Variant report

Variant	esv2343954
Chromosome Location	chr3:20141300-20141302
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	chr3:20138975..20141320-chr3:20146365..20149046,3	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 74 )

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	rs11128939	chr3:20141301-20141302	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Prostate cancer	19363497	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20123000-20153000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:20123200-20153200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:20128200-20175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:20131800-20153000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:20132800-20152400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:20134600-20143200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr3:20134600-20145400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:20134800-20143000	Strong transcription	Primary B cells from cord blood	blood
10	chr3:20135200-20145800	Weak transcription	Fetal Brain Female	brain
11	chr3:20135200-20173800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:20136200-20145400	Strong transcription	Fetal Thymus	thymus
13	chr3:20136400-20143200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:20136600-20143800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr3:20136800-20143200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:20137000-20150000	Weak transcription	K562	blood
17	chr3:20137400-20156600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:20137600-20153000	Weak transcription	Spleen	Spleen
19	chr3:20137800-20141400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:20137800-20142600	Weak transcription	Adipose Nuclei	Adipose
21	chr3:20137800-20145200	Weak transcription	GM12878-XiMat	blood
22	chr3:20137800-20150200	Weak transcription	Lung	lung
23	chr3:20137800-20150200	Weak transcription	Right Ventricle	heart
24	chr3:20137800-20153000	Weak transcription	Esophagus	oesophagus
25	chr3:20137800-20153000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:20137800-20153200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:20138000-20142400	Weak transcription	Left Ventricle	heart
28	chr3:20138000-20145400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:20138000-20145600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:20138000-20150400	Weak transcription	Fetal Intestine Large	intestine
31	chr3:20138000-20152800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:20138000-20153000	Weak transcription	Aorta	Aorta
33	chr3:20138000-20153000	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:20138800-20148000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:20138800-20152600	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:20138800-20156400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:20139000-20152800	Weak transcription	Liver	Liver
38	chr3:20139000-20152800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:20139000-20164000	Weak transcription	Small Intestine	intestine
40	chr3:20139600-20141400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:20139800-20147400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:20139800-20161000	Weak transcription	Fetal Intestine Small	intestine
43	chr3:20140200-20141800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr3:20140200-20141800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:20140200-20141800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:20140200-20143000	Enhancers	Brain Cingulate Gyrus	brain
47	chr3:20140200-20143200	Enhancers	Dnd41	blood
48	chr3:20140200-20143400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:20140200-20143400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:20140200-20143400	Enhancers	Brain Substantia Nigra	brain

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