Variant report

Variant	nsv231465
Chromosome Location	chr3:141290883-141290884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141173922..141177182-chr3:141288723..141292910,3	MCF-7	breast:
2	chr3:141289820..141291967-chr3:141293825..141295688,2	MCF-7	breast:
3	chr3:141279547..141282126-chr3:141289816..141292776,2	K562	blood:
4	chr3:141205222..141206757-chr3:141290019..141291835,2	K562	blood:
5	chr3:141289287..141291021-chr3:141292681..141295308,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155903	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 53 )

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	rs71837437	chr3:141290884-141290885	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
T-cell prolymphocytic leukemia	17713554	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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141236400-141301000	Weak transcription	Brain Substantia Nigra	brain
2	chr3:141236400-141306600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:141236600-141297000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:141236600-141299400	Weak transcription	Gastric	stomach
5	chr3:141237000-141299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:141243400-141299400	Weak transcription	Spleen	Spleen
7	chr3:141254600-141294400	Weak transcription	Esophagus	oesophagus
8	chr3:141254800-141291400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:141254800-141292200	Weak transcription	Left Ventricle	heart
10	chr3:141254800-141295200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:141254800-141299200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:141254800-141299400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:141254800-141299400	Weak transcription	Right Ventricle	heart
14	chr3:141254800-141319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:141255200-141304800	Weak transcription	Ovary	ovary
16	chr3:141255200-141320000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:141255400-141319200	Weak transcription	Aorta	Aorta
18	chr3:141257000-141300200	Weak transcription	Pancreas	Pancrea
19	chr3:141263600-141292000	Weak transcription	Colonic Mucosa	Colon
20	chr3:141265200-141336200	Weak transcription	Psoas Muscle	Psoas
21	chr3:141267400-141295000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:141268400-141297800	Weak transcription	Fetal Heart	heart
23	chr3:141269200-141294400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:141271200-141299400	Weak transcription	Brain Angular Gyrus	brain
25	chr3:141272400-141291400	Weak transcription	GM12878-XiMat	blood
26	chr3:141272600-141319200	Strong transcription	Dnd41	blood
27	chr3:141275800-141320600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:141276000-141299400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:141276200-141291000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:141276200-141291200	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:141276200-141291200	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:141276200-141291400	Weak transcription	Fetal Brain Female	brain
33	chr3:141276200-141297000	Weak transcription	Lung	lung
34	chr3:141276400-141329400	Weak transcription	Small Intestine	intestine
35	chr3:141276600-141291400	Weak transcription	Fetal Lung	lung
36	chr3:141276600-141292200	Weak transcription	HSMMtube	muscle
37	chr3:141277200-141297000	Weak transcription	Thymus	Thymus
38	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:141277400-141293600	Weak transcription	Fetal Kidney	kidney
40	chr3:141277600-141296400	Weak transcription	Hela-S3	cervix
41	chr3:141277800-141312000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr3:141278000-141296800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:141279200-141292200	Weak transcription	NHLF	lung
44	chr3:141281800-141297000	Weak transcription	Fetal Intestine Small	intestine
45	chr3:141281800-141329400	Weak transcription	Fetal Brain Male	brain
46	chr3:141283400-141295000	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:141284000-141291800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:141284400-141291000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:141284600-141292200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:141284600-141299200	Weak transcription	Fetal Stomach	stomach

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