Variant report

Variant	esv1032154
Chromosome Location	chr3:142150755-142150756
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	chr3:142145919..142149296-chr3:142150484..142152821,3	K562	blood:

Variant related genes	Relation type
ENSG00000114127	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 52 )

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	rs13061487	chr3:142150756-142150757	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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
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
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142083600-142158600	Weak transcription	NHEK	skin
2	chr3:142105000-142151800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr3:142106800-142150800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:142112200-142151600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:142112200-142152000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:142112200-142152200	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr3:142112200-142154600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:142113000-142152200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:142113400-142151800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:142113400-142151800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:142114800-142151800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:142120400-142151800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr3:142120600-142151800	Strong transcription	Dnd41	blood
14	chr3:142125000-142151800	Strong transcription	Fetal Thymus	thymus
15	chr3:142127000-142152000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:142127200-142152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:142127400-142159600	Weak transcription	Psoas Muscle	Psoas
18	chr3:142131600-142156000	Weak transcription	Fetal Heart	heart
19	chr3:142134200-142152600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:142136400-142157400	Weak transcription	HMEC	breast
21	chr3:142136800-142150800	Strong transcription	Liver	Liver
22	chr3:142138600-142158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:142138600-142164600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:142138800-142163000	Weak transcription	Spleen	Spleen
25	chr3:142139200-142151200	Weak transcription	Right Ventricle	heart
26	chr3:142139400-142156200	Weak transcription	Small Intestine	intestine
27	chr3:142139400-142157000	Weak transcription	Brain Germinal Matrix	brain
28	chr3:142139400-142158600	Weak transcription	Pancreas	Pancrea
29	chr3:142139400-142163200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:142141200-142157000	Weak transcription	Esophagus	oesophagus
31	chr3:142141600-142162400	Weak transcription	Brain Angular Gyrus	brain
32	chr3:142142200-142151200	Weak transcription	Hela-S3	cervix
33	chr3:142142200-142165400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:142142400-142153400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:142142800-142153200	Weak transcription	HUVEC	blood vessel
36	chr3:142143600-142151800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:142144200-142151600	Strong transcription	Adipose Nuclei	Adipose
38	chr3:142145800-142151400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:142145800-142152200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:142146000-142151800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:142146200-142151800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:142146400-142151600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:142146400-142151800	Strong transcription	Fetal Intestine Large	intestine
44	chr3:142146600-142151600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:142146600-142151600	Strong transcription	Fetal Muscle Leg	muscle
46	chr3:142146600-142151600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr3:142146600-142152200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:142146600-142152200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:142146600-142164200	Weak transcription	Stomach Mucosa	stomach
50	chr3:142147000-142151800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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