Variant report

Variant	esv2140103
Chromosome Location	chr3:196311746-196311747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196311659..196313218-chr3:196314271..196315787,2	MCF-7	breast:
2	chr3:196295473..196297972-chr3:196309898..196314847,6	MCF-7	breast:
3	chr3:196294648..196297345-chr3:196309580..196313995,4	K562	blood:
4	chr3:196308084..196310672-chr3:196311210..196312860,2	MCF-7	breast:
5	chr3:196310084..196313670-chr3:196313950..196316230,5	K562	blood:
6	chr3:196310004..196313820-chr3:196314591..196318789,6	K562	blood:

Variant related genes	Relation type
ENSG00000185798	chromatin interactions
ENSG00000174013	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 84 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11298661	chr3:196311746-196311747	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196296600-196320200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:196296800-196316800	Weak transcription	Right Ventricle	heart
3	chr3:196297000-196314400	Weak transcription	Brain Anterior Caudate	brain
4	chr3:196297000-196316000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:196297000-196316200	Weak transcription	Right Atrium	heart
6	chr3:196297000-196317000	Weak transcription	NHLF	lung
7	chr3:196297000-196317800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:196297000-196318000	Weak transcription	Colonic Mucosa	Colon
9	chr3:196297000-196320400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:196297200-196311800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:196297200-196312400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:196297200-196313200	Weak transcription	Fetal Kidney	kidney
13	chr3:196297200-196315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:196297200-196316800	Weak transcription	Brain Angular Gyrus	brain
15	chr3:196297200-196323000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:196297400-196313800	Weak transcription	Small Intestine	intestine
17	chr3:196297400-196318800	Weak transcription	Pancreas	Pancrea
18	chr3:196298000-196319400	Weak transcription	Fetal Brain Male	brain
19	chr3:196298600-196313000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:196303400-196316400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:196304000-196314200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:196304200-196312000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:196304200-196314000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr3:196304200-196314200	Strong transcription	Dnd41	blood
25	chr3:196304400-196311800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:196304400-196313600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:196304400-196313600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:196304400-196313600	Strong transcription	Fetal Thymus	thymus
29	chr3:196304400-196313600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr3:196304400-196313800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:196304400-196314000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:196304400-196314000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:196304400-196314000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:196304400-196314000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr3:196304400-196314600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr3:196304400-196314800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:196305000-196312000	Strong transcription	Fetal Lung	lung
38	chr3:196305600-196320000	Weak transcription	NHDF-Ad	bronchial
39	chr3:196306200-196314200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr3:196306400-196312200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:196306400-196317800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr3:196306600-196325000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:196306800-196312400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:196308000-196316000	Weak transcription	Spleen	Spleen
45	chr3:196308000-196316800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:196308000-196317400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:196308000-196320000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:196308200-196313600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:196308400-196312000	Strong transcription	K562	blood
50	chr3:196308400-196312600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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