Variant report

Variant	esv2048401
Chromosome Location	chr3:20028401-20028402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20027209..20028836-chr3:20081202..20083011,2	K562	blood:
2	chr3:20027470..20029591-chr3:20033923..20036338,3	K562	blood:
3	chr3:20026329..20028709-chr3:20079789..20082702,2	K562	blood:
4	chr3:20027598..20030041-chr3:20034679..20036338,2	K562	blood:
5	chr3:20022682..20025378-chr3:20026127..20028940,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114166	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 73 )

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	rs61111067	chr3:20028402-20028403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Autism	20531469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20008800-20035600	Weak transcription	Psoas Muscle	Psoas
2	chr3:20012400-20033600	Weak transcription	Fetal Brain Male	brain
3	chr3:20015200-20030000	Strong transcription	Fetal Thymus	thymus
4	chr3:20021800-20029400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:20023000-20045800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:20023400-20029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:20024000-20031200	Weak transcription	HSMM	muscle
8	chr3:20024000-20041400	Weak transcription	Ovary	ovary
9	chr3:20024200-20028600	Weak transcription	Colonic Mucosa	Colon
10	chr3:20024200-20030600	Weak transcription	Hela-S3	cervix
11	chr3:20024200-20031000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:20024200-20031200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:20024200-20031800	Weak transcription	Left Ventricle	heart
14	chr3:20024200-20033200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:20024200-20033400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:20024200-20036800	Weak transcription	Aorta	Aorta
17	chr3:20024200-20051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:20024400-20028600	Weak transcription	Brain Substantia Nigra	brain
19	chr3:20024400-20029000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:20024400-20029200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:20024400-20029800	Weak transcription	Spleen	Spleen
22	chr3:20024400-20030600	Weak transcription	Thymus	Thymus
23	chr3:20024400-20034000	Weak transcription	Brain Germinal Matrix	brain
24	chr3:20024600-20029000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:20024800-20029000	Weak transcription	Fetal Intestine Small	intestine
26	chr3:20024800-20030800	Weak transcription	Fetal Stomach	stomach
27	chr3:20024800-20031600	Weak transcription	Lung	lung
28	chr3:20024800-20031800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:20025400-20028600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr3:20025400-20028600	Weak transcription	GM12878-XiMat	blood
31	chr3:20025400-20029000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:20025400-20029000	Weak transcription	NHDF-Ad	bronchial
33	chr3:20025400-20029600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:20025400-20030600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:20025400-20031800	Weak transcription	Fetal Brain Female	brain
36	chr3:20025400-20033200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:20025600-20028600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:20025600-20028600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr3:20025600-20029000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:20025600-20029000	Weak transcription	K562	blood
41	chr3:20025600-20033400	Weak transcription	Brain Angular Gyrus	brain
42	chr3:20025800-20029000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:20025800-20029200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:20025800-20029200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:20025800-20029800	Weak transcription	Brain Anterior Caudate	brain
46	chr3:20025800-20030400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:20025800-20030600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:20026000-20028800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:20026200-20029000	Weak transcription	Fetal Muscle Leg	muscle
50	chr3:20026200-20031000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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