Variant report

Variant	nsv431890
Chromosome Location	chr2:189175905-189202876
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189167037..189169913-chr2:189190017..189191810,2	K562	blood:
2	chr2:189157067..189159474-chr2:189179752..189181844,2	K562	blood:
3	chr2:189186048..189188901-chr2:189195647..189197599,2	K562	blood:
4	chr2:189157075..189159103-chr2:189189922..189191822,3	K562	blood:
5	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:
6	chr2:189192790..189195620-chr2:189206349..189207946,2	MCF-7	breast:
7	chr2:189186452..189188771-chr2:189190439..189192055,2	MCF-7	breast:
8	chr2:189157973..189160899-chr2:189186398..189188411,2	MCF-7	breast:
9	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
10	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
11	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:
12	chr2:189176846..189180605-chr2:189180936..189184581,4	K562	blood:
13	chr2:189159403..189162059-chr2:189193708..189195307,2	K562	blood:
14	chr2:189182622..189184644-chr2:189189029..189191672,2	K562	blood:
15	chr2:189153673..189157464-chr2:189183823..189187433,3	MCF-7	breast:
16	chr2:189182622..189184644-chr2:189189029..189191672,2	K562	blood:
17	chr2:189157067..189161608-chr2:189179360..189183934,6	K562	blood:
18	chr2:189186452..189188771-chr2:189190439..189192055,2	MCF-7	breast:
19	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:
20	chr2:189155671..189159103-chr2:189189018..189193192,5	K562	blood:
21	chr2:189176846..189180605-chr2:189180936..189184581,4	K562	blood:
22	chr2:189186048..189188901-chr2:189195647..189197599,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144366	chromatin interactions

Extended variants
information (count: 908 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:908 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11688935	chr2:189175905-189175906	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188420920	chr2:189175913-189175914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377628953	chr2:189175929-189175930	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561160230	chr2:189175946-189175947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563693199	chr2:189175955-189175956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531433933	chr2:189175962-189175963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549932695	chr2:189175999-189176000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565073883	chr2:189176016-189176017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs532444609	chr2:189176067-189176068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181315851	chr2:189176078-189176079	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs184981662	chr2:189176080-189176081	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs534302401	chr2:189176112-189176113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549179696	chr2:189176121-189176122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567724108	chr2:189176132-189176133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538088370	chr2:189176144-189176145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs13430779	chr2:189176324-189176325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556717395	chr2:189176344-189176345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371444900	chr2:189176384-189176385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76978621	chr2:189176386-189176387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142346694	chr2:189176439-189176440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59837963	chr2:189176440-189176441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398060885	chr2:189176444-189176445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200519117	chr2:189176445-189176446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34589032	chr2:189176448-189176449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35219895	chr2:189176507-189176508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10197499	chr2:189176525-189176526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs10197505	chr2:189176543-189176544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs150136159	chr2:189176552-189176553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542194098	chr2:189176599-189176600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566162576	chr2:189176663-189176664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202034063	chr2:189176665-189176666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560854179	chr2:189176696-189176697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4402720	chr2:189176708-189176709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs191201730	chr2:189176726-189176727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565042501	chr2:189176742-189176743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532457209	chr2:189176820-189176821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138833051	chr2:189176854-189176855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560495414	chr2:189176860-189176861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573989963	chr2:189176907-189176908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527711326	chr2:189176922-189176923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541779463	chr2:189176924-189176925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549341583	chr2:189176933-189176934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567703615	chr2:189176974-189176975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560127614	chr2:189176976-189176977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538293137	chr2:189177004-189177005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527710183	chr2:189177099-189177100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552580713	chr2:189177107-189177108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183818420	chr2:189177116-189177117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7425596	chr2:189177128-189177129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs554073638	chr2:189177170-189177171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
2	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
3	chr2:189168200-189183200	Weak transcription	Ovary	ovary
4	chr2:189168800-189183200	Weak transcription	A549	lung
5	chr2:189169400-189187200	Weak transcription	NHLF	lung
6	chr2:189170400-189177000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:189170600-189181200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:189170600-189183200	Weak transcription	Gastric	stomach
9	chr2:189171600-189176400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:189171600-189179200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:189171600-189179200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:189172600-189179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:189172800-189182600	Weak transcription	NHDF-Ad	bronchial
14	chr2:189173400-189178400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:189173400-189180000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:189173600-189176600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:189173600-189178600	Weak transcription	HUVEC	blood vessel
18	chr2:189173800-189179200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:189174000-189181200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:189174600-189178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:189175800-189176000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr2:189175800-189176200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr2:189175800-189178800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:189178200-189178400	ZNF genes & repeats	Fetal Lung	lung
25	chr2:189178400-189182200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:189178400-189191400	Weak transcription	Fetal Lung	lung
27	chr2:189178600-189180600	Enhancers	HUVEC	blood vessel
28	chr2:189178600-189182000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:189178800-189179200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:189178800-189179400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:189178800-189179600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:189178800-189180400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:189178800-189182000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:189178800-189182200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:189179000-189179600	Enhancers	K562	blood
36	chr2:189179000-189180000	Enhancers	NH-A	brain
37	chr2:189179000-189181400	Enhancers	HMEC	breast
38	chr2:189179000-189182000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:189179000-189182000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:189179000-189183000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:189179200-189179400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:189179200-189179800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:189179200-189179800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:189179200-189179800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:189179200-189179800	Enhancers	Brain Hippocampus Middle	brain
46	chr2:189179200-189180400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:189179400-189179600	Enhancers	Osteobl	bone
48	chr2:189179400-189179800	Active TSS	Brain Anterior Caudate	brain
49	chr2:189179400-189180000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:189179400-189181800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links