Variant report

Variant	esv18887
Chromosome Location	chr2:74310554-74311049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74303366..74305130-chr2:74308677..74311311,2	K562	blood:
2	chr2:74230315..74232342-chr2:74308990..74310979,2	K562	blood:
3	chr2:74210805..74212342-chr2:74309790..74311328,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187491331	chr2:74310562-74310563	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370533056	chr2:74310593-74310594	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79103577	chr2:74310597-74310598	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577007158	chr2:74310599-74310600	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540709796	chr2:74310621-74310622	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552916103	chr2:74310651-74310652	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575057500	chr2:74310669-74310670	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542531340	chr2:74310699-74310700	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563605154	chr2:74310735-74310736	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531012883	chr2:74310784-74310785	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13021880	chr2:74310787-74310788	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527272072	chr2:74310810-74310811	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552250548	chr2:74310833-74310834	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190288224	chr2:74310850-74310851	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78232936	chr2:74310881-74310882	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116767813	chr2:74310890-74310891	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531337899	chr2:74310893-74310894	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549860979	chr2:74310907-74310908	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148248977	chr2:74310940-74310941	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568132374	chr2:74310955-74310956	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375487746	chr2:74310986-74310987	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376549142	chr2:74311005-74311006	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142831536	chr2:74311043-74311044	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72907193	chr2:74311045-74311046	Strong transcription Weak transcription Genic enhancers	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74264800-74311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
3	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
4	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine
6	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:74287400-74314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:74287600-74310600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:74298400-74320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:74299800-74332000	Strong transcription	Dnd41	blood
11	chr2:74299800-74333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:74300000-74314200	Weak transcription	HMEC	breast
13	chr2:74300000-74333200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:74300800-74333600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:74301800-74318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:74303200-74321000	Weak transcription	Fetal Brain Male	brain
17	chr2:74304600-74314000	Weak transcription	Stomach Mucosa	stomach
18	chr2:74305000-74316600	Weak transcription	Right Atrium	heart
19	chr2:74305800-74313200	Weak transcription	Fetal Heart	heart
20	chr2:74306000-74332400	Strong transcription	Fetal Intestine Small	intestine
21	chr2:74306400-74332000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:74306600-74311400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:74306800-74311200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:74306800-74311400	Strong transcription	Fetal Stomach	stomach
25	chr2:74306800-74311400	Strong transcription	NHEK	skin
26	chr2:74306800-74311600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:74306800-74316800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:74306800-74323000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:74306800-74323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:74306800-74323600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:74306800-74323600	Strong transcription	Brain Germinal Matrix	brain
32	chr2:74306800-74323600	Strong transcription	Fetal Intestine Large	intestine
33	chr2:74306800-74330400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:74307000-74310800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:74307000-74324200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:74307000-74332600	Strong transcription	Primary T cells from cord blood	blood
37	chr2:74307200-74311200	Strong transcription	Lung	lung
38	chr2:74307200-74311800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:74307200-74331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:74307200-74332600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:74307200-74333000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:74307400-74311000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:74307400-74311200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:74307400-74311200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:74307400-74311800	Strong transcription	HepG2	liver
46	chr2:74307400-74314800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:74307400-74322600	Strong transcription	Fetal Brain Female	brain
48	chr2:74307400-74323600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:74307400-74325200	Strong transcription	Fetal Thymus	thymus
50	chr2:74307400-74326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links