Variant report

Variant	nsv963771
Chromosome Location	chr2:209101041-209101541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:209101409-209101454	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:209101220-209101406	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:209101165-209101219	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:209099467-209120161	K562	blood:	n/a	n/a
5	POLR2A	chr2:209101088-209101089	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:209101221-209101271	HCF	heart:	n/a
2	chr2:209101221-209101271	A549	lung:	n/a
3	chr2:209101221-209101271	GM19239	blood:	n/a
4	chr2:209101221-209101271	HCPEpiC	choroid plexus:	n/a
5	chr2:209101221-209101271	AG10803	skin:	n/a
6	chr2:209101221-209101271	GM12891	blood:	n/a
7	chr2:209101221-209101271	BE2_C	brain:	n/a
8	chr2:209101221-209101271	SAEC	small airway:	n/a
9	chr2:209101221-209101271	HL-60	blood:	n/a
10	chr2:209101221-209101271	PFSK-1	brain:	n/a
11	chr2:209101221-209101271	AG09309	skin:	n/a
12	chr2:209101221-209101271	Jurkat	blood:	n/a
13	chr2:209101221-209101271	HCM	heart:	n/a
14	chr2:209101221-209101271	NHBE	bronchial:	n/a
15	chr2:209101221-209101271	K562	blood:	n/a
16	chr2:209101221-209101271	NT2-D1	testis:	n/a
17	chr2:209101221-209101271	MCF-7	breast:	n/a
18	chr2:209101221-209101271	NB4	blood:	n/a
19	chr2:209101221-209101271	Caco-2	colon:	n/a
20	chr2:209101221-209101271	HRPEpiC	eye:	n/a
21	chr2:209101221-209101271	HRE	kidney:	n/a
22	chr2:209101221-209101271	LNCaP	prostate:	n/a
23	chr2:209101221-209101271	H1-hESC	embryonic stem cell:	embryo
24	chr2:209101221-209101271	HAEpiC	amniotic membrane:	n/a
25	chr2:209101221-209101271	ProgFib	skin:	n/a
26	chr2:209101221-209101271	GM12892	blood:	n/a
27	chr2:209101221-209101271	T-47D	breast:	n/a
28	chr2:209101221-209101271	AG04450	lung:	fetal
29	chr2:209101221-209101271	HEK293	kidney:	embryo
30	chr2:209101221-209101271	AG09319	gingival:	n/a
31	chr2:209101221-209101271	AoSMC	blood vessel:	n/a
32	chr2:209101221-209101271	GM12878	blood:	n/a
33	chr2:209101221-209101271	HCT-116	colon:	n/a
34	chr2:209101221-209101271	SKMC	muscle:	n/a
35	chr2:209101221-209101271	HMEC	breast:	n/a
36	chr2:209101221-209101271	IMR90	lung:	fetal
37	chr2:209101221-209101271	AG04449	skin:	fetal
38	chr2:209101221-209101271	PANC-1	pancreas:	n/a
39	chr2:209101221-209101271	Hela-S3	cervix:	n/a
40	chr2:209101221-209101271	SK-N-SH_RA	brain:	n/a
41	chr2:209101221-209101271	PrEC	prostate:	n/a
42	chr2:209101221-209101271	GM06990	blood:	n/a
43	chr2:209101221-209101271	HEEpiC	esophagus:	n/a
44	chr2:209101221-209101271	HRCEpiC	kidney:	n/a
45	chr2:209101221-209101271	HUVEC	blood vessel:	n/a
46	chr2:209101221-209101271	HIPEpiC	eye:	n/a
47	chr2:209101221-209101271	SK-N-SH	brain:	n/a
48	chr2:209101221-209101271	HNPCEpiC	eye:	n/a
49	chr2:209101221-209101271	MCF10A-Er-Src	breast:	n/a
50	chr2:209101221-209101271	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
ENSG00000263524	TF binding region
ENSG00000263524	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369225330	chr2:209101065-209101066	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs15344	chr2:209101096-209101097	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557788219	chr2:209101099-209101100	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs576632204	chr2:209101127-209101128	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs16841606	chr2:209101163-209101164	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs557950423	chr2:209101191-209101192	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs180928167	chr2:209101202-209101203	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs575807296	chr2:209101203-209101204	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs150906753	chr2:209101221-209101222	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs6730955	chr2:209101311-209101312	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561722525	chr2:209101409-209101410	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs1044416	chr2:209101467-209101468	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs369898908	chr2:209101508-209101509	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs564140008	chr2:209101509-209101510	Weak transcription Strong transcription	TF binding region	1 gene(s)	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:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209087600-209103400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:209090000-209103000	Weak transcription	Osteobl	bone
3	chr2:209090000-209104400	Weak transcription	NHEK	skin
4	chr2:209091000-209102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:209093000-209118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:209095200-209101600	Weak transcription	HepG2	liver
7	chr2:209095400-209101800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:209096200-209104400	Weak transcription	HSMM	muscle
9	chr2:209097200-209101400	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:209097200-209101800	Weak transcription	Fetal Lung	lung
11	chr2:209097200-209102000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:209097200-209102000	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:209097400-209104600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:209097600-209101800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:209097800-209101400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:209097800-209103000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:209097800-209103800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:209097800-209104400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:209098200-209101200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:209098200-209102800	Weak transcription	Lung	lung
21	chr2:209098200-209103000	Weak transcription	Esophagus	oesophagus
22	chr2:209098200-209103400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:209098400-209101600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:209098400-209101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:209098400-209103000	Weak transcription	Brain Angular Gyrus	brain
26	chr2:209098400-209103200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:209098400-209103400	Weak transcription	GM12878-XiMat	blood
28	chr2:209098400-209104400	Weak transcription	Pancreas	Pancrea
29	chr2:209098800-209101200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:209098800-209101800	Weak transcription	Brain Substantia Nigra	brain
31	chr2:209098800-209101800	Weak transcription	HSMMtube	muscle
32	chr2:209098800-209102000	Weak transcription	Right Ventricle	heart
33	chr2:209098800-209103000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:209098800-209103200	Weak transcription	NH-A	brain
35	chr2:209098800-209109400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:209098800-209112200	Weak transcription	Colonic Mucosa	Colon
37	chr2:209099000-209103400	Weak transcription	Thymus	Thymus
38	chr2:209099000-209104600	Weak transcription	Small Intestine	intestine
39	chr2:209099000-209106400	Weak transcription	Psoas Muscle	Psoas
40	chr2:209099200-209101400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:209099200-209101800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:209099200-209102000	Weak transcription	Fetal Intestine Large	intestine
43	chr2:209099400-209110400	Weak transcription	NHLF	lung
44	chr2:209099600-209103200	Weak transcription	K562	blood
45	chr2:209099600-209103400	Weak transcription	Spleen	Spleen
46	chr2:209099600-209113000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:209099600-209114600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:209099800-209101400	Weak transcription	Hela-S3	cervix
49	chr2:209099800-209101400	Weak transcription	HUVEC	blood vessel
50	chr2:209099800-209101600	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links