Variant report

Variant	nsv1048942
Chromosome Location	chr12:117365506-117400588
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117369008..117371802-chr12:117372806..117375152,2	K562	blood:
2	chr12:117384024..117385524-chr12:117385938..117388865,2	K562	blood:
3	chr12:117369126..117371183-chr12:117378864..117381589,2	MCF-7	breast:
4	chr12:117174363..117175916-chr12:117381728..117384041,2	MCF-7	breast:
5	chr12:117348721..117350457-chr12:117364988..117367917,3	MCF-7	breast:
6	chr12:117375784..117377782-chr12:117384873..117386508,2	K562	blood:
7	chr12:117364974..117366703-chr12:117369746..117372327,2	MCF-7	breast:
8	chr12:117364974..117366703-chr12:117369746..117372327,2	MCF-7	breast:
9	chr12:117349929..117351804-chr12:117393764..117395801,2	MCF-7	breast:
10	chr12:117394664..117397390-chr12:117400472..117403185,2	K562	blood:
11	chr12:117395564..117397390-chr12:117400429..117403185,2	K562	blood:
12	chr12:117141046..117141628-chr12:117393409..117394036,2	MCF-7	breast:
13	chr12:117396665..117399645-chr12:117404294..117406013,2	K562	blood:
14	chr12:117313964..117316353-chr12:117381200..117383712,2	MCF-7	breast:
15	chr12:117397026..117399218-chr12:117481554..117483572,2	MCF-7	breast:
16	chr12:117383644..117386038-chr12:117390452..117392333,2	K562	blood:
17	chr12:117375784..117377782-chr12:117384873..117386508,2	K562	blood:
18	chr12:117359173..117361921-chr12:117365401..117367494,2	MCF-7	breast:
19	chr12:117140723..117141336-chr12:117393093..117394044,4	MCF-7	breast:
20	chr12:117369126..117371183-chr12:117378864..117381589,2	MCF-7	breast:
21	chr12:117373255..117375339-chr12:117377275..117379604,2	MCF-7	breast:
22	chr12:117383644..117386038-chr12:117390452..117392333,2	K562	blood:
23	chr12:117211010..117211823-chr12:117393204..117393940,3	MCF-7	breast:
24	chr12:117395564..117397390-chr12:117400429..117403185,2	K562	blood:
25	chr12:117369008..117371802-chr12:117372806..117375152,2	K562	blood:
26	chr12:117140689..117141224-chr12:117393532..117394138,2	K562	blood:
27	chr12:117394664..117397390-chr12:117400472..117403185,2	K562	blood:
28	chr12:117384024..117385524-chr12:117385938..117388865,2	K562	blood:
29	chr12:117371490..117373713-chr12:117436920..117439603,2	K562	blood:
30	chr12:117373255..117375339-chr12:117377275..117379604,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111412	chromatin interactions
ENSG00000174989	chromatin interactions
ENSG00000135116	chromatin interactions

Extended variants
information (count: 1249 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4767473	chr12:117365506-117365507	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376410085	chr12:117365520-117365521	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530388458	chr12:117365530-117365531	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180950846	chr12:117365540-117365541	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552123098	chr12:117365547-117365548	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558049004	chr12:117365564-117365565	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563863436	chr12:117365616-117365617	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184795693	chr12:117365643-117365644	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532754258	chr12:117365762-117365763	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs58622490	chr12:117365810-117365811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552850246	chr12:117365816-117365817	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566168828	chr12:117365819-117365820	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141082626	chr12:117365827-117365828	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147656905	chr12:117365842-117365843	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369352345	chr12:117365863-117365864	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373731829	chr12:117365868-117365869	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548541039	chr12:117365885-117365886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111466325	chr12:117365898-117365899	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187199390	chr12:117365923-117365924	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568775816	chr12:117365954-117365955	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs202056280	chr12:117365971-117365972	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142434867	chr12:117365980-117365981	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111490265	chr12:117365996-117365997	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569662860	chr12:117366000-117366001	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538439231	chr12:117366008-117366009	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558366896	chr12:117366136-117366137	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571788674	chr12:117366139-117366140	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146495575	chr12:117366203-117366204	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12317604	chr12:117366221-117366222	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191993150	chr12:117366289-117366290	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544045750	chr12:117366294-117366295	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184210867	chr12:117366296-117366297	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4238051	chr12:117366299-117366300	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs78324015	chr12:117366305-117366306	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534375554	chr12:117366320-117366321	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186747501	chr12:117366327-117366328	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528557312	chr12:117366328-117366329	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4767474	chr12:117366338-117366339	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs562068641	chr12:117366341-117366342	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577177420	chr12:117366347-117366348	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs151199248	chr12:117366364-117366365	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs17501253	chr12:117366394-117366395	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569601102	chr12:117366398-117366399	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs117866878	chr12:117366469-117366470	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190750548	chr12:117366476-117366477	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs16947122	chr12:117366531-117366532	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs374379928	chr12:117366592-117366593	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182624196	chr12:117366597-117366598	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187239495	chr12:117366600-117366601	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377641661	chr12:117366601-117366602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:1362 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:117350000-117366000	Weak transcription	Fetal Lung	lung
7	chr12:117350200-117366000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:117350200-117366000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:117350200-117366800	Weak transcription	Spleen	Spleen
10	chr12:117350200-117367800	Weak transcription	Brain Germinal Matrix	brain
11	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
12	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
13	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
14	chr12:117357000-117365800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:117357200-117365600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:117357200-117367600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:117357800-117367600	Weak transcription	Fetal Heart	heart
18	chr12:117358000-117366000	Weak transcription	Liver	Liver
19	chr12:117358400-117365600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:117358400-117366000	Weak transcription	Fetal Intestine Large	intestine
21	chr12:117358400-117366000	Weak transcription	Fetal Kidney	kidney
22	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
23	chr12:117358600-117366000	Weak transcription	Fetal Intestine Small	intestine
24	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
25	chr12:117359200-117367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:117359400-117366000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:117362400-117365600	Enhancers	Colon Smooth Muscle	Colon
28	chr12:117362800-117365600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:117362800-117366000	Weak transcription	Hela-S3	cervix
30	chr12:117363000-117365600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr12:117363000-117367400	Weak transcription	HepG2	liver
32	chr12:117363200-117365600	Weak transcription	NHDF-Ad	bronchial
33	chr12:117363200-117365800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:117363200-117366000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:117363200-117366000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:117363200-117366000	Weak transcription	Fetal Thymus	thymus
37	chr12:117363200-117366000	Weak transcription	Gastric	stomach
38	chr12:117363200-117366000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:117363200-117366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:117363200-117366000	Weak transcription	A549	lung
41	chr12:117363200-117366000	Weak transcription	HSMMtube	muscle
42	chr12:117363200-117371200	Weak transcription	Stomach Mucosa	stomach
43	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:117363400-117365800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:117363400-117365800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:117363400-117366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:117363400-117366000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:117363400-117366000	Weak transcription	K562	blood
49	chr12:117363400-117366000	Weak transcription	NH-A	brain
50	chr12:117363400-117366000	Weak transcription	NHLF	lung

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