Variant report

Variant	nsv819526
Chromosome Location	chr2:209170009-209170540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209165926..209168166-chr2:209169181..209171206,2	K562	blood:
2	chr2:209128359..209130743-chr2:209169171..209171063,2	K562	blood:
3	chr2:209166666..209169529-chr2:209169706..209171903,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185081064	chr2:209170032-209170033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188318152	chr2:209170132-209170133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559029089	chr2:209170133-209170134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558209175	chr2:209170148-209170149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73983732	chr2:209170149-209170150	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542422210	chr2:209170163-209170164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558975093	chr2:209170170-209170171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193181717	chr2:209170233-209170234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534547561	chr2:209170301-209170302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541701440	chr2:209170331-209170332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551492896	chr2:209170340-209170341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142601552	chr2:209170381-209170382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71412488	chr2:209170408-209170409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35792869	chr2:209170409-209170410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs41311599	chr2:209170416-209170417	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551263249	chr2:209170447-209170448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372088089	chr2:209170469-209170470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536796883	chr2:209170472-209170473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185250564	chr2:209170510-209170511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547977681	chr2:209170511-209170512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147962703	chr2:209170532-209170533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
3	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
5	chr2:209149600-209179800	Strong transcription	Dnd41	blood
6	chr2:209156000-209180000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:209157200-209173600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:209159200-209182200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:209159800-209179400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:209160000-209188800	Weak transcription	Small Intestine	intestine
11	chr2:209162400-209171400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:209162400-209171400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:209162400-209172000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:209162400-209172000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr2:209162400-209174600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:209162600-209171000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:209162600-209171200	Strong transcription	Liver	Liver
18	chr2:209162800-209170800	Strong transcription	HepG2	liver
19	chr2:209162800-209171400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:209162800-209171600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:209162800-209171800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:209162800-209173000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:209163000-209170800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:209163000-209171400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:209163000-209187400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:209163200-209170200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:209163200-209170200	Strong transcription	Brain Hippocampus Middle	brain
28	chr2:209163200-209171200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:209163200-209171400	Strong transcription	Adipose Nuclei	Adipose
30	chr2:209163200-209171400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:209163200-209171400	Strong transcription	HUVEC	blood vessel
32	chr2:209163200-209171600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:209163200-209177000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr2:209163200-209180600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:209163200-209187400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:209163400-209170200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:209163400-209170200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:209163400-209170200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:209163400-209170200	Strong transcription	Brain Anterior Caudate	brain
40	chr2:209163400-209170200	Strong transcription	Brain Cingulate Gyrus	brain
41	chr2:209163400-209170200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:209163400-209170200	Strong transcription	HSMM	muscle
43	chr2:209163400-209170800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:209163400-209171400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:209163400-209171400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:209163400-209171400	Strong transcription	Fetal Lung	lung
47	chr2:209163400-209171800	Strong transcription	Left Ventricle	heart
48	chr2:209163400-209172200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:209163400-209172400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:209163400-209172600	Strong transcription	Placenta	Placenta

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