Variant report

Variant	esv3349102
Chromosome Location	chr2:171904898-171905382
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	chr2:171904774..171907283-chr2:171911427..171914383,3	K562	blood:
2	chr2:171901100..171903739-chr2:171903772..171906509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198586	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145433828	chr2:171904899-171904900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs13409678	chr2:171904936-171904937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536023373	chr2:171904967-171904968	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10930453	chr2:171904988-171904989	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs6734542	chr2:171905083-171905084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs111701445	chr2:171905097-171905098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181710623	chr2:171905122-171905123	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574307220	chr2:171905137-171905138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201814513	chr2:171905139-171905140	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200031759	chr2:171905140-171905141	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375166074	chr2:171905141-171905142	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538506965	chr2:171905142-171905143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201571241	chr2:171905143-171905144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370141787	chr2:171905168-171905169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535950931	chr2:171905204-171905205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373937956	chr2:171905207-171905208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576426746	chr2:171905228-171905229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73027263	chr2:171905232-171905233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs74537264	chr2:171905271-171905272	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6749884	chr2:171905310-171905311	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
3	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:171862600-171918400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:171865800-171905000	Weak transcription	Fetal Heart	heart
7	chr2:171867800-171916200	Weak transcription	Gastric	stomach
8	chr2:171874800-171916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:171878000-171943200	Weak transcription	Small Intestine	intestine
10	chr2:171878800-171940000	Weak transcription	Stomach Mucosa	stomach
11	chr2:171883600-171916200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:171884200-171913000	Strong transcription	Liver	Liver
13	chr2:171888200-171913800	Strong transcription	HepG2	liver
14	chr2:171890400-171912800	Strong transcription	Placenta	Placenta
15	chr2:171890400-171917600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:171891000-171913400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:171891400-171911600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:171892000-171906600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:171892400-171911800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:171892400-171943400	Weak transcription	Spleen	Spleen
21	chr2:171892600-171905000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:171892600-171905000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:171892600-171916200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:171892600-171918200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:171892800-171907600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:171892800-171916200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:171892800-171918000	Weak transcription	NHLF	lung
28	chr2:171893000-171913600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:171893200-171918400	Weak transcription	Fetal Brain Female	brain
30	chr2:171894800-171912400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:171895000-171912400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:171895000-171918000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr2:171895400-171917600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr2:171895600-171907000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:171895600-171912400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:171895800-171911200	Strong transcription	Fetal Intestine Large	intestine
37	chr2:171895800-171914200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:171895800-171918000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:171896400-171912400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:171897000-171905000	Weak transcription	Brain Anterior Caudate	brain
41	chr2:171897200-171917600	Strong transcription	Primary B cells from cord blood	blood
42	chr2:171897800-171909800	Strong transcription	HSMM	muscle
43	chr2:171898000-171908400	Weak transcription	Hela-S3	cervix
44	chr2:171898200-171916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:171898200-171916200	Weak transcription	Ovary	ovary
46	chr2:171898200-171916200	Weak transcription	Thymus	Thymus
47	chr2:171898200-171916400	Weak transcription	Lung	lung
48	chr2:171898200-171928800	Weak transcription	Fetal Stomach	stomach
49	chr2:171898200-171946200	Weak transcription	Pancreas	Pancrea
50	chr2:171899000-171906200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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