Variant report

Variant	nsv518743
Chromosome Location	chr12:48597507-48600520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:48595801-48598103	K562	blood:	n/a	n/a
2	POLR2A	chr12:48599021-48599116	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:48599110-48599208	K562	blood:	n/a	n/a
4	POLR2A	chr12:48597771-48597794	MCF-7	breast:	n/a	n/a
5	POLR2A	chr12:48598586-48598898	K562	blood:	n/a	n/a
6	RAD21	chr12:48597685-48597698	HepG2	liver:	n/a	n/a
7	SETDB1	chr12:48600186-48601125	U2OS	brain:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48598048-48598098	AG04450	lung:	fetal
2	chr12:48597881-48597931	HCT-116	colon:	n/a
3	chr12:48597881-48597931	HMEC	breast:	n/a
4	chr12:48597881-48597931	AG10803	skin:	n/a
5	chr12:48597758-48597808	MCF-7	breast:	n/a
6	chr12:48597758-48597808	HRE	kidney:	n/a
7	chr12:48597758-48597808	GM06990	blood:	n/a
8	chr12:48597881-48597931	HCF	heart:	n/a
9	chr12:48598048-48598098	RPTEC	kidney:	n/a
10	chr12:48597758-48597808	NB4	blood:	n/a
11	chr12:48597758-48597808	AG09309	skin:	n/a
12	chr12:48597758-48597808	NHBE	bronchial:	n/a
13	chr12:48597758-48597808	HAEpiC	amniotic membrane:	n/a
14	chr12:48597881-48597931	MCF10A-Er-Src	breast:	n/a
15	chr12:48598048-48598098	SKMC	muscle:	n/a
16	chr12:48597881-48597931	RPTEC	kidney:	n/a
17	chr12:48598048-48598098	NH-A	brain:	n/a
18	chr12:48597881-48597931	HRPEpiC	eye:	n/a
19	chr12:48598048-48598098	HCT-116	colon:	n/a
20	chr12:48597881-48597931	AoSMC	blood vessel:	n/a
21	chr12:48597758-48597808	U87	brain:	n/a
22	chr12:48597881-48597931	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:48597758-48597808	NH-A	brain:	n/a
24	chr12:48597881-48597931	AG04450	lung:	fetal
25	chr12:48597881-48597931	HEK293	kidney:	embryo
26	chr12:48597881-48597931	HCPEpiC	choroid plexus:	n/a
27	chr12:48597881-48597931	ovcar-3	ovarian:	n/a
28	chr12:48597881-48597931	AG04449	skin:	fetal
29	chr12:48598048-48598098	HRCEpiC	kidney:	n/a
30	chr12:48598048-48598098	GM06990	blood:	n/a
31	chr12:48597758-48597808	HL-60	blood:	n/a
32	chr12:48597881-48597931	HRE	kidney:	n/a
33	chr12:48598048-48598098	GM19239	blood:	n/a
34	chr12:48598048-48598098	A549	lung:	n/a
35	chr12:48597758-48597808	HEK293	kidney:	embryo
36	chr12:48597758-48597808	ProgFib	skin:	n/a
37	chr12:48597758-48597808	PrEC	prostate:	n/a
38	chr12:48597758-48597808	A549	lung:	n/a
39	chr12:48597758-48597808	LNCaP	prostate:	n/a
40	chr12:48597758-48597808	SK-N-SH_RA	brain:	n/a
41	chr12:48598048-48598098	GM12891	blood:	n/a
42	chr12:48597758-48597808	AG04450	lung:	fetal
43	chr12:48598048-48598098	LNCaP	prostate:	n/a
44	chr12:48597881-48597931	GM06990	blood:	n/a
45	chr12:48598048-48598098	HMEC	breast:	n/a
46	chr12:48597758-48597808	AG04449	skin:	fetal
47	chr12:48597881-48597931	HRCEpiC	kidney:	n/a
48	chr12:48598048-48598098	SK-N-SH	brain:	n/a
49	chr12:48597881-48597931	SK-N-MC	brain:	n/a
50	chr12:48597881-48597931	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48418539..48420191-chr12:48595608..48598283,2	K562	blood:
2	chr12:48597340..48600068-chr12:48604806..48607585,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR10AD1	TF binding region
OR10AD1	CpG island
ENSG00000257955	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10783235	chr12:48597507-48597508	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75215852	chr12:48597508-48597509	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs117473832	chr12:48597527-48597528	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545383691	chr12:48597536-48597537	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543006656	chr12:48597583-48597584	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144697174	chr12:48597605-48597606	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs1387258	chr12:48597650-48597651	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs34103803	chr12:48597704-48597705	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573642530	chr12:48597714-48597715	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76586124	chr12:48597776-48597777	Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs79722828	chr12:48597825-48597826	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
12	rs559962978	chr12:48597828-48597829	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138564697	chr12:48597849-48597850	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs73108003	chr12:48597856-48597857	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565536129	chr12:48597989-48597990	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77511358	chr12:48598049-48598050	Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
17	rs76548377	chr12:48598052-48598053	Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
18	rs567781397	chr12:48598137-48598138	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530117338	chr12:48598153-48598154	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76084901	chr12:48598201-48598202	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181310268	chr12:48598236-48598237	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549901953	chr12:48598263-48598264	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565555984	chr12:48598272-48598273	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534472169	chr12:48598284-48598285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183901563	chr12:48598324-48598325	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571450477	chr12:48598415-48598416	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370314018	chr12:48598418-48598419	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150305256	chr12:48598469-48598470	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571363663	chr12:48598479-48598480	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17823313	chr12:48598510-48598511	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs547371878	chr12:48598522-48598523	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188998738	chr12:48598533-48598534	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137904933	chr12:48598555-48598556	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7297824	chr12:48598650-48598651	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs114163028	chr12:48598662-48598663	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs149547663	chr12:48598688-48598689	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565618613	chr12:48598762-48598763	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs141405579	chr12:48598766-48598767	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs371742002	chr12:48598767-48598768	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs542063842	chr12:48598788-48598789	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs200902526	chr12:48598824-48598825	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs560315954	chr12:48598831-48598832	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs544638835	chr12:48598842-48598843	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561148928	chr12:48598848-48598849	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs112692896	chr12:48598868-48598869	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs143101400	chr12:48598877-48598878	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs374718676	chr12:48598878-48598879	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs79182082	chr12:48598885-48598886	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
49	rs7315820	chr12:48598938-48598939	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs528320102	chr12:48598977-48598978	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48592800-48600400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:48593200-48599000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:48593200-48600200	Weak transcription	Right Ventricle	heart
4	chr12:48593400-48600800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:48593800-48598400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:48593800-48598400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:48594000-48598400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:48594200-48598600	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:48594200-48598800	Weak transcription	Fetal Heart	heart
10	chr12:48594800-48599000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:48595000-48598400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:48595000-48598400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:48595200-48597600	Weak transcription	Brain Anterior Caudate	brain
14	chr12:48595200-48598600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:48595200-48598600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:48595200-48598800	Weak transcription	Fetal Lung	lung
17	chr12:48595200-48600400	Weak transcription	Psoas Muscle	Psoas
18	chr12:48595600-48609600	Weak transcription	Placenta	Placenta
19	chr12:48595800-48599600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:48595800-48600800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:48596000-48599600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:48596200-48598400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:48596600-48603800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:48596800-48598600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:48597000-48598600	Weak transcription	Brain Substantia Nigra	brain
26	chr12:48597000-48606600	Weak transcription	Left Ventricle	heart
27	chr12:48597000-48606800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:48597200-48598400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:48597200-48598600	Weak transcription	Gastric	stomach
30	chr12:48597200-48598600	Weak transcription	Ovary	ovary
31	chr12:48597600-48597800	ZNF genes & repeats	Brain Anterior Caudate	brain
32	chr12:48597800-48598200	Weak transcription	Brain Anterior Caudate	brain
33	chr12:48597800-48599200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr12:48598000-48599600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr12:48598200-48599200	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr12:48598400-48599000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:48598400-48599000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
38	chr12:48598400-48599200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr12:48598400-48599200	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr12:48598400-48599200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr12:48598400-48599400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr12:48598400-48599400	Strong transcription	Brain Cingulate Gyrus	brain
43	chr12:48598400-48599400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:48598400-48599400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:48598400-48599600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr12:48598400-48600200	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:48598600-48598800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:48598600-48598800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr12:48598600-48598800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr12:48598600-48598800	ZNF genes & repeats	Gastric	stomach

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