Variant report

Variant	nsv584016
Chromosome Location	chr2:186301351-186410869
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:13)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186387075..186388294-chr2:186603348..186604298,5	MCF-7	breast:
2	chr2:186378260..186381061-chr2:186398766..186401353,2	K562	blood:
3	chr2:186357997..186360182-chr2:186363444..186366189,2	MCF-7	breast:
4	chr2:186359864..186363240-chr2:186363578..186366648,4	K562	blood:
5	chr15:50184826..50185646-chr2:186340212..186341106,2	MCF-7	breast:
6	chr2:186361713..186363240-chr2:186364874..186366648,2	K562	blood:
7	chr2:186357997..186360182-chr2:186363444..186366189,2	MCF-7	breast:
8	chr2:186378260..186381061-chr2:186398766..186401353,2	K562	blood:
9	chr1:174445047..174445587-chr2:186343137..186343750,2	MCF-7	breast:
10	chr2:186334605..186336794-chr2:186340639..186343119,2	MCF-7	breast:
11	chr2:186359864..186363240-chr2:186363578..186366648,4	K562	blood:
12	chr2:186334605..186336794-chr2:186340639..186343119,2	MCF-7	breast:
13	chr2:186361713..186363240-chr2:186364874..186366648,2	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSIP2-5	chr2:186403858-186404073	NONHSAT075962
2	lnc-FSIP2-5	chr2:186370427-186370468	NONHSAT075962
3	lnc-FSIP2-5	chr2:186327396-186327672	NONHSAT075962
4	lnc-FSIP2-5	chr2:186386989-186387497	NONHSAT075962
5	lnc-FSIP2-5	chr2:186369727-186370202	NONHSAT075962
6	lnc-FSIP2-5	chr2:186347761-186347818	NONHSAT075962
7	lnc-FSIP2-5	chr2:186370211-186370365	NONHSAT075962
8	lnc-ZSWIM2-15	chr2:186311542-186311686	ucscGeneNc_uc002upi_2
9	lnc-FSIP2-5	chr2:186371629-186371957	NONHSAT075962
10	lnc-ZSWIM2-15	chr2:186309034-186309104	ucscGeneNc_uc002upi_2
11	lnc-FSIP2-5	chr2:186366772-186369632	NONHSAT075963
12	lnc-FSIP2-5	chr2:186410448-186410599	NONHSAT075962
13	lnc-FSIP2-5	chr2:186410628-186411001	NONHSAT075962
14	lnc-ZSWIM2-15	chr2:186302301-186302409	ucscGeneNc_uc002upi_2
15	lnc-FSIP2-5	chr2:186408484-186409210	NONHSAT075962
16	lnc-FSIP2-5	chr2:186369880-186375991	NONHSAT075963

No data

Variant related genes	Relation type
ENSG00000226747	chromatin interactions
ENSG00000188738	chromatin interactions

Extended variants
information (count: 4006 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:4006 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1424538	chr2:186301351-186301352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182251662	chr2:186301372-186301373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554803296	chr2:186301399-186301400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143447206	chr2:186301455-186301456	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4347782	chr2:186301501-186301502	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs78856422	chr2:186301520-186301521	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs72892495	chr2:186301544-186301545	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544814414	chr2:186301547-186301548	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147991898	chr2:186301554-186301555	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551174799	chr2:186301558-186301559	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs1424539	chr2:186301577-186301578	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs147150589	chr2:186301603-186301604	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376929308	chr2:186301604-186301605	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113012983	chr2:186301620-186301621	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141785182	chr2:186301656-186301657	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs150174124	chr2:186301725-186301726	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs138657349	chr2:186301835-186301836	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539120349	chr2:186301843-186301844	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547527699	chr2:186301845-186301846	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566176496	chr2:186301862-186301863	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575802261	chr2:186301918-186301919	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542902258	chr2:186301921-186301922	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs13395388	chr2:186302078-186302079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs75702452	chr2:186302101-186302102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs141761235	chr2:186302119-186302120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540658101	chr2:186302217-186302218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368016050	chr2:186302222-186302223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565018009	chr2:186302255-186302256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114121077	chr2:186302260-186302261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186554663	chr2:186302297-186302298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567151103	chr2:186302331-186302332	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs559950019	chr2:186302336-186302337	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs77434467	chr2:186302341-186302342	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs191685050	chr2:186302376-186302377	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs560895531	chr2:186302396-186302397	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs367651227	chr2:186302407-186302408	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs371842480	chr2:186302411-186302412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72042883	chr2:186302479-186302480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs36102982	chr2:186302480-186302481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550146611	chr2:186302489-186302490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535537129	chr2:186302493-186302494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565188057	chr2:186302500-186302501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563293569	chr2:186302507-186302508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146323833	chr2:186302576-186302577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547586357	chr2:186302591-186302592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566013823	chr2:186302610-186302611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182385621	chr2:186302613-186302614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548164181	chr2:186302631-186302632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188528288	chr2:186302649-186302650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537342237	chr2:186302661-186302662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Autism	18522746	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
low-grade B-cell lymphoma tumor	18367492	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
Autism	22543975	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186298200-186315800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:186298600-186315800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:186298800-186314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:186299200-186301400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:186300000-186301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:186300000-186302200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:186300400-186301400	Weak transcription	HMEC	breast
8	chr2:186300800-186303000	Enhancers	NHEK	skin
9	chr2:186301400-186301800	Active TSS	HMEC	breast
10	chr2:186301400-186302000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:186301600-186301800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:186301600-186302000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:186301800-186302000	Flanking Active TSS	HMEC	breast
14	chr2:186301800-186316600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:186302000-186320200	Weak transcription	HMEC	breast
16	chr2:186302200-186303200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:186303000-186315600	Weak transcription	NHEK	skin
18	chr2:186303200-186318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:186308400-186309000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:186309000-186314800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:186309400-186315000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:186312400-186315400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:186313600-186315800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:186314000-186315400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:186314000-186315800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:186314400-186345200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:186314800-186316200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:186314800-186316400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:186315000-186315400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:186315400-186315600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:186315400-186316400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:186315400-186317000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:186315600-186316200	Strong transcription	NHEK	skin
34	chr2:186315600-186318200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:186315800-186316200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:186315800-186316200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:186315800-186316400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:186315800-186316400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:186315800-186317000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr2:186316200-186317400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:186316200-186317600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:186316200-186318200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:186316200-186318400	Weak transcription	NHEK	skin
44	chr2:186316400-186317200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:186316400-186317400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:186316400-186321600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:186316600-186319000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:186317000-186337400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:186317400-186318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:186317400-186319000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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