Variant report

Variant	nsv1044450
Chromosome Location	chr12:105668451-105682822
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105630089..105632839-chr12:105665320..105668612,3	MCF-7	breast:
2	chr12:105673064..105673821-chr12:105772193..105773537,4	MCF-7	breast:
3	chr12:105682504..105683036-chr12:105776820..105777391,2	MCF-7	breast:
4	chr12:105681803..105683314-chr12:105684988..105687486,2	K562	blood:
5	chr12:105682564..105686688-chr12:105688570..105690485,3	K562	blood:
6	chr12:105670361..105673548-chr12:105673621..105675351,3	MCF-7	breast:
7	chr12:105672889..105673823-chr12:105777116..105777625,2	MCF-7	breast:
8	chr12:105672864..105673858-chr12:105772686..105773396,2	MCF-7	breast:
9	chr12:105669318..105671725-chr12:105671991..105674954,2	K562	blood:
10	chr12:105666902..105668565-chr12:105668821..105670480,2	MCF-7	breast:
11	chr12:105669318..105671725-chr12:105671991..105674954,2	K562	blood:
12	chr12:105670361..105673548-chr12:105673621..105675351,3	MCF-7	breast:
13	chr12:105626966..105630516-chr12:105673384..105677025,4	MCF-7	breast:
14	chr12:105628689..105630272-chr12:105669030..105671584,2	MCF-7	breast:
15	chr12:105666902..105668565-chr12:105668821..105670480,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136044	chromatin interactions
ENSG00000235162	chromatin interactions

Extended variants
information (count: 530 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376677239	chr12:105668462-105668463	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs73181843	chr12:105668482-105668483	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557418793	chr12:105668488-105668489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546663927	chr12:105668489-105668490	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566630331	chr12:105668499-105668500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs80035433	chr12:105668502-105668503	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146192983	chr12:105668510-105668511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569527435	chr12:105668551-105668552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369275048	chr12:105668553-105668554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540815724	chr12:105668619-105668620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12580027	chr12:105668660-105668661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575050875	chr12:105668725-105668726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534413990	chr12:105668762-105668763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375701441	chr12:105668787-105668788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12321518	chr12:105668864-105668865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563018069	chr12:105668870-105668871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577021581	chr12:105668873-105668874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545781588	chr12:105668970-105668971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6539200	chr12:105668973-105668974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576271657	chr12:105668977-105668978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370050218	chr12:105668979-105668980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561671657	chr12:105669003-105669004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191054328	chr12:105669026-105669027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547202145	chr12:105669056-105669057	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560206987	chr12:105669062-105669063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532514090	chr12:105669071-105669072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552520045	chr12:105669135-105669136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569190894	chr12:105669136-105669137	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs538252077	chr12:105669275-105669276	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548571347	chr12:105669288-105669289	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs568772456	chr12:105669290-105669291	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs374734271	chr12:105669316-105669317	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560361542	chr12:105669320-105669321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549742425	chr12:105669567-105669568	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554446664	chr12:105669632-105669633	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576991190	chr12:105669634-105669635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183275108	chr12:105669664-105669665	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs539193348	chr12:105669707-105669708	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs527882586	chr12:105669720-105669721	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188631445	chr12:105669765-105669766	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs144924164	chr12:105669774-105669775	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs541814765	chr12:105669819-105669820	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs561611216	chr12:105669868-105669869	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572051863	chr12:105669903-105669904	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540826188	chr12:105669938-105669939	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563965426	chr12:105670023-105670024	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs377463574	chr12:105670035-105670036	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552353084	chr12:105670046-105670047	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs148667428	chr12:105670063-105670064	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563019355	chr12:105670097-105670098	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105659600-105672200	Weak transcription	Aorta	Aorta
2	chr12:105664600-105672200	Weak transcription	HSMM	muscle
3	chr12:105665000-105674200	Weak transcription	Osteobl	bone
4	chr12:105665600-105674800	Weak transcription	NHDF-Ad	bronchial
5	chr12:105667600-105670000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:105667800-105670000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:105667800-105670000	Weak transcription	NHEK	skin
8	chr12:105667800-105670200	Weak transcription	HMEC	breast
9	chr12:105668000-105669800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:105668200-105671800	Weak transcription	Fetal Intestine Small	intestine
11	chr12:105668200-105674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:105668400-105668600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:105668400-105668600	ZNF genes & repeats	Esophagus	oesophagus
14	chr12:105668600-105673400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:105669800-105670400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:105669800-105670600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:105669800-105670600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:105670000-105670400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:105670000-105670400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:105670000-105670400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:105670000-105670400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:105670000-105670400	Enhancers	NHEK	skin
23	chr12:105670000-105670800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:105670200-105670600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:105670200-105670600	Enhancers	Psoas Muscle	Psoas
26	chr12:105670200-105670600	Enhancers	HMEC	breast
27	chr12:105670200-105670800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:105670400-105670600	Enhancers	NHLF	lung
29	chr12:105670400-105674600	Weak transcription	NHEK	skin
30	chr12:105670400-105674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:105670600-105672000	Weak transcription	NHLF	lung
32	chr12:105670600-105675000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:105670600-105675000	Weak transcription	HMEC	breast
34	chr12:105671200-105673200	Enhancers	Fetal Intestine Large	intestine
35	chr12:105671400-105673800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:105671600-105672400	Enhancers	Gastric	stomach
37	chr12:105671800-105672400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:105671800-105672600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:105671800-105672600	Enhancers	A549	lung
40	chr12:105671800-105672800	Enhancers	Fetal Intestine Small	intestine
41	chr12:105671800-105672800	Enhancers	HepG2	liver
42	chr12:105672000-105672400	Enhancers	Pancreas	Pancrea
43	chr12:105672000-105672400	Enhancers	NHLF	lung
44	chr12:105672000-105672800	Enhancers	Stomach Mucosa	stomach
45	chr12:105672200-105672400	Enhancers	Aorta	Aorta
46	chr12:105672200-105672400	Enhancers	HSMM	muscle
47	chr12:105672400-105672600	Weak transcription	Aorta	Aorta
48	chr12:105672400-105673400	Weak transcription	Gastric	stomach
49	chr12:105672400-105673400	Weak transcription	Pancreas	Pancrea
50	chr12:105672400-105673400	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links