Variant report

Variant	esv1696778
Chromosome Location	chr3:20106804-20106805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20102932..20104698-chr3:20105187..20107405,2	K562	blood:
2	chr3:20096569..20098445-chr3:20104189..20106827,2	MCF-7	breast:
3	chr3:19987687..19990266-chr3:20104517..20106901,2	K562	blood:
4	chr3:20105530..20108149-chr3:20143893..20147714,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163576	chromatin interactions
ENSG00000144566	chromatin interactions

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	rs66950718	chr3:20106805-20106806	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20099000-20122600	Weak transcription	Aorta	Aorta
2	chr3:20099400-20108600	Weak transcription	Fetal Stomach	stomach
3	chr3:20099400-20112600	Weak transcription	HSMMtube	muscle
4	chr3:20099400-20112800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:20099400-20122600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:20099400-20122800	Weak transcription	Lung	lung
7	chr3:20100000-20109200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:20102800-20113400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:20103000-20108400	Weak transcription	Fetal Thymus	thymus
11	chr3:20103000-20108400	Weak transcription	Osteobl	bone
12	chr3:20103000-20111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:20103200-20107600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:20103200-20108400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:20103200-20108400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:20103200-20108600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:20103200-20108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:20103200-20108600	Weak transcription	NHDF-Ad	bronchial
19	chr3:20103200-20108800	Weak transcription	A549	lung
20	chr3:20103200-20110400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:20103200-20112600	Weak transcription	Primary T cells from cord blood	blood
22	chr3:20103200-20112800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr3:20103200-20113000	Weak transcription	Primary B cells from cord blood	blood
24	chr3:20103200-20113000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:20103200-20113000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:20103200-20113200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:20103200-20114000	Weak transcription	Liver	Liver
28	chr3:20103200-20119400	Weak transcription	Fetal Intestine Small	intestine
29	chr3:20103200-20122200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:20104000-20111000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:20104200-20107800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:20104200-20111800	Enhancers	Brain Substantia Nigra	brain
33	chr3:20104400-20108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:20104400-20113400	Enhancers	Brain Hippocampus Middle	brain
35	chr3:20105000-20111000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:20105200-20107200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr3:20105200-20110800	Enhancers	HMEC	breast
38	chr3:20105400-20107000	Enhancers	Brain Angular Gyrus	brain
39	chr3:20105400-20108000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:20105400-20108000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:20105800-20107000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr3:20105800-20107200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr3:20105800-20108200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr3:20105800-20108400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:20105800-20113200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:20106000-20107000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr3:20106000-20107000	Enhancers	Placenta	Placenta
48	chr3:20106000-20107000	Enhancers	Right Ventricle	heart
49	chr3:20106000-20107000	Enhancers	Small Intestine	intestine
50	chr3:20106000-20107200	Enhancers	Right Atrium	heart

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