Variant report

Variant	nsv1005680
Chromosome Location	chr2:187244500-187320653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187309255..187311222-chr2:187349576..187351207,2	K562	blood:
2	chr2:187314908..187317613-chr2:187318535..187320583,2	K562	blood:
3	chr2:187250943..187253754-chr2:187257161..187259354,2	MCF-7	breast:
4	chr2:187314908..187317613-chr2:187318535..187320583,2	K562	blood:
5	chr2:187307548..187314532-chr2:187345746..187353147,10	K562	blood:
6	chr2:187278384..187280283-chr2:187283538..187285268,2	K562	blood:
7	chr2:187284387..187285958-chr2:187350092..187352490,2	MCF-7	breast:
8	chr2:187282655..187284995-chr2:187288097..187289675,2	K562	blood:
9	chr2:187278384..187280283-chr2:187283538..187285268,2	K562	blood:
10	chr2:186676855..186679682-chr2:187312216..187314480,2	MCF-7	breast:
11	chr2:187241723..187244147-chr2:187246787..187249454,2	MCF-7	breast:
12	chr2:187282655..187284995-chr2:187288097..187289675,2	K562	blood:
13	chr2:187306167..187309743-chr2:187310167..187312032,3	K562	blood:
14	chr2:187303788..187305427-chr2:187350144..187352436,2	K562	blood:
15	chr2:187305246..187310683-chr2:187312852..187317322,5	K562	blood:
16	chr2:187306167..187309743-chr2:187310167..187312032,3	K562	blood:
17	chr2:187247609..187249365-chr2:187349297..187352052,2	K562	blood:
18	chr2:187305246..187310683-chr2:187312852..187317322,5	K562	blood:
19	chr2:187309177..187311666-chr2:187386026..187388228,2	K562	blood:
20	chr2:187250943..187253754-chr2:187257161..187259354,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-3	chr2:187249030-187249978	NONHSAT075981
2	lnc-ZSWIM2-9	chr2:187257285-187257647	NONHSAT075993
3	lnc-ZC3H15-1	chr2:187319228-187321649	NONHSAT075995
4	lnc-ZSWIM2-3	chr2:187288141-187289010	NONHSAT075981
5	lnc-ZSWIM2-3	chr2:187265288-187266622	NONHSAT075981

No data

Variant related genes	Relation type
ENSG00000065548	chromatin interactions

Extended variants
information (count: 2346 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2346 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574497605	chr2:187244619-187244620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72895412	chr2:187244683-187244684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146157984	chr2:187244694-187244695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148763233	chr2:187244720-187244721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546136010	chr2:187244744-187244745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528173778	chr2:187244752-187244753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372715139	chr2:187244774-187244775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573114703	chr2:187244781-187244782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540640166	chr2:187244791-187244792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562016207	chr2:187244792-187244793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181486378	chr2:187244836-187244837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548391439	chr2:187244868-187244869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141512702	chr2:187244876-187244877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150888600	chr2:187244877-187244878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185950762	chr2:187244906-187244907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12993773	chr2:187244907-187244908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534294715	chr2:187244936-187244937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139513768	chr2:187244991-187244992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368160805	chr2:187245065-187245066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376710245	chr2:187245083-187245084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144309508	chr2:187245199-187245200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557131771	chr2:187245211-187245212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368797048	chr2:187245238-187245239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372376482	chr2:187245244-187245245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147760062	chr2:187245255-187245256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539654783	chr2:187245295-187245296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13411835	chr2:187245301-187245302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573505485	chr2:187245302-187245303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540243629	chr2:187245343-187245344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562149389	chr2:187245384-187245385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574045391	chr2:187245470-187245471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139469421	chr2:187245473-187245474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145280245	chr2:187245536-187245537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372191675	chr2:187245561-187245562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11303211	chr2:187245572-187245573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552422255	chr2:187245587-187245588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548006800	chr2:187245730-187245731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549831367	chr2:187245750-187245751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145068372	chr2:187245788-187245789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113285625	chr2:187245789-187245790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369186136	chr2:187245804-187245805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568096311	chr2:187245815-187245816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535086791	chr2:187245828-187245829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547902344	chr2:187245864-187245865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550221199	chr2:187245894-187245895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149121445	chr2:187245896-187245897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113553995	chr2:187245904-187245905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539619367	chr2:187245947-187245948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1037241	chr2:187245978-187245979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs573445054	chr2:187245992-187245993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187242600-187246000	Enhancers	HepG2	liver
2	chr2:187242600-187247800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:187244200-187250400	Weak transcription	Pancreas	Pancrea
4	chr2:187244200-187256000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:187244600-187244800	Enhancers	Ovary	ovary
6	chr2:187244800-187245400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:187245000-187246400	Weak transcription	Ovary	ovary
8	chr2:187245400-187246600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:187245800-187246400	Weak transcription	Fetal Intestine Small	intestine
10	chr2:187246000-187246400	Weak transcription	HepG2	liver
11	chr2:187246400-187246800	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr2:187246400-187246800	Enhancers	Ovary	ovary
13	chr2:187246400-187247000	Enhancers	HepG2	liver
14	chr2:187246800-187247600	Weak transcription	Ovary	ovary
15	chr2:187246800-187249800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:187247000-187247400	Flanking Active TSS	HepG2	liver
17	chr2:187247000-187248800	Enhancers	Liver	Liver
18	chr2:187247200-187247400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:187247400-187249400	Enhancers	HepG2	liver
20	chr2:187247600-187247800	Active TSS	Ovary	ovary
21	chr2:187247600-187248200	Enhancers	A549	lung
22	chr2:187247800-187248000	Flanking Active TSS	Ovary	ovary
23	chr2:187247800-187248200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:187249400-187249600	Weak transcription	HepG2	liver
25	chr2:187249600-187250800	ZNF genes & repeats	HepG2	liver
26	chr2:187249800-187250800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:187249800-187251000	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr2:187249800-187251400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:187250400-187250800	ZNF genes & repeats	Pancreas	Pancrea
30	chr2:187250600-187251000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
31	chr2:187251000-187252200	Weak transcription	Pancreas	Pancrea
32	chr2:187251400-187251600	ZNF genes & repeats	Liver	Liver
33	chr2:187263600-187265000	Enhancers	GM12878-XiMat	blood
34	chr2:187265200-187277400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:187270400-187271200	Enhancers	Fetal Intestine Small	intestine
36	chr2:187271200-187275400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:187272400-187274400	Weak transcription	Aorta	Aorta
38	chr2:187272800-187275000	Weak transcription	Primary T cells from cord blood	blood
39	chr2:187272800-187275600	Weak transcription	HepG2	liver
40	chr2:187273600-187286800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:187274200-187294000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:187274400-187274600	ZNF genes & repeats	Aorta	Aorta
43	chr2:187275000-187275600	Strong transcription	Primary T cells from cord blood	blood
44	chr2:187275600-187276000	Enhancers	HepG2	liver
45	chr2:187275600-187290800	Weak transcription	Primary T cells from cord blood	blood
46	chr2:187275800-187276200	Enhancers	Liver	Liver
47	chr2:187276000-187279400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:187276000-187281400	Weak transcription	HepG2	liver
49	chr2:187276000-187287000	Weak transcription	Ovary	ovary
50	chr2:187276200-187281000	Weak transcription	Liver	Liver

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