Variant report

Variant	nsv899580
Chromosome Location	chr12:124499542-124565258
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:50)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:124456489..124458917-chr12:124504265..124505927,2	MCF-7	breast:
2	chr12:124510880..124513172-chr12:125217385..125219889,2	K562	blood:
3	chr12:124528285..124530233-chr12:125227892..125229575,2	K562	blood:
4	chr12:124516657..124517505-chr12:125251258..125252137,2	K562	blood:
5	chr12:124456427..124458717-chr12:124514754..124517707,2	MCF-7	breast:
6	chr12:124547553..124549096-chr12:124550673..124553525,2	K562	blood:
7	chr12:124501268..124502208-chr12:124516558..124517086,2	MCF-7	breast:
8	chr12:124521403..124524267-chr12:124525172..124528946,3	K562	blood:
9	chr12:124524796..124526483-chr12:124529562..124531770,2	K562	blood:
10	chr12:124196789..124198496-chr12:124499802..124501638,2	MCF-7	breast:
11	chr12:124456629..124458465-chr12:124502336..124504117,3	K562	blood:
12	chr12:124538115..124539228-chr12:124805608..124806447,3	MCF-7	breast:
13	chr12:124521188..124521824-chr12:124806682..124807336,2	MCF-7	breast:
14	chr12:124524983..124527223-chr12:124529562..124531157,2	K562	blood:
15	chr12:124538545..124539048-chr12:125251248..125252176,2	K562	blood:
16	chr12:124492436..124495836-chr12:124497804..124500865,3	K562	blood:
17	chr12:124528224..124529883-chr12:124531757..124534004,2	MCF-7	breast:
18	chr12:124528224..124529883-chr12:124531757..124534004,2	MCF-7	breast:
19	chr12:124389600..124390517-chr12:124516534..124517510,2	K562	blood:
20	chr12:124285925..124286799-chr12:124516900..124517700,4	MCF-7	breast:
21	chr11:9384097..9385753-chr12:124509844..124511367,2	MCF-7	breast:
22	chr12:124522354..124525198-chr12:124549022..124551115,2	MCF-7	breast:
23	chr12:124520936..124521747-chr12:125251229..125251813,3	MCF-7	breast:
24	chr12:124501268..124502208-chr12:124516558..124517086,2	MCF-7	breast:
25	chr12:124521213..124521765-chr12:125256137..125257066,3	MCF-7	breast:
26	chr12:124521210..124521753-chr12:124805186..124806176,2	MCF-7	breast:
27	chr12:124520612..124521329-chr12:125248666..125249398,2	MCF-7	breast:
28	chr12:124294281..124295830-chr12:124516954..124519275,2	MCF-7	breast:
29	chr12:124524983..124527223-chr12:124529562..124531157,2	K562	blood:
30	chr12:124520469..124523389-chr12:124526504..124528787,2	MCF-7	breast:
31	chr12:124526142..124528216-chr12:125237039..125239742,2	MCF-7	breast:
32	chr12:124524796..124526483-chr12:124529562..124531770,2	K562	blood:
33	chr12:124493164..124494909-chr12:124500524..124502478,2	MCF-7	breast:
34	chr12:124528313..124529938-chr12:124541033..124543445,2	MCF-7	breast:
35	chr12:124528313..124529938-chr12:124541033..124543445,2	MCF-7	breast:
36	chr12:124456377..124458742-chr12:124511171..124513231,2	K562	blood:
37	chr12:124517304..124517818-chr12:124805690..124806229,2	MCF-7	breast:
38	chr12:124520800..124522244-chr12:125251340..125252221,6	K562	blood:
39	chr12:124519084..124525003-chr12:124802273..124805989,6	MCF-7	breast:
40	chr12:124547212..124549096-chr12:124550673..124553525,3	K562	blood:
41	chr12:124520849..124521804-chr12:124805210..124806257,7	K562	blood:
42	chr12:124521403..124524267-chr12:124525172..124528946,3	K562	blood:
43	chr12:124509520..124510021-chr17:8059833..8060485,2	HCT-116	colon:
44	chr12:124547212..124549096-chr12:124550673..124553525,3	K562	blood:
45	chr12:124547553..124549096-chr12:124550673..124553525,2	K562	blood:
46	chr12:124456629..124458384-chr12:124502336..124503961,2	K562	blood:
47	chr12:124520858..124521915-chr12:124805284..124806191,5	MCF-7	breast:
48	chr12:124563279..124565745-chr12:124567751..124569613,2	K562	blood:
49	chr12:124520469..124523389-chr12:124526504..124528787,2	MCF-7	breast:
50	chr12:124522354..124525198-chr12:124549022..124551115,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF664-1	chr12:124559470-124559839	XLOC_009925
2	lnc-ZNF664-1	chr12:124558542-124558567	XLOC_009925

No data

Variant related genes	Relation type
ENSG00000178882	chromatin interactions
ENSG00000185344	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000119242	chromatin interactions

Extended variants
information (count: 2292 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2292 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1048497	chr12:124499542-124499543	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs76694118	chr12:124499584-124499585	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537019827	chr12:124499652-124499653	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538038289	chr12:124499716-124499717	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75735142	chr12:124499743-124499744	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568432743	chr12:124499774-124499775	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535858405	chr12:124499811-124499812	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs3768	chr12:124499839-124499840	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs3767	chr12:124499882-124499883	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs77889015	chr12:124499961-124499962	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577145128	chr12:124499989-124499990	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544057131	chr12:124500046-124500047	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs180939055	chr12:124500060-124500061	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185514765	chr12:124500069-124500070	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138712703	chr12:124500080-124500081	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188757754	chr12:124500141-124500142	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs707335	chr12:124500159-124500160	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142732150	chr12:124500191-124500192	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573306753	chr12:124500210-124500211	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548587412	chr12:124500228-124500229	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536728286	chr12:124500248-124500249	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531953978	chr12:124500372-124500373	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147384009	chr12:124500375-124500376	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139615950	chr12:124500423-124500424	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374524409	chr12:124500454-124500455	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537242098	chr12:124500455-124500456	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535532834	chr12:124500460-124500461	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368940571	chr12:124500475-124500476	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558654654	chr12:124500490-124500491	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554305634	chr12:124500501-124500502	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566120023	chr12:124500531-124500532	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372279930	chr12:124500545-124500546	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539828573	chr12:124500546-124500547	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558920518	chr12:124500551-124500552	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142621586	chr12:124500561-124500562	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544413611	chr12:124500562-124500563	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544353460	chr12:124500588-124500589	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374206863	chr12:124500619-124500620	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560707531	chr12:124500671-124500672	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368347637	chr12:124500673-124500674	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7301547	chr12:124500676-124500677	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs386767220	chr12:124500723-124500724	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534987855	chr12:124500724-124500725	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556992087	chr12:124500725-124500726	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540153589	chr12:124500746-124500747	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527315992	chr12:124500867-124500868	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371502129	chr12:124500870-124500871	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181549686	chr12:124500885-124500886	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531869412	chr12:124500890-124500891	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs150586486	chr12:124500909-124500910	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Developmental delay	19490664	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1046 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124490400-124500400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:124493000-124500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:124493000-124501400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:124493000-124501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:124493000-124503200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:124493200-124501200	Strong transcription	Fetal Stomach	stomach
8	chr12:124493400-124499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:124493600-124503200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:124493600-124505400	Weak transcription	Right Atrium	heart
11	chr12:124494200-124500600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:124494400-124500400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:124495000-124499600	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:124495000-124500000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:124495000-124500200	Strong transcription	HSMM	muscle
16	chr12:124495000-124500400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:124495000-124500600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:124495000-124500800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:124495200-124499600	Strong transcription	Brain Germinal Matrix	brain
20	chr12:124495200-124500200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:124495600-124500600	Strong transcription	Fetal Thymus	thymus
22	chr12:124496200-124500600	Strong transcription	Thymus	Thymus
23	chr12:124497400-124504600	Weak transcription	Small Intestine	intestine
24	chr12:124497400-124508800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:124497400-124509000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:124497800-124500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:124497800-124500000	Weak transcription	Aorta	Aorta
28	chr12:124497800-124500000	Weak transcription	Right Ventricle	heart
29	chr12:124497800-124502800	Weak transcription	Brain Substantia Nigra	brain
30	chr12:124497800-124502800	Weak transcription	NHDF-Ad	bronchial
31	chr12:124497800-124505400	Weak transcription	Ovary	ovary
32	chr12:124497800-124505400	Weak transcription	Pancreas	Pancrea
33	chr12:124497800-124506600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:124497800-124508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:124497800-124508800	Weak transcription	HMEC	breast
36	chr12:124497800-124508800	Weak transcription	NHEK	skin
37	chr12:124497800-124511000	Weak transcription	Psoas Muscle	Psoas
38	chr12:124497800-124511200	Weak transcription	Fetal Brain Male	brain
39	chr12:124497800-124511400	Weak transcription	Gastric	stomach
40	chr12:124497800-124511600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:124498000-124499600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:124498000-124499600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:124498000-124499600	Weak transcription	Colonic Mucosa	Colon
44	chr12:124498000-124499800	Weak transcription	GM12878-XiMat	blood
45	chr12:124498000-124500000	Weak transcription	NHLF	lung
46	chr12:124498000-124500800	Weak transcription	K562	blood
47	chr12:124498000-124501000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:124498000-124501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:124498000-124501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:124498000-124502000	Weak transcription	HepG2	liver

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