Variant report

Variant	esv3447094
Chromosome Location	chr2:73675490-73676246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr2:73675968-73676046	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73672159..73673962-chr2:73674354..73675957,2	K562	blood:
2	chr2:73673350..73675381-chr2:73675662..73678567,2	MCF-7	breast:

Variant related genes	Relation type
ALMS1	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148040591	chr2:73675492-73675493	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377341653	chr2:73675510-73675511	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193922693	chr2:73675519-73675520	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs41291187	chr2:73675525-73675526	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373831151	chr2:73675538-73675539	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531859344	chr2:73675540-73675541	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398122995	chr2:73675551-73675552	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116033693	chr2:73675553-73675554	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146234123	chr2:73675587-73675588	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199682595	chr2:73675630-73675631	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201316401	chr2:73675631-73675632	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28730850	chr2:73675653-73675654	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200210826	chr2:73675662-73675663	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2037814	chr2:73675669-73675670	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs374151754	chr2:73675676-73675677	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199573929	chr2:73675690-73675691	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115444326	chr2:73675692-73675693	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190439406	chr2:73675695-73675696	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34442050	chr2:73675698-73675699	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549883815	chr2:73675700-73675701	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201804994	chr2:73675719-73675720	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200535382	chr2:73675748-73675749	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs267599446	chr2:73675769-73675770	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571389435	chr2:73675776-73675777	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538606139	chr2:73675777-73675778	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367641723	chr2:73675782-73675783	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371524359	chr2:73675788-73675789	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs387906313	chr2:73675792-73675793	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199572177	chr2:73675806-73675807	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572605877	chr2:73675838-73675839	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536950181	chr2:73675841-73675842	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397897413	chr2:73675843-73675844	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7598901	chr2:73675844-73675845	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs569911295	chr2:73675880-73675881	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151027635	chr2:73675892-73675893	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140940799	chr2:73675894-73675895	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576564708	chr2:73675899-73675900	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200827630	chr2:73675923-73675924	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182082784	chr2:73675937-73675938	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373936479	chr2:73675947-73675948	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565010166	chr2:73675949-73675950	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377000488	chr2:73675950-73675951	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187132771	chr2:73675963-73675964	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28730851	chr2:73675973-73675974	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549457439	chr2:73675999-73676000	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs17848880	chr2:73676008-73676009	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs370372529	chr2:73676024-73676025	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs530083993	chr2:73676050-73676051	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369159368	chr2:73676057-73676058	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138921247	chr2:73676070-73676071	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73637800-73676200	Weak transcription	Fetal Brain Male	brain
2	chr2:73645600-73676600	Weak transcription	NH-A	brain
3	chr2:73645600-73685600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:73647000-73684000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:73652000-73678400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:73652200-73688400	Weak transcription	Colonic Mucosa	Colon
7	chr2:73658400-73676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:73660200-73684400	Weak transcription	HUVEC	blood vessel
9	chr2:73663600-73680600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:73663800-73689400	Weak transcription	NHDF-Ad	bronchial
11	chr2:73664400-73676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:73664400-73678400	Weak transcription	K562	blood
13	chr2:73664400-73684200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:73664600-73676000	Weak transcription	GM12878-XiMat	blood
15	chr2:73664600-73683600	Weak transcription	A549	lung
16	chr2:73665000-73684400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:73665200-73675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:73665200-73675600	Weak transcription	Brain Angular Gyrus	brain
19	chr2:73665200-73682200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:73665400-73675800	Weak transcription	Fetal Lung	lung
21	chr2:73665400-73676200	Weak transcription	Fetal Heart	heart
22	chr2:73665400-73677200	Weak transcription	HSMMtube	muscle
23	chr2:73665600-73677200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:73665800-73675800	Weak transcription	Fetal Kidney	kidney
25	chr2:73667800-73679600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:73672400-73681200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:73673000-73687200	Weak transcription	NHEK	skin
28	chr2:73673200-73684600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:73673400-73678400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:73673400-73681000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:73673800-73677600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr2:73673800-73679600	Strong transcription	Ovary	ovary
33	chr2:73673800-73681200	Strong transcription	Fetal Thymus	thymus
34	chr2:73674000-73676200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:73674000-73677800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:73674000-73677800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:73674000-73679600	Strong transcription	Adipose Nuclei	Adipose
38	chr2:73674000-73681000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:73674000-73683800	Strong transcription	Dnd41	blood
40	chr2:73674200-73684200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:73674400-73676000	Strong transcription	Liver	Liver
42	chr2:73674400-73677800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:73674400-73683000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:73674600-73675800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:73674600-73676200	Strong transcription	Gastric	stomach
46	chr2:73674600-73676600	Strong transcription	Esophagus	oesophagus
47	chr2:73674600-73677000	Strong transcription	Pancreas	Pancrea
48	chr2:73674600-73677000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr2:73674600-73677000	Strong transcription	Hela-S3	cervix
50	chr2:73674600-73677400	Strong transcription	Rectal Mucosa Donor 29	rectum

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