Variant report

Variant	nsv515491
Chromosome Location	chr12:1119958-1125475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1112403..1114788-chr12:1124041..1126643,2	MCF-7	breast:
2	chr12:1124727..1126388-chr12:1127610..1130322,2	K562	blood:
3	chr12:1121748..1124121-chr12:1125522..1128122,2	K562	blood:
4	chr12:1123645..1125467-chr12:1128602..1130622,2	MCF-7	breast:
5	chr12:1102489..1104981-chr12:1121749..1123712,2	MCF-7	breast:
6	chr12:1124432..1126227-chr12:1128822..1131462,2	K562	blood:
7	chr12:1105236..1108232-chr12:1119325..1121550,2	K562	blood:
8	chr12:1099457..1102030-chr12:1124374..1127197,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250132	chromatin interactions
ENSG00000082805	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10849618	chr12:1119958-1119959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147747871	chr12:1119962-1119963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551007987	chr12:1120032-1120033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542901402	chr12:1120050-1120051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190619950	chr12:1120086-1120087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562644517	chr12:1120087-1120088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533266944	chr12:1120092-1120093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551662739	chr12:1120124-1120125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373417120	chr12:1120195-1120196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371105302	chr12:1120196-1120197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528486798	chr12:1120230-1120231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566764786	chr12:1120297-1120298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372563662	chr12:1120324-1120325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527343827	chr12:1120327-1120328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548942645	chr12:1120348-1120349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567287091	chr12:1120401-1120402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142630399	chr12:1120405-1120406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557294748	chr12:1120475-1120476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375407205	chr12:1120483-1120484	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77183097	chr12:1120509-1120510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558074670	chr12:1120520-1120521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573176000	chr12:1120530-1120531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553046895	chr12:1120578-1120579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540302649	chr12:1120584-1120585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540221564	chr12:1120633-1120634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565393448	chr12:1120636-1120637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551960392	chr12:1120643-1120644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532470738	chr12:1120672-1120673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571087795	chr12:1120674-1120675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574071921	chr12:1120682-1120683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145802764	chr12:1120727-1120728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550821146	chr12:1120794-1120795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116870445	chr12:1120813-1120814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182886511	chr12:1120826-1120827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373785346	chr12:1120833-1120834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530058101	chr12:1120894-1120895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545220758	chr12:1120993-1120994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs61918690	chr12:1121071-1121072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574824910	chr12:1121108-1121109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566728338	chr12:1121147-1121148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs16932131	chr12:1121152-1121153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187171025	chr12:1121247-1121248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567227432	chr12:1121262-1121263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531311866	chr12:1121287-1121288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549503769	chr12:1121419-1121420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34852282	chr12:1121445-1121446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539669333	chr12:1121474-1121475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73606383	chr12:1121522-1121523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143719444	chr12:1121530-1121531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534478683	chr12:1121534-1121535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	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
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1101000-1123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1101200-1137000	Weak transcription	Lung	lung
3	chr12:1101600-1130400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:1101600-1136800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:1101600-1136800	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:1101600-1137000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:1101800-1131000	Weak transcription	Primary B cells from cord blood	blood
8	chr12:1102000-1122800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:1102000-1137000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:1102000-1137200	Weak transcription	Fetal Lung	lung
11	chr12:1102200-1122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:1102200-1129000	Weak transcription	Primary T cells from cord blood	blood
13	chr12:1102200-1131000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:1102200-1131400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:1102200-1135200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:1102600-1136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:1102600-1137000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:1105000-1122600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:1105000-1122600	Weak transcription	NHDF-Ad	bronchial
20	chr12:1105200-1121200	Weak transcription	A549	lung
21	chr12:1105200-1122600	Weak transcription	HUVEC	blood vessel
22	chr12:1105200-1122800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:1105200-1122800	Weak transcription	NH-A	brain
24	chr12:1105800-1122600	Weak transcription	NHLF	lung
25	chr12:1107000-1122400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:1107000-1128600	Weak transcription	Spleen	Spleen
27	chr12:1107600-1136600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:1107800-1122600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:1107800-1128200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:1108000-1128200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:1108000-1131000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:1108200-1129000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:1110600-1128400	Weak transcription	Fetal Stomach	stomach
34	chr12:1110800-1121600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:1110800-1130400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:1111000-1122600	Weak transcription	Hela-S3	cervix
37	chr12:1111000-1122600	Weak transcription	Osteobl	bone
38	chr12:1111000-1122800	Weak transcription	HSMM	muscle
39	chr12:1111000-1133200	Weak transcription	Placenta	Placenta
40	chr12:1111800-1129600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:1112400-1130400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:1113200-1120000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:1113200-1122600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:1113200-1122800	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:1113200-1130000	Weak transcription	Fetal Intestine Small	intestine
46	chr12:1113200-1131600	Weak transcription	Thymus	Thymus
47	chr12:1113200-1136600	Weak transcription	Fetal Intestine Large	intestine
48	chr12:1113200-1137200	Weak transcription	Brain Anterior Caudate	brain
49	chr12:1113400-1120800	Weak transcription	Right Atrium	heart
50	chr12:1113400-1122600	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links