Variant report

Variant	esv2155212
Chromosome Location	chr3:137805110-137805111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 55 )

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	rs202084004	chr3:137805110-137805111	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137780000-137813400	Weak transcription	HUVEC	blood vessel
2	chr3:137780600-137811600	Weak transcription	Psoas Muscle	Psoas
3	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:137783200-137811600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:137783200-137821200	Weak transcription	Colonic Mucosa	Colon
6	chr3:137785400-137805600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:137787600-137806600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:137787800-137805200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:137792000-137820600	Weak transcription	Esophagus	oesophagus
10	chr3:137792200-137805200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:137792400-137818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:137796200-137811400	Weak transcription	Fetal Brain Male	brain
13	chr3:137796800-137805200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:137801400-137805400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:137801600-137820600	Weak transcription	Spleen	Spleen
16	chr3:137801600-137833200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:137801800-137805200	Weak transcription	Brain Anterior Caudate	brain
18	chr3:137801800-137807800	Weak transcription	NHEK	skin
19	chr3:137801800-137812600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:137801800-137815200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:137802200-137818200	Weak transcription	Hela-S3	cervix
22	chr3:137802400-137805200	Weak transcription	A549	lung
23	chr3:137802400-137805200	Weak transcription	HMEC	breast
24	chr3:137802400-137813200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:137802400-137823200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:137802600-137808800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr3:137802600-137822200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr3:137803000-137805200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:137803000-137805400	Weak transcription	Fetal Heart	heart
30	chr3:137803200-137805200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:137803200-137805200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:137803200-137805200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:137803200-137805200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:137803200-137805200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:137803200-137805200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:137803200-137805200	Weak transcription	Adipose Nuclei	Adipose
37	chr3:137803200-137805200	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:137803200-137805200	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:137803200-137805200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:137803200-137805200	Weak transcription	Fetal Intestine Large	intestine
41	chr3:137803200-137805200	Weak transcription	Fetal Intestine Small	intestine
42	chr3:137803200-137805200	Weak transcription	Gastric	stomach
43	chr3:137803200-137805200	Weak transcription	Lung	lung
44	chr3:137803200-137805200	Weak transcription	Ovary	ovary
45	chr3:137803200-137805200	Weak transcription	Pancreas	Pancrea
46	chr3:137803200-137805200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:137803200-137812200	Weak transcription	Brain Angular Gyrus	brain
48	chr3:137803200-137812800	Weak transcription	Fetal Brain Female	brain
49	chr3:137803200-137815600	Weak transcription	Brain Substantia Nigra	brain
50	chr3:137803200-137833200	Weak transcription	Placenta	Placenta

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