Variant report

Variant	nsv1052275
Chromosome Location	chr12:104008918-104044241
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104026094..104026958-chr12:104035452..104036525,4	MCF-7	breast:
2	chr12:103979608..103980912-chr12:104026115..104027121,4	MCF-7	breast:
3	chr12:104025253..104027244-chr12:104037198..104039505,2	MCF-7	breast:
4	chr12:103889685..103890653-chr12:104026137..104026683,3	MCF-7	breast:
5	chr12:103979507..103980822-chr12:104025776..104026985,11	MCF-7	breast:
6	chr12:104026135..104027046-chr12:104165031..104165600,2	MCF-7	breast:
7	chr12:104026094..104026958-chr12:104035452..104036525,4	MCF-7	breast:
8	chr12:103949935..103952101-chr12:104021910..104024698,2	MCF-7	breast:
9	chr12:104026119..104026638-chr12:104139773..104140466,2	MCF-7	breast:
10	chr12:103890051..103890606-chr12:104026106..104027016,2	MCF-7	breast:
11	chr12:103341040..103341834-chr12:104026112..104026896,2	MCF-7	breast:
12	chr12:104026137..104026675-chr12:104162137..104162827,2	MCF-7	breast:
13	chr12:103968837..103969670-chr12:104026108..104026999,6	MCF-7	breast:
14	chr12:104025253..104027244-chr12:104037198..104039505,2	MCF-7	breast:
15	chr12:103342424..103343260-chr12:104026105..104026642,2	MCF-7	breast:
16	chr12:103968812..103969756-chr12:104025690..104026992,7	K562	blood:
17	chr12:103968730..103969710-chr12:104025919..104027004,17	MCF-7	breast:
18	chr12:103276730..103277595-chr12:104026088..104027014,3	K562	blood:
19	chr12:104020008..104020914-chr12:104271652..104272393,3	MCF-7	breast:
20	chr12:104026409..104027005-chr12:104162186..104163033,2	MCF-7	breast:
21	chr12:103342700..103343279-chr12:104026379..104027168,3	MCF-7	breast:
22	chr12:104000010..104000726-chr12:104026150..104027124,2	K562	blood:
23	chr12:104026106..104026994-chr17:77396890..77397621,2	MCF-7	breast:
24	chr12:104026169..104027011-chr17:56179668..56180510,2	MCF-7	breast:
25	chr12:104026123..104026928-chr12:104138981..104139804,2	MCF-7	breast:
26	chr12:104031257..104033295-chr12:104039042..104040756,2	K562	blood:
27	chr12:103942134..103943335-chr12:104026188..104026936,4	MCF-7	breast:
28	chr12:104031257..104033295-chr12:104039042..104040756,2	K562	blood:
29	chr12:104026112..104026905-chr12:104163740..104164680,2	MCF-7	breast:
30	chr12:104020272..104021047-chr12:104139685..104140350,2	MCF-7	breast:
31	chr12:103946561..103948004-chr12:104026087..104026962,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257681	chromatin interactions
ENSG00000179088	chromatin interactions

Extended variants
information (count: 1362 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1362 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568924661	chr12:104011403-104011404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181930386	chr12:104011404-104011405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550511793	chr12:104011458-104011459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186426353	chr12:104011465-104011466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536021541	chr12:104011485-104011486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76801977	chr12:104011506-104011507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73394064	chr12:104011524-104011525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538755292	chr12:104011611-104011612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564336374	chr12:104011692-104011693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80002447	chr12:104011734-104011735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs697198	chr12:104011735-104011736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372920764	chr12:104011751-104011752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374347118	chr12:104011756-104011757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555342758	chr12:104011760-104011761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557576820	chr12:104011763-104011764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540422964	chr12:104011835-104011836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560757123	chr12:104011860-104011861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113636979	chr12:104011883-104011884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190939166	chr12:104011954-104011955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562542603	chr12:104011975-104011976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531637427	chr12:104011996-104011997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575897352	chr12:104012030-104012031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548188677	chr12:104012066-104012067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180814269	chr12:104012101-104012102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3851628	chr12:104012108-104012109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546444458	chr12:104012159-104012160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566694199	chr12:104012172-104012173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538715577	chr12:104012196-104012197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552347943	chr12:104012233-104012234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149520529	chr12:104012238-104012239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537799468	chr12:104012264-104012265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375679990	chr12:104012266-104012267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554552251	chr12:104012276-104012277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144126071	chr12:104012284-104012285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568267153	chr12:104012289-104012290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534520958	chr12:104012290-104012291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117158255	chr12:104012299-104012300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577048331	chr12:104012303-104012304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144540181	chr12:104012345-104012346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562605348	chr12:104012365-104012366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140723027	chr12:104012382-104012383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76079616	chr12:104012388-104012389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116520145	chr12:104012431-104012432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550608848	chr12:104012455-104012456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144674576	chr12:104012481-104012482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572525439	chr12:104012486-104012487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151287338	chr12:104012498-104012499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140546807	chr12:104012551-104012552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532389219	chr12:104012566-104012567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567747146	chr12:104012587-104012588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Acute lymphoblastic leukemia	21339820	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104011400-104011600	Enhancers	Spleen	Spleen
2	chr12:104011600-104020800	Weak transcription	Spleen	Spleen
3	chr12:104014000-104014200	Weak transcription	Pancreas	Pancrea
4	chr12:104014200-104014400	Enhancers	Pancreas	Pancrea
5	chr12:104015400-104015600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:104015800-104017200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:104016000-104022200	Weak transcription	Right Atrium	heart
8	chr12:104017200-104018000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:104017200-104018000	Enhancers	Colon Smooth Muscle	Colon
10	chr12:104018000-104020400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:104020000-104021200	Enhancers	HSMM	muscle
12	chr12:104020000-104021600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:104020200-104021000	Enhancers	A549	lung
14	chr12:104020200-104021400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:104020200-104021600	Enhancers	Rectal Smooth Muscle	rectum
16	chr12:104020200-104021600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:104020200-104021600	Enhancers	HSMMtube	muscle
18	chr12:104020200-104022200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:104020400-104020800	Enhancers	Gastric	stomach
20	chr12:104020400-104021200	Enhancers	Right Ventricle	heart
21	chr12:104020400-104022200	Enhancers	Fetal Heart	heart
22	chr12:104020400-104022400	Enhancers	Colon Smooth Muscle	Colon
23	chr12:104020600-104021400	Enhancers	Esophagus	oesophagus
24	chr12:104020600-104021400	Enhancers	Left Ventricle	heart
25	chr12:104020600-104021400	Enhancers	Pancreas	Pancrea
26	chr12:104020600-104021600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr12:104020600-104021600	Enhancers	Aorta	Aorta
28	chr12:104020600-104021600	Enhancers	Fetal Brain Female	brain
29	chr12:104020600-104021800	Enhancers	Fetal Muscle Leg	muscle
30	chr12:104020800-104021400	Enhancers	Spleen	Spleen
31	chr12:104020800-104021600	Enhancers	Psoas Muscle	Psoas
32	chr12:104021200-104023600	Enhancers	NHEK	skin
33	chr12:104021400-104022000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:104021400-104025600	Weak transcription	Spleen	Spleen
35	chr12:104021800-104022200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:104021800-104022600	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:104022000-104022200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:104022000-104022400	Enhancers	GM12878-XiMat	blood
39	chr12:104022000-104023000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:104022200-104022400	Enhancers	Right Atrium	heart
41	chr12:104022200-104023200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:104022600-104023400	Enhancers	Fetal Muscle Leg	muscle
43	chr12:104023000-104023600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:104023000-104023600	Enhancers	HUVEC	blood vessel
45	chr12:104023200-104023400	Enhancers	Rectal Smooth Muscle	rectum
46	chr12:104023200-104023600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:104023200-104024000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:104023600-104033800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:104024000-104026800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:104026400-104026600	ZNF genes & repeats	Spleen	Spleen

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