Variant report

Variant	nsv534341
Chromosome Location	chr2:189200405-189368467
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:68)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:189314011..189316872-chr2:189317006..189319445,2	K562	blood:
2	chr2:189366557..189368547-chr2:189369752..189373297,3	MCF-7	breast:
3	chr2:189252210..189254786-chr2:189270636..189272826,2	MCF-7	breast:
4	chr2:189201975..189204837-chr2:189208043..189211799,3	K562	blood:
5	chr2:189296000..189298110-chr2:189301316..189302981,2	K562	blood:
6	chr2:189296000..189298110-chr2:189301316..189302981,2	K562	blood:
7	chr14:27457318..27457983-chr2:189342722..189343617,2	MCF-7	breast:
8	chr2:189243159..189245968-chr2:189269525..189271329,2	MCF-7	breast:
9	chr2:189336721..189339436-chr2:189342195..189344064,2	MCF-7	breast:
10	chr2:189211594..189213777-chr2:189218302..189220048,2	MCF-7	breast:
11	chr2:189357879..189360494-chr2:189362422..189365223,2	K562	blood:
12	chr2:189156172..189158874-chr2:189261815..189263750,2	MCF-7	breast:
13	chr2:189206358..189208167-chr2:189210303..189213295,2	K562	blood:
14	chr2:189155560..189158939-chr2:189231780..189236991,6	MCF-7	breast:
15	chr2:189207622..189210437-chr2:189226980..189229019,2	K562	blood:
16	chr2:189317504..189319279-chr2:189326348..189328960,2	K562	blood:
17	chr2:189305712..189307613-chr2:189312855..189315391,2	MCF-7	breast:
18	chr2:189228878..189231358-chr2:189242598..189245349,3	MCF-7	breast:
19	chr2:189216542..189219160-chr2:189223081..189224726,2	MCF-7	breast:
20	chr2:189288445..189291113-chr2:189295850..189297489,2	K562	blood:
21	chr2:189357879..189360494-chr2:189362422..189365223,2	K562	blood:
22	chr2:189338353..189340295-chr2:189347852..189349635,2	MCF-7	breast:
23	chr2:189252210..189254786-chr2:189270636..189272826,2	MCF-7	breast:
24	chr2:188994514..188995025-chr2:189228372..189228945,2	MCF-7	breast:
25	chr2:189202492..189204837-chr2:189207740..189211799,3	K562	blood:
26	chr2:189281923..189283556-chr2:189285039..189287990,2	MCF-7	breast:
27	chr2:189157000..189158643-chr2:189362497..189364899,2	MCF-7	breast:
28	chr2:189206358..189208167-chr2:189210303..189213295,2	K562	blood:
29	chr2:189336721..189339436-chr2:189342195..189344064,2	MCF-7	breast:
30	chr2:189216542..189219160-chr2:189223081..189224726,2	MCF-7	breast:
31	chr2:189155646..189157521-chr2:189309426..189311990,2	MCF-7	breast:
32	chr2:189156137..189157141-chr2:189233874..189234902,3	MCF-7	breast:
33	chr2:189205126..189207839-chr2:189209515..189212152,3	MCF-7	breast:
34	chr2:189228878..189231358-chr2:189242598..189245349,3	MCF-7	breast:
35	chr2:189211594..189213777-chr2:189218302..189220048,2	MCF-7	breast:
36	chr2:189271625..189274546-chr2:189280305..189282747,2	K562	blood:
37	chr2:189181542..189183620-chr2:189198410..189201258,2	K562	blood:
38	chr2:189329502..189332485-chr2:189340700..189342982,2	MCF-7	breast:
39	chr2:189269523..189271101-chr2:189286917..189288426,2	K562	blood:
40	chr2:189329502..189332485-chr2:189340700..189342982,2	MCF-7	breast:
41	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
42	chr2:189271625..189274546-chr2:189280305..189282747,2	K562	blood:
43	chr2:189212933..189215088-chr2:189218654..189220782,2	MCF-7	breast:
44	chr2:189305712..189307613-chr2:189312855..189315391,2	MCF-7	breast:
45	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
46	chr2:189350444..189353078-chr2:189355041..189357306,2	MCF-7	breast:
47	chr2:189338353..189340295-chr2:189347852..189349635,2	MCF-7	breast:
48	chr2:189028049..189028737-chr2:189234214..189234730,2	K562	blood:
49	chr2:189317504..189319279-chr2:189326348..189328960,2	K562	blood:
50	chr2:189314011..189316872-chr2:189317006..189319445,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144366	chromatin interactions

Extended variants
information (count: 5656 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:5656 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576599027	chr2:189200415-189200416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186074084	chr2:189200436-189200437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190787134	chr2:189200441-189200442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs67086516	chr2:189200470-189200471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541045478	chr2:189200491-189200492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10460383	chr2:189200513-189200514	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529694753	chr2:189200583-189200584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548340506	chr2:189200639-189200640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148652288	chr2:189200657-189200658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370707735	chr2:189200667-189200668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552303448	chr2:189200695-189200696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570664804	chr2:189200713-189200714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116773734	chr2:189200719-189200720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573097776	chr2:189200751-189200752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374084178	chr2:189200791-189200792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546467770	chr2:189200798-189200799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565770313	chr2:189200808-189200809	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115615568	chr2:189200834-189200835	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142160589	chr2:189200919-189200920	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576433889	chr2:189200985-189200986	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34142333	chr2:189201010-189201011	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533709532	chr2:189201021-189201022	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112932645	chr2:189201022-189201023	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537254206	chr2:189201071-189201072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558730894	chr2:189201094-189201095	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559069981	chr2:189201097-189201098	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577637698	chr2:189201098-189201099	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541776538	chr2:189201149-189201150	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560074530	chr2:189201166-189201167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574527871	chr2:189201197-189201198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541808432	chr2:189201207-189201208	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116105036	chr2:189201214-189201215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530587691	chr2:189201227-189201228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113442050	chr2:189201232-189201233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546699700	chr2:189201239-189201240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200705509	chr2:189201245-189201246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552103564	chr2:189201267-189201268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566910398	chr2:189201269-189201270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528255236	chr2:189201325-189201326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112580784	chr2:189201327-189201328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546529343	chr2:189201337-189201338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568009339	chr2:189201354-189201355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536248436	chr2:189201380-189201381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548521676	chr2:189201401-189201402	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570064997	chr2:189201430-189201431	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537521092	chr2:189201478-189201479	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183058825	chr2:189201490-189201491	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577549237	chr2:189201492-189201493	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535223284	chr2:189201494-189201495	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553750390	chr2:189201504-189201505	Weak transcription ZNF genes & repeats Strong transcription	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
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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1540 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:189187800-189204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:189192000-189205000	Weak transcription	Fetal Stomach	stomach
6	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
7	chr2:189194600-189218200	Weak transcription	Gastric	stomach
8	chr2:189195400-189200800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189197200-189200600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:189197200-189200600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:189197200-189200600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:189198000-189202000	Weak transcription	Pancreas	Pancrea
13	chr2:189198600-189201200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:189198600-189209000	Weak transcription	Fetal Kidney	kidney
15	chr2:189198800-189201200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:189198800-189204000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:189198800-189205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:189198800-189206000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:189199000-189200600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:189199000-189210000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:189199200-189201200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:189199200-189204200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:189199400-189201200	Weak transcription	Fetal Lung	lung
24	chr2:189199400-189202000	Weak transcription	Psoas Muscle	Psoas
25	chr2:189199400-189202400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:189199400-189204000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:189199400-189210800	Weak transcription	HUVEC	blood vessel
28	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
29	chr2:189199800-189200800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:189199800-189203600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:189199800-189209000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:189199800-189212000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:189200000-189203400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:189200400-189203400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:189200600-189203600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:189200600-189203800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:189200600-189203800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:189200600-189221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:189200800-189201200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:189200800-189202800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:189201200-189201400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:189201200-189201400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:189201200-189201800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:189201200-189202400	Strong transcription	Fetal Lung	lung
45	chr2:189201200-189205000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:189201400-189202400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:189201400-189209600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:189201800-189202600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:189202000-189203200	Enhancers	Pancreas	Pancrea
50	chr2:189202400-189204600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links