Variant report

Variant	esv3463165
Chromosome Location	chr3:195115636-195115896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195114422..195115970-chr3:195117512..195119641,2	MCF-7	breast:
2	chr3:195108508..195110798-chr3:195111996..195115917,4	K562	blood:
3	chr3:195109170..195110798-chr3:195111996..195115917,3	K562	blood:
4	chr3:195115819..195117385-chr3:195118245..195120989,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73080815	chr3:195115640-195115641	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569493834	chr3:195115646-195115647	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs57869834	chr3:195115647-195115648	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs80195578	chr3:195115649-195115650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557473719	chr3:195115660-195115661	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs397959961	chr3:195115664-195115665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs62288366	chr3:195115668-195115669	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575732710	chr3:195115746-195115747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs184915423	chr3:195115764-195115765	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561709845	chr3:195115774-195115775	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573523323	chr3:195115798-195115799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs78089179	chr3:195115812-195115813	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533168852	chr3:195115831-195115832	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570542535	chr3:195115834-195115835	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs189342628	chr3:195115870-195115871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195041000-195131200	Weak transcription	Gastric	stomach
2	chr3:195052400-195118000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:195074800-195118000	Weak transcription	K562	blood
4	chr3:195077400-195118000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:195077800-195117800	Weak transcription	Brain Angular Gyrus	brain
6	chr3:195077800-195122800	Weak transcription	Right Ventricle	heart
7	chr3:195078000-195142200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:195078600-195118000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:195087800-195131200	Weak transcription	NHDF-Ad	bronchial
10	chr3:195088600-195146800	Weak transcription	Spleen	Spleen
11	chr3:195090800-195116800	Weak transcription	Aorta	Aorta
12	chr3:195091400-195116200	Weak transcription	Liver	Liver
13	chr3:195094800-195161200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:195095200-195116800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:195095200-195161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:195095800-195134200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:195100600-195117000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:195101800-195122200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:195102600-195118000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:195102600-195129800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:195103800-195117400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:195106000-195118000	Weak transcription	Small Intestine	intestine
23	chr3:195106600-195117600	Weak transcription	NHLF	lung
24	chr3:195106600-195118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:195106600-195137800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:195106800-195117800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:195106800-195117800	Weak transcription	Brain Anterior Caudate	brain
28	chr3:195107000-195116800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:195107000-195118000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:195107000-195119400	Weak transcription	HSMM	muscle
31	chr3:195107400-195126600	Weak transcription	Esophagus	oesophagus
32	chr3:195107800-195118000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:195108800-195134000	Weak transcription	Placenta	Placenta
34	chr3:195109200-195118000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:195109400-195117800	Weak transcription	Fetal Lung	lung
36	chr3:195109400-195118000	Weak transcription	Stomach Mucosa	stomach
37	chr3:195109400-195144000	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:195109800-195131200	Weak transcription	Fetal Intestine Large	intestine
39	chr3:195111400-195121200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:195111800-195128400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:195112400-195123800	Weak transcription	Left Ventricle	heart
42	chr3:195112400-195126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:195112600-195118000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:195112600-195121400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:195112600-195132400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:195112600-195138000	Weak transcription	Thymus	Thymus
47	chr3:195112600-195141400	Weak transcription	Fetal Stomach	stomach
48	chr3:195112800-195115800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:195112800-195116000	Weak transcription	Fetal Intestine Small	intestine
50	chr3:195112800-195117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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