Variant report

Variant	esv3416440
Chromosome Location	chr3:113187295-113187548
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	chr3:113184124..113185846-chr3:113185911..113187476,2	MCF-7	breast:
2	chr3:113184639..113186627-chr3:113186960..113188718,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369429706	chr3:113187331-113187332	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs111641059	chr3:113187354-113187355	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs75307460	chr3:113187404-113187405	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs544622478	chr3:113187427-113187428	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562920582	chr3:113187433-113187434	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113146000-113191000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr3:113160200-113190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:113160400-113188800	Weak transcription	Colonic Mucosa	Colon
4	chr3:113160400-113191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:113160400-113192800	Weak transcription	Stomach Mucosa	stomach
6	chr3:113160600-113188600	Weak transcription	Psoas Muscle	Psoas
7	chr3:113160600-113190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:113160600-113203800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:113160800-113187600	Weak transcription	NHLF	lung
10	chr3:113160800-113189400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:113160800-113189400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:113160800-113189600	Weak transcription	NHEK	skin
13	chr3:113160800-113203800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:113160800-113203800	Weak transcription	Aorta	Aorta
15	chr3:113160800-113224800	Weak transcription	Placenta	Placenta
16	chr3:113160800-113232600	Weak transcription	Right Ventricle	heart
17	chr3:113161000-113189600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:113161000-113189600	Weak transcription	Brain Substantia Nigra	brain
19	chr3:113161000-113190800	Weak transcription	K562	blood
20	chr3:113161400-113192200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:113166200-113188800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:113166600-113203800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:113169800-113191600	Weak transcription	Fetal Brain Male	brain
24	chr3:113172600-113203800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:113172800-113232800	Weak transcription	HSMMtube	muscle
26	chr3:113173800-113190200	Weak transcription	Fetal Heart	heart
27	chr3:113174600-113190200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:113175000-113190600	Weak transcription	Brain Germinal Matrix	brain
29	chr3:113176400-113233200	Weak transcription	Gastric	stomach
30	chr3:113177400-113225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:113177600-113224400	Weak transcription	Spleen	Spleen
32	chr3:113179400-113187400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:113179600-113188200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:113179600-113189600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:113179600-113191200	Weak transcription	Brain Angular Gyrus	brain
36	chr3:113179600-113192200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:113179600-113192600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:113179600-113204000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr3:113179600-113215200	Weak transcription	HMEC	breast
40	chr3:113179600-113217200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:113179600-113232400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:113179600-113232800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:113180800-113189800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:113181000-113187800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:113181000-113189000	Strong transcription	Fetal Intestine Large	intestine
46	chr3:113182000-113188800	Weak transcription	Brain Anterior Caudate	brain
47	chr3:113182000-113191400	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:113182000-113203800	Weak transcription	Esophagus	oesophagus
49	chr3:113182000-113203800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:113183400-113189000	Strong transcription	Rectal Mucosa Donor 31	rectum

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