Variant report

Variant	esv1192346
Chromosome Location	chr3:196375637-196375639
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	chr3:196372018..196375838-chr3:196376794..196379332,3	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 85 )

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	rs371509913	chr3:196375638-196375639	Enhancers Weak transcription Genic enhancers Strong transcription	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
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196367200-196393200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:196367600-196376800	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:196367600-196386800	Weak transcription	Gastric	stomach
4	chr3:196367600-196393200	Weak transcription	Brain Substantia Nigra	brain
5	chr3:196367800-196392800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:196367800-196393000	Weak transcription	Brain Anterior Caudate	brain
7	chr3:196367800-196397000	Weak transcription	Fetal Intestine Small	intestine
8	chr3:196368000-196377800	Weak transcription	Esophagus	oesophagus
9	chr3:196368800-196377400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:196369000-196377600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:196369600-196377800	Weak transcription	Left Ventricle	heart
12	chr3:196369600-196388800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:196370000-196377200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:196370200-196381400	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:196370200-196381800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:196370200-196381800	Genic enhancers	Fetal Thymus	thymus
17	chr3:196370600-196381200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:196370800-196375800	Weak transcription	Thymus	Thymus
19	chr3:196371000-196376200	Genic enhancers	GM12878-XiMat	blood
20	chr3:196371200-196376200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr3:196371200-196377600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:196371200-196377800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:196371200-196383200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:196371400-196390000	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:196371800-196377400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:196372000-196378800	Weak transcription	Right Ventricle	heart
27	chr3:196372200-196376200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:196372400-196375800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:196372400-196378800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:196372800-196376200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:196372800-196377400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:196372800-196378000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:196373000-196375800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:196373000-196376400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:196373000-196381000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:196373000-196392000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:196373200-196376800	Genic enhancers	Monocytes-CD14+_RO01746	blood
38	chr3:196373200-196377400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:196373200-196377600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr3:196373400-196380200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:196373600-196375800	Weak transcription	Primary B cells from cord blood	blood
42	chr3:196373600-196375800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr3:196373600-196377600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:196373600-196377600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:196373600-196378200	Weak transcription	Lung	lung
46	chr3:196373600-196383200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:196373600-196392000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:196373800-196375800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:196373800-196375800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:196373800-196375800	Weak transcription	Spleen	Spleen

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