Variant report

Variant	nsv898570
Chromosome Location	chr12:575633-611309
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:592627..596074-chr12:611199..615537,4	K562	blood:
2	chr12:593081..594822-chr12:595662..597681,2	MCF-7	breast:
3	chr12:593305..594856-chr12:602067..604374,2	K562	blood:
4	chr12:579325..581351-chr12:586759..589716,2	MCF-7	breast:
5	chr12:592281..595019-chr12:599966..602441,2	MCF-7	breast:
6	chr12:562294..562804-chr12:608079..608940,2	MCF-7	breast:
7	chr12:602358..605293-chr12:611922..614455,2	MCF-7	breast:
8	chr12:609770..612442-chr12:616470..618259,2	MCF-7	breast:
9	chr12:593081..594822-chr12:595662..597681,2	MCF-7	breast:
10	chr12:579325..581351-chr12:586759..589716,2	MCF-7	breast:
11	chr12:593305..594856-chr12:602067..604374,2	K562	blood:
12	chr12:595976..598882-chr12:613425..615039,3	MCF-7	breast:
13	chr12:568218..570488-chr12:587646..590152,3	K562	blood:
14	chr12:610332..613763-chr12:616552..619652,4	MCF-7	breast:
15	chr12:589171..589964-chr12:633097..633983,2	MCF-7	breast:
16	chr12:611154..613945-chr12:632166..635023,2	MCF-7	breast:
17	chr12:592281..595019-chr12:599966..602441,2	MCF-7	breast:
18	chr12:592627..596074-chr12:611199..615537,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139044	chromatin interactions

Extended variants
information (count: 1564 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1564 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12426898	chr12:575633-575634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555142655	chr12:575642-575643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34372483	chr12:575708-575709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144328236	chr12:575712-575713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11063090	chr12:575718-575719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559000964	chr12:575723-575724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527334620	chr12:575735-575736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147805051	chr12:575778-575779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs57967039	chr12:575802-575803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192149919	chr12:575819-575820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139540954	chr12:575879-575880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185876300	chr12:575977-575978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368853062	chr12:575989-575990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547262951	chr12:576012-576013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567821278	chr12:576017-576018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34716573	chr12:576037-576038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs563087249	chr12:576061-576062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189434942	chr12:576113-576114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551825053	chr12:576135-576136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539976616	chr12:576139-576140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61916613	chr12:576183-576184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563762939	chr12:576217-576218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374873091	chr12:576245-576246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528069390	chr12:576265-576266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72516309	chr12:576310-576311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34388397	chr12:576311-576312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs33963946	chr12:576312-576313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142530798	chr12:576348-576349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375396007	chr12:576351-576352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4980823	chr12:576393-576394	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550799100	chr12:576394-576395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150929892	chr12:576450-576451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539050813	chr12:576476-576477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537558083	chr12:576506-576507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559065324	chr12:576522-576523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577196209	chr12:576530-576531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11063094	chr12:576534-576535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4980918	chr12:576541-576542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575072210	chr12:576581-576582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4980824	chr12:576593-576594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs554620816	chr12:576595-576596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563546210	chr12:576612-576613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141336511	chr12:576618-576619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7301029	chr12:576637-576638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs550166402	chr12:576640-576641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138898371	chr12:576651-576652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528116845	chr12:576655-576656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4980825	chr12:576674-576675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7133891	chr12:576677-576678	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs529198043	chr12:576700-576701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:570200-579400	Weak transcription	Lung	lung
2	chr12:571000-590200	Weak transcription	Esophagus	oesophagus
3	chr12:571400-576600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:571400-577800	Weak transcription	Gastric	stomach
5	chr12:571600-579000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:572200-579200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:572400-582400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:572600-577800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:572800-582800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:573200-584800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:574400-576600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:574400-577800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:574400-577800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:574400-578000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:574400-579000	Weak transcription	Psoas Muscle	Psoas
16	chr12:574400-579200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:574400-582800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:574600-576000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:574600-576800	Weak transcription	NHEK	skin
20	chr12:574800-580000	Enhancers	Fetal Heart	heart
21	chr12:575000-582400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:575200-578000	Weak transcription	Right Ventricle	heart
23	chr12:575200-582000	Weak transcription	Aorta	Aorta
24	chr12:575400-575800	Enhancers	Fetal Kidney	kidney
25	chr12:575400-576800	Weak transcription	HSMMtube	muscle
26	chr12:575400-578600	Weak transcription	Pancreas	Pancrea
27	chr12:575400-582600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:575600-575800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:575600-576000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr12:575600-576000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:575600-576400	Weak transcription	Left Ventricle	heart
32	chr12:575600-576800	Weak transcription	Colonic Mucosa	Colon
33	chr12:575600-576800	Weak transcription	Fetal Intestine Large	intestine
34	chr12:575600-576800	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:575600-576800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:575600-577600	Weak transcription	Fetal Intestine Small	intestine
37	chr12:575600-577600	Weak transcription	Stomach Mucosa	stomach
38	chr12:575800-578200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:576000-576400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:576000-576400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:576000-576400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:576400-577000	Enhancers	Left Ventricle	heart
43	chr12:576400-578200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:576400-578800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr12:576400-579200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr12:576600-577000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:576600-579800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:576800-577000	Enhancers	Colonic Mucosa	Colon
49	chr12:576800-577000	Enhancers	Fetal Muscle Leg	muscle
50	chr12:576800-577000	Enhancers	Skeletal Muscle Female	skeletal muscle

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