	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71321883	chr3:195826449-195826450	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71321885	chr3:195826474-195826475	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71321886	chr3:195826488-195826489	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71321887	chr3:195826509-195826510	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71321888	chr3:195826515-195826516	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377152759	chr3:195826519-195826520	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71321892	chr3:195826528-195826529	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74205539	chr3:195826529-195826530	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71630181	chr3:195826547-195826548	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547542735	chr3:195826557-195826558	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71321879	chr3:195826571-195826572	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71321889	chr3:195826572-195826573	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71321880	chr3:195826577-195826578	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71321881	chr3:195826589-195826590	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71321882	chr3:195826594-195826595	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562138825	chr3:195826609-195826610	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529583288	chr3:195826614-195826615	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200474744	chr3:195826617-195826618	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111828524	chr3:195826631-195826632	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71321884	chr3:195826635-195826636	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195821600-195835000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:195822400-195828000	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:195823400-195826800	Enhancers	Duodenum Mucosa	Duodenum
4	chr3:195823800-195827400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:195825600-195827400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:195825600-195827800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:195825800-195827800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:195826000-195826600	Enhancers	Esophagus	oesophagus
9	chr3:195826000-195828200	Enhancers	Primary B cells from cord blood	blood
10	chr3:195826200-195827000	ZNF genes & repeats	Lung	lung
11	chr3:195826200-195827200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:195826200-195827400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr3:195826400-195826600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:195826400-195826600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr3:195826400-195826800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr3:195826400-195827000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:195826400-195827200	Enhancers	GM12878-XiMat	blood
18	chr3:195826400-195827400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:195826400-195827400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr3:195826400-195827800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:195826600-195827200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:195826600-195828000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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