Variant report

Variant	nsv437751
Chromosome Location	chr12:42586641-42599122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:42586552-42586824	K562	blood:	n/a	n/a
2	CEBPB	chr12:42592506-42592716	A549	lung:	n/a	n/a
3	CUX1	chr12:42589023-42589084	GM12878	blood:	n/a	n/a
4	FOS	chr12:42596663-42596799	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:42596548-42596795	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:42596548-42596859	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:42596551-42596859	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA3	chr12:42592394-42592543	SH-SY5Y	brain:	n/a	n/a
9	JUN	chr12:42589343-42589551	HepG2	liver:	n/a	n/a
10	JUND	chr12:42589296-42589588	HepG2	liver:	n/a	chr12:42589414-42589425
11	MAX	chr12:42590941-42591142	K562	blood:	n/a	chr12:42591024-42591033 chr12:42591023-42591034 chr12:42591023-42591034 chr12:42591023-42591033 chr12:42591025-42591032 chr12:42591024-42591033
12	MAZ	chr12:42588763-42588768	HepG2	liver:	n/a	n/a
13	NR2F2	chr12:42596596-42596875	MCF-7	breast:	n/a	n/a
14	POLR2A	chr12:42597941-42598019	K562	blood:	n/a	n/a
15	POLR2A	chr12:42598500-42598526	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:42589103-42589303	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr12:42598531-42598591	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:42592094-42592201	MCF-7	breast:	n/a	n/a
19	STAT3	chr12:42596721-42596744	MCF10A-Er-Src	breast:	n/a	n/a
20	TAL1	chr12:42586661-42586827	K562	blood:	n/a	n/a
21	TBL1XR1	chr12:42593976-42593985	GM12878	blood:	n/a	n/a
22	ZNF384	chr12:42598739-42598975	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42586733..42589721-chr12:42593735..42596907,3	MCF-7	breast:
2	chr12:42559136..42560641-chr12:42595812..42598581,2	MCF-7	breast:
3	chr12:42591218..42593294-chr12:42596615..42598964,2	K562	blood:
4	chr12:42586733..42589721-chr12:42593735..42596907,3	MCF-7	breast:
5	chr12:42597838..42599534-chr12:42630169..42632429,2	MCF-7	breast:
6	chr12:42595134..42595826-chr12:42630960..42631860,2	MCF-7	breast:
7	chr12:42586906..42588789-chr12:42631235..42632945,2	MCF-7	breast:
8	chr12:42591218..42593294-chr12:42596615..42598964,2	K562	blood:
9	chr12:42584441..42587115-chr12:42588647..42591511,2	MCF-7	breast:
10	chr12:42584441..42587115-chr12:42588647..42591511,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GXYLT1-4	chr12:42592938-42593346	NONHSAT027765

No data

Variant related genes	Relation type
YAF2	TF binding region
ENSG00000015153	chromatin interactions
ENSG00000134283	chromatin interactions

Extended variants
information (count: 445 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1234113	chr12:42586641-42586642	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189994096	chr12:42586645-42586646	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs560194989	chr12:42586705-42586706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs527252469	chr12:42586707-42586708	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552919990	chr12:42586769-42586770	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs114466833	chr12:42586834-42586835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573706793	chr12:42586838-42586839	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544402482	chr12:42586860-42586861	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562206454	chr12:42586881-42586882	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111748211	chr12:42586882-42586883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562874987	chr12:42586883-42586884	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550396765	chr12:42586885-42586886	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184882746	chr12:42586886-42586887	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535561356	chr12:42586895-42586896	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547440146	chr12:42586903-42586904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7137140	chr12:42586910-42586911	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539411381	chr12:42586969-42586970	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs71453337	chr12:42587009-42587010	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7306048	chr12:42587015-42587016	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537742659	chr12:42587020-42587021	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12049942	chr12:42587052-42587053	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs372107497	chr12:42587057-42587058	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs144060115	chr12:42587073-42587074	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375471984	chr12:42587095-42587096	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78514668	chr12:42587120-42587121	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs35020261	chr12:42587121-42587122	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553868910	chr12:42587153-42587154	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572155618	chr12:42587195-42587196	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs545812581	chr12:42587234-42587235	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs563923801	chr12:42587314-42587315	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532070729	chr12:42587333-42587334	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543715342	chr12:42587341-42587342	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs369508538	chr12:42587343-42587344	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs188232713	chr12:42587396-42587397	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs77484967	chr12:42587411-42587412	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs77343264	chr12:42587430-42587431	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs146482342	chr12:42587434-42587435	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs149096959	chr12:42587458-42587459	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs2100547	chr12:42587489-42587490	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs533228924	chr12:42587498-42587499	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs551797187	chr12:42587514-42587515	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs2639125	chr12:42587534-42587535	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181778254	chr12:42587558-42587559	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs556159844	chr12:42587628-42587629	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs74428333	chr12:42587691-42587692	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186413024	chr12:42587742-42587743	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs190420974	chr12:42587764-42587765	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553987411	chr12:42587790-42587791	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs142220463	chr12:42587795-42587796	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs545571775	chr12:42587807-42587808	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42539800-42607800	Weak transcription	Pancreas	Pancrea
2	chr12:42547800-42610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:42550600-42615800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:42552000-42604000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:42552200-42591200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:42552200-42613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:42552400-42620000	Weak transcription	Fetal Brain Female	brain
8	chr12:42553600-42590000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:42554000-42607600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:42554600-42592200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:42555200-42590000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:42555400-42598000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:42556800-42613200	Weak transcription	HMEC	breast
15	chr12:42557000-42604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:42557200-42606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:42558000-42602400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:42563200-42608000	Weak transcription	Small Intestine	intestine
19	chr12:42565400-42587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:42566000-42588600	Weak transcription	Placenta	Placenta
21	chr12:42568400-42623400	Weak transcription	K562	blood
22	chr12:42568600-42607800	Weak transcription	Right Ventricle	heart
23	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
25	chr12:42569800-42631000	Weak transcription	Gastric	stomach
26	chr12:42570800-42589400	Weak transcription	HSMMtube	muscle
27	chr12:42571400-42591200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:42571400-42597600	Weak transcription	Esophagus	oesophagus
29	chr12:42571600-42586800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:42571600-42602400	Weak transcription	HepG2	liver
31	chr12:42573000-42589400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:42573400-42587200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:42574800-42615600	Weak transcription	HUVEC	blood vessel
34	chr12:42575400-42591000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:42575600-42590000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:42575600-42607800	Weak transcription	Brain Angular Gyrus	brain
37	chr12:42575600-42628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:42575800-42607800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:42575800-42607800	Weak transcription	Brain Substantia Nigra	brain
40	chr12:42576000-42591800	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:42576200-42592400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:42576600-42607800	Weak transcription	Brain Anterior Caudate	brain
43	chr12:42578000-42606400	Weak transcription	Fetal Heart	heart
44	chr12:42578400-42591000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:42578800-42603600	Weak transcription	Brain Germinal Matrix	brain
46	chr12:42579000-42589600	Weak transcription	Left Ventricle	heart
47	chr12:42579000-42590600	Weak transcription	Psoas Muscle	Psoas
48	chr12:42579200-42590600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:42579200-42606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:42579400-42588200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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