Variant report

Variant	esv3432293
Chromosome Location	chr2:73617544-73620842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73606604..73608316-chr2:73620841..73623295,2	K562	blood:
2	chr2:73618845..73621154-chr2:73644120..73646425,2	K562	blood:
3	chr2:73612039..73615002-chr2:73617704..73619772,2	K562	blood:
4	chr2:73611989..73613657-chr2:73619928..73621499,2	K562	blood:
5	chr2:73615311..73618219-chr2:73646836..73648927,2	K562	blood:

Variant related genes	Relation type
ENSG00000116127	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191997177	chr2:73617558-73617559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181518621	chr2:73617569-73617570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550410459	chr2:73617647-73617648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568885570	chr2:73617707-73617708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533382093	chr2:73617730-73617731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142567769	chr2:73617746-73617747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554310204	chr2:73617755-73617756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs80172562	chr2:73617765-73617766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186591228	chr2:73617786-73617787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190058729	chr2:73617832-73617833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200835743	chr2:73617908-73617909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142388896	chr2:73617923-73617924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376614379	chr2:73617925-73617926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538198661	chr2:73617962-73617963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556386854	chr2:73617972-73617973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150526913	chr2:73617984-73617985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545700241	chr2:73617985-73617986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373741695	chr2:73618046-73618047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557959507	chr2:73618099-73618100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573206145	chr2:73618121-73618122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540521409	chr2:73618124-73618125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139934076	chr2:73618130-73618131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528892774	chr2:73618133-73618134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544162846	chr2:73618145-73618146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562467895	chr2:73618158-73618159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537883971	chr2:73618190-73618191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs76784587	chr2:73618193-73618194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528732301	chr2:73618197-73618198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377055812	chr2:73618198-73618199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182667989	chr2:73618204-73618205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528025711	chr2:73618206-73618207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549269079	chr2:73618231-73618232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs72907392	chr2:73618232-73618233	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537867108	chr2:73618242-73618243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1609824	chr2:73618260-73618261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140402880	chr2:73618282-73618283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571917037	chr2:73618304-73618305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571676474	chr2:73618330-73618331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539117149	chr2:73618387-73618388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558021334	chr2:73618413-73618414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376168465	chr2:73618422-73618423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77803924	chr2:73618438-73618439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs397972016	chr2:73618439-73618440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199613354	chr2:73618452-73618453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149945705	chr2:73618486-73618487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533936722	chr2:73618546-73618547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575988745	chr2:73618548-73618549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539014430	chr2:73618552-73618553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186940120	chr2:73618555-73618556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543896939	chr2:73618566-73618567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73614000-73626200	Weak transcription	Lung	lung
2	chr2:73614200-73626200	Weak transcription	HSMM	muscle
3	chr2:73614400-73626200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:73614400-73626400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:73614400-73626400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:73614600-73641600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:73614800-73625200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:73614800-73628600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:73615000-73619000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:73615000-73621400	Weak transcription	Fetal Stomach	stomach
11	chr2:73615000-73626200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:73615000-73626200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:73615000-73626400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:73615000-73626400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:73615000-73626600	Weak transcription	Ovary	ovary
16	chr2:73615000-73628400	Weak transcription	Hela-S3	cervix
17	chr2:73615000-73645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:73615000-73646800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:73615200-73621600	Weak transcription	Fetal Lung	lung
20	chr2:73615200-73621800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:73615200-73626000	Weak transcription	Primary T cells from cord blood	blood
22	chr2:73615200-73626200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:73615200-73626200	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:73615200-73626200	Weak transcription	Thymus	Thymus
25	chr2:73615200-73646400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:73616000-73626200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:73616200-73625000	Weak transcription	Dnd41	blood
28	chr2:73616400-73626200	Weak transcription	HepG2	liver
29	chr2:73619000-73619200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:73620000-73641200	Weak transcription	Osteobl	bone
31	chr2:73620600-73620800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:73620800-73624800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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