Variant report

Variant	nsv963887
Chromosome Location	chr2:187239111-187253365
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187247609..187249365-chr2:187349297..187352052,2	K562	blood:
2	chr2:187237291..187240227-chr2:187242053..187243654,2	MCF-7	breast:
3	chr2:187241723..187244147-chr2:187246787..187249454,2	MCF-7	breast:
4	chr2:187241723..187244147-chr2:187246787..187249454,2	MCF-7	breast:
5	chr2:187250943..187253754-chr2:187257161..187259354,2	MCF-7	breast:
6	chr2:187237291..187240227-chr2:187242053..187243654,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-3	chr2:187249030-187249978	NONHSAT075981

No data

Variant related genes	Relation type
ENSG00000065548	chromatin interactions

Extended variants
information (count: 454 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528257757	chr2:187239171-187239172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564951664	chr2:187239172-187239173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532385194	chr2:187239177-187239178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148291199	chr2:187239209-187239210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561809517	chr2:187239294-187239295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550772370	chr2:187239295-187239296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12693448	chr2:187239303-187239304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs568553474	chr2:187239322-187239323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184150602	chr2:187239358-187239359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368196387	chr2:187239362-187239363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551016882	chr2:187239440-187239441	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566243194	chr2:187239443-187239444	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534102751	chr2:187239474-187239475	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141404028	chr2:187239482-187239483	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548609383	chr2:187239613-187239614	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574233439	chr2:187239621-187239622	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146313671	chr2:187239662-187239663	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556593859	chr2:187239671-187239672	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566810482	chr2:187239677-187239678	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534054445	chr2:187239697-187239698	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545428856	chr2:187239779-187239780	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188824565	chr2:187239803-187239804	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572594431	chr2:187239846-187239847	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540032686	chr2:187239847-187239848	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561952813	chr2:187239860-187239861	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529168933	chr2:187239867-187239868	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180832749	chr2:187239872-187239873	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139754738	chr2:187239892-187239893	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570839786	chr2:187239903-187239904	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10169206	chr2:187239940-187239941	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs185433436	chr2:187239962-187239963	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566206264	chr2:187239981-187239982	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527412828	chr2:187240041-187240042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549302246	chr2:187240088-187240089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374739202	chr2:187240126-187240127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35397907	chr2:187240128-187240129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541686125	chr2:187240142-187240143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367835656	chr2:187240143-187240144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182190222	chr2:187240146-187240147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571987653	chr2:187240148-187240149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539006997	chr2:187240151-187240152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554236393	chr2:187240184-187240185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556330303	chr2:187240200-187240201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574801526	chr2:187240267-187240268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572432962	chr2:187240288-187240289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543151090	chr2:187240293-187240294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555272318	chr2:187240365-187240366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71340041	chr2:187240424-187240425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10182083	chr2:187240425-187240426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562413130	chr2:187240539-187240540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187214400-187239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187239400-187240000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:187240000-187243600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:187240600-187241200	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr2:187240600-187241400	Enhancers	Placenta	Placenta
6	chr2:187242600-187246000	Enhancers	HepG2	liver
7	chr2:187242600-187247800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:187243200-187243400	Enhancers	Placenta	Placenta
9	chr2:187243400-187243800	Enhancers	Fetal Intestine Large	intestine
10	chr2:187243600-187244200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:187243600-187244200	Enhancers	K562	blood
12	chr2:187243800-187244200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:187243800-187244200	Enhancers	NHEK	skin
14	chr2:187244000-187244200	Enhancers	Pancreas	Pancrea
15	chr2:187244200-187250400	Weak transcription	Pancreas	Pancrea
16	chr2:187244200-187256000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:187244600-187244800	Enhancers	Ovary	ovary
18	chr2:187244800-187245400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:187245000-187246400	Weak transcription	Ovary	ovary
20	chr2:187245400-187246600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:187245800-187246400	Weak transcription	Fetal Intestine Small	intestine
22	chr2:187246000-187246400	Weak transcription	HepG2	liver
23	chr2:187246400-187246800	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr2:187246400-187246800	Enhancers	Ovary	ovary
25	chr2:187246400-187247000	Enhancers	HepG2	liver
26	chr2:187246800-187247600	Weak transcription	Ovary	ovary
27	chr2:187246800-187249800	Weak transcription	Fetal Intestine Small	intestine
28	chr2:187247000-187247400	Flanking Active TSS	HepG2	liver
29	chr2:187247000-187248800	Enhancers	Liver	Liver
30	chr2:187247200-187247400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:187247400-187249400	Enhancers	HepG2	liver
32	chr2:187247600-187247800	Active TSS	Ovary	ovary
33	chr2:187247600-187248200	Enhancers	A549	lung
34	chr2:187247800-187248000	Flanking Active TSS	Ovary	ovary
35	chr2:187247800-187248200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:187249400-187249600	Weak transcription	HepG2	liver
37	chr2:187249600-187250800	ZNF genes & repeats	HepG2	liver
38	chr2:187249800-187250800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:187249800-187251000	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr2:187249800-187251400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:187250400-187250800	ZNF genes & repeats	Pancreas	Pancrea
42	chr2:187250600-187251000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
43	chr2:187251000-187252200	Weak transcription	Pancreas	Pancrea
44	chr2:187251400-187251600	ZNF genes & repeats	Liver	Liver

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