Variant report

Variant	nsv976738
Chromosome Location	chr12:11185657-11191941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:11186566-11186883	GM12878	blood:	n/a	n/a
2	BATF	chr12:11186631-11186911	GM12878	blood:	n/a	n/a
3	BCL11A	chr12:11186584-11186913	GM12878	blood:	n/a	n/a
4	CTCF	chr12:11187719-11187757	GM13976	blood:	n/a	n/a
5	CTCF	chr12:11186759-11186855	Spleen_OC	spleen:	n/a	n/a
6	IRF4	chr12:11186495-11186995	GM12878	blood:	n/a	n/a
7	IRF4	chr12:11186643-11186949	GM12878	blood:	n/a	n/a
8	NFIC	chr12:11186570-11186989	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:11187265-11187440	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:11187219-11187462	ProgFib	skin:	n/a	n/a
11	POLR2A	chr12:11186664-11186723	MCF-7	breast:	n/a	n/a
12	POLR2A	chr12:11188417-11188522	K562	blood:	n/a	n/a
13	SPI1	chr12:11186550-11186878	GM12891	blood:	n/a	n/a
14	SPI1	chr12:11186621-11186976	GM12891	blood:	n/a	n/a
15	SPI1	chr12:11186591-11186913	GM12878	blood:	n/a	n/a
16	TCF3	chr12:11186652-11186830	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRH1-1	chr12:11187381-11187484	NONHSAT026912
2	lnc-PRH1-1	chr12:11187381-11187484	NR_037918

No data

Variant related genes	Relation type
TAS2R31	TF binding region
ENSG00000268301	TF binding region

Extended variants
information (count: 367 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542794072	chr12:11185721-11185722	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143770328	chr12:11185727-11185728	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186554828	chr12:11185728-11185729	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527862078	chr12:11185752-11185753	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547612165	chr12:11185776-11185777	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570805518	chr12:11185782-11185783	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10845297	chr12:11185803-11185804	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs550210474	chr12:11185832-11185833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201121534	chr12:11185858-11185859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570005851	chr12:11185863-11185864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61253965	chr12:11185892-11185893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150059096	chr12:11185898-11185899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566207881	chr12:11185938-11185939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190971393	chr12:11185944-11185945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529897962	chr12:11185945-11185946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372542378	chr12:11185965-11185966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150879583	chr12:11185966-11185967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549495635	chr12:11186000-11186001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375909734	chr12:11186005-11186006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376476572	chr12:11186013-11186014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183777522	chr12:11186018-11186019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145433590	chr12:11186076-11186077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149132645	chr12:11186118-11186119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188458123	chr12:11186153-11186154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138777885	chr12:11186158-11186159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531334949	chr12:11186169-11186170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543182915	chr12:11186170-11186171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556728144	chr12:11186202-11186203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372293838	chr12:11186209-11186210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370872651	chr12:11186252-11186253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576569815	chr12:11186316-11186317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545437906	chr12:11186339-11186340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117105329	chr12:11186343-11186344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572312171	chr12:11186369-11186370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541017475	chr12:11186391-11186392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561216935	chr12:11186470-11186471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577119032	chr12:11186471-11186472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549532462	chr12:11186515-11186516	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs12822049	chr12:11186528-11186529	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs12814967	chr12:11186536-11186537	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs76590938	chr12:11186541-11186542	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs34499376	chr12:11186561-11186562	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
43	rs34830786	chr12:11186566-11186567	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
44	rs567931983	chr12:11186583-11186584	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs34532250	chr12:11186594-11186595	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
46	rs35804718	chr12:11186597-11186598	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
47	rs34453917	chr12:11186617-11186618	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
48	rs34977274	chr12:11186621-11186622	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
49	rs35015907	chr12:11186641-11186642	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
50	rs377111298	chr12:11186654-11186655	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20729466	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
3	chr12:11166000-11192000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11166200-11210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:11166600-11199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:11167400-11201800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:11168800-11201000	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:11168800-11205800	Weak transcription	Osteobl	bone
9	chr12:11169400-11201600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:11169400-11219400	Weak transcription	HUVEC	blood vessel
11	chr12:11169800-11198800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:11171000-11225600	Weak transcription	HSMMtube	muscle
13	chr12:11174400-11200800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:11174600-11192000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:11175000-11204600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:11176400-11203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:11176400-11211200	Weak transcription	Aorta	Aorta
18	chr12:11177000-11200200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:11177400-11187000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:11178400-11201000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:11178400-11201000	Weak transcription	Brain Anterior Caudate	brain
22	chr12:11178400-11203400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:11178600-11191400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:11178800-11197400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:11179000-11190000	Weak transcription	Fetal Brain Female	brain
26	chr12:11179000-11191400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:11179000-11195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:11179000-11198200	Weak transcription	Placenta	Placenta
29	chr12:11179000-11201000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:11179000-11203400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:11179000-11223800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:11179200-11190800	Weak transcription	Fetal Lung	lung
33	chr12:11179200-11203200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:11179400-11222000	Weak transcription	Fetal Kidney	kidney
35	chr12:11180200-11203200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:11180600-11191800	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:11180600-11202600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:11181000-11190800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:11181000-11196200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:11181000-11196800	Weak transcription	Adipose Nuclei	Adipose
41	chr12:11181000-11197000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:11181000-11197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:11181000-11197400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:11181000-11198800	Weak transcription	HepG2	liver
45	chr12:11181000-11199000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:11181000-11201000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:11181000-11201000	Weak transcription	Left Ventricle	heart
48	chr12:11181000-11201000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:11181000-11202800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:11181000-11203400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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