Variant report

Variant	esv3452096
Chromosome Location	chr3:20158096-20158341
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	chr3:20158113..20160465-chr3:20226227..20229427,3	K562	blood:
2	chr3:20152631..20154314-chr3:20157026..20159607,2	K562	blood:

Variant related genes	Relation type
ENSG00000129810	chromatin interactions
ENSG00000114166	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542239913	chr3:20158102-20158103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557418198	chr3:20158105-20158106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562684063	chr3:20158115-20158116	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575991732	chr3:20158135-20158136	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546484996	chr3:20158207-20158208	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564644357	chr3:20158214-20158215	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528637428	chr3:20158258-20158259	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540477937	chr3:20158264-20158265	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559387739	chr3:20158277-20158278	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187731576	chr3:20158291-20158292	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559158850	chr3:20158336-20158337	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20128200-20175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:20135200-20173800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:20139000-20164000	Weak transcription	Small Intestine	intestine
5	chr3:20139800-20161000	Weak transcription	Fetal Intestine Small	intestine
6	chr3:20141200-20167400	Weak transcription	HSMMtube	muscle
7	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:20142600-20189400	Weak transcription	Fetal Brain Male	brain
9	chr3:20144600-20162000	Weak transcription	Fetal Heart	heart
10	chr3:20146400-20163400	Weak transcription	Brain Germinal Matrix	brain
11	chr3:20147400-20169600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:20147600-20194200	Weak transcription	Dnd41	blood
13	chr3:20148000-20167000	Weak transcription	GM12878-XiMat	blood
14	chr3:20148800-20159200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:20150000-20159800	Strong transcription	Primary T cells from cord blood	blood
16	chr3:20150200-20158600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:20150800-20159400	Strong transcription	Fetal Thymus	thymus
18	chr3:20150800-20166200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:20151000-20196800	Weak transcription	Stomach Mucosa	stomach
20	chr3:20151200-20159800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:20151200-20179000	Weak transcription	Fetal Kidney	kidney
22	chr3:20151600-20158800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:20151600-20175800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:20152000-20182800	Weak transcription	Colonic Mucosa	Colon
25	chr3:20152200-20162600	Strong transcription	Thymus	Thymus
26	chr3:20152400-20159400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr3:20152400-20162600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:20152600-20159200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:20152600-20159600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr3:20152600-20175200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr3:20152800-20159200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr3:20152800-20159200	Strong transcription	Liver	Liver
33	chr3:20152800-20159400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:20152800-20170200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:20152800-20175000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr3:20152800-20176200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:20153000-20159200	Strong transcription	Fetal Lung	lung
38	chr3:20153000-20159400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:20153000-20159400	Strong transcription	Adipose Nuclei	Adipose
40	chr3:20153000-20159400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:20153200-20158800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:20153200-20158800	Strong transcription	Placenta	Placenta
43	chr3:20153200-20159200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:20153200-20159800	Strong transcription	Primary B cells from cord blood	blood
45	chr3:20153400-20159400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:20153400-20167200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:20153600-20169200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:20153800-20158600	Strong transcription	Brain Substantia Nigra	brain
49	chr3:20153800-20161000	Weak transcription	Gastric	stomach
50	chr3:20153800-20161400	Weak transcription	Right Ventricle	heart

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