Variant report

Variant	esv18769
Chromosome Location	chr2:86619882-86620685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86616684..86621383-chr2:86622282..86625754,5	K562	blood:
2	chr2:86619507..86623794-chr2:86667300..86670065,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115548	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59714766	chr2:86619890-86619891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79564062	chr2:86619908-86619909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547262452	chr2:86619953-86619954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs58449699	chr2:86619973-86619974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539693373	chr2:86619980-86619981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532981787	chr2:86619984-86619985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150858007	chr2:86620007-86620008	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371793196	chr2:86620051-86620052	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558007551	chr2:86620058-86620059	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183677177	chr2:86620060-86620061	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536640175	chr2:86620104-86620105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78612094	chr2:86620143-86620144	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567841183	chr2:86620207-86620208	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535362676	chr2:86620257-86620258	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs59544393	chr2:86620269-86620270	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58740162	chr2:86620295-86620296	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs578100934	chr2:86620319-86620320	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554913341	chr2:86620332-86620333	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375430444	chr2:86620343-86620344	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573584444	chr2:86620364-86620365	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189459349	chr2:86620369-86620370	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575856655	chr2:86620400-86620401	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181117694	chr2:86620472-86620473	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561371236	chr2:86620492-86620493	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139243739	chr2:86620508-86620509	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs79723142	chr2:86620522-86620523	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs59206006	chr2:86620537-86620538	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532923188	chr2:86620540-86620541	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538244572	chr2:86620566-86620567	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79710861	chr2:86620607-86620608	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs149996425	chr2:86620619-86620620	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372838401	chr2:86620627-86620628	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115211859	chr2:86620643-86620644	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86615000-86620200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:86615800-86620200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:86619600-86620800	Enhancers	Left Ventricle	heart
4	chr2:86619600-86621200	Enhancers	Fetal Muscle Leg	muscle
5	chr2:86619600-86621600	Enhancers	Fetal Intestine Large	intestine
6	chr2:86619600-86622000	Enhancers	Fetal Intestine Small	intestine
7	chr2:86619800-86620400	Enhancers	Fetal Heart	heart
8	chr2:86619800-86621800	Enhancers	HSMMtube	muscle
9	chr2:86619800-86622800	Enhancers	Psoas Muscle	Psoas
10	chr2:86620000-86621000	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:86620000-86621000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:86620000-86621600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:86620000-86621600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:86620000-86621600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:86620000-86621600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:86620000-86621600	Enhancers	Colonic Mucosa	Colon
17	chr2:86620000-86621600	Enhancers	HSMM	muscle
18	chr2:86620200-86621000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:86620200-86621200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:86620200-86621400	Enhancers	Fetal Lung	lung
21	chr2:86620200-86621400	Enhancers	Stomach Mucosa	stomach
22	chr2:86620200-86621600	Enhancers	Primary T cells from cord blood	blood
23	chr2:86620200-86621600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:86620200-86621600	Enhancers	Fetal Thymus	thymus
25	chr2:86620200-86621600	Enhancers	Pancreas	Pancrea
26	chr2:86620200-86621600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:86620200-86621600	Enhancers	Hela-S3	cervix
28	chr2:86620200-86621800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:86620400-86621200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:86620400-86621200	Flanking Active TSS	Fetal Heart	heart
31	chr2:86620400-86621200	Enhancers	Small Intestine	intestine
32	chr2:86620400-86621200	Enhancers	NHEK	skin
33	chr2:86620400-86621400	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:86620400-86621400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr2:86620400-86621600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:86620400-86621600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:86620400-86621600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:86620400-86621600	Enhancers	Brain Anterior Caudate	brain
39	chr2:86620400-86621600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:86620400-86621600	Enhancers	HMEC	breast
41	chr2:86620600-86620800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:86620600-86621000	Enhancers	Aorta	Aorta
43	chr2:86620600-86621000	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:86620600-86621000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:86620600-86621000	Enhancers	Gastric	stomach
46	chr2:86620600-86621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:86620600-86621400	Enhancers	Brain Angular Gyrus	brain
48	chr2:86620600-86621400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:86620600-86621600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:86620600-86621600	Enhancers	Primary T helper cells PMA-I stimulated	--

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