Variant report

Variant	esv3441390
Chromosome Location	chr12:48364560-48366783
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:48363983..48366127-chr12:48370745..48372999,2	MCF-7	breast:
2	chr12:48366493..48369414-chr12:48372046..48373592,2	K562	blood:
3	chr12:48360838..48363620-chr12:48364578..48367184,3	K562	blood:
4	chr12:48362502..48365466-chr12:48366201..48368271,2	K562	blood:
5	chr12:48362502..48365466-chr12:48366201..48368271,2	K562	blood:
6	chr12:48362584..48365917-chr12:48368904..48372045,3	K562	blood:
7	chr12:48356653..48359359-chr12:48363444..48365828,3	MCF-7	breast:
8	chr12:48365132..48368005-chr12:48368353..48370036,2	K562	blood:
9	chr12:48356037..48360072-chr12:48360475..48364952,9	K562	blood:
10	chr12:48298891..48301417-chr12:48363482..48365531,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134291	chromatin interactions
ENSG00000139219	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370008177	chr12:48364635-48364636	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182019535	chr12:48364652-48364653	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536590142	chr12:48364655-48364656	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371093254	chr12:48364669-48364670	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546901356	chr12:48364698-48364699	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73297131	chr12:48364712-48364713	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538610263	chr12:48364753-48364754	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558699782	chr12:48364782-48364783	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs4760606	chr12:48364799-48364800	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538056416	chr12:48364839-48364840	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs79006108	chr12:48364850-48364851	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs34829929	chr12:48364881-48364882	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs117600291	chr12:48364895-48364896	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76519927	chr12:48364896-48364897	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571919339	chr12:48364897-48364898	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538916927	chr12:48364906-48364907	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554018428	chr12:48364907-48364908	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs141765632	chr12:48364912-48364913	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545754184	chr12:48365081-48365082	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs150585875	chr12:48365108-48365109	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531881456	chr12:48365110-48365111	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541948691	chr12:48365117-48365118	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572290120	chr12:48365129-48365130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111589445	chr12:48365133-48365134	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139592728	chr12:48365153-48365154	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs149713028	chr12:48365156-48365157	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs12426835	chr12:48365184-48365185	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554642661	chr12:48365241-48365242	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs4760607	chr12:48365265-48365266	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183620025	chr12:48365313-48365314	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532153546	chr12:48365325-48365326	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564207472	chr12:48365364-48365365	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs146342110	chr12:48365437-48365438	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs568755016	chr12:48365441-48365442	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs528204524	chr12:48365443-48365444	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540210760	chr12:48365471-48365472	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201488309	chr12:48365488-48365489	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529517510	chr12:48365523-48365524	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550867463	chr12:48365534-48365535	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569069322	chr12:48365545-48365546	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs34584407	chr12:48365571-48365572	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs57538857	chr12:48365575-48365576	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533562312	chr12:48365577-48365578	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs55667634	chr12:48365596-48365597	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs199868079	chr12:48365602-48365603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566935138	chr12:48365605-48365606	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56386487	chr12:48365607-48365608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs549362728	chr12:48365616-48365617	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs537984779	chr12:48365621-48365622	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs142586218	chr12:48365626-48365627	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48358200-48366200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:48358200-48366200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48358400-48364600	Weak transcription	Ovary	ovary
4	chr12:48358400-48365000	Weak transcription	Osteobl	bone
5	chr12:48358400-48365200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:48358400-48366400	Weak transcription	Fetal Brain Male	brain
7	chr12:48358400-48367800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:48358400-48367800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:48358400-48369800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:48358400-48373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:48358600-48365200	Weak transcription	HSMMtube	muscle
12	chr12:48358600-48366600	Weak transcription	Fetal Lung	lung
13	chr12:48358600-48369400	Weak transcription	Fetal Kidney	kidney
14	chr12:48358600-48381400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:48358800-48366000	Weak transcription	HepG2	liver
16	chr12:48358800-48366200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:48359200-48364600	Strong transcription	Placenta	Placenta
18	chr12:48359200-48364800	Strong transcription	Primary T cells from cord blood	blood
19	chr12:48359200-48384000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:48359600-48366600	Strong transcription	Thymus	Thymus
21	chr12:48360000-48364600	Weak transcription	Right Ventricle	heart
22	chr12:48360000-48366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:48360000-48368200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:48360200-48369600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:48360400-48364600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:48361000-48364600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:48361200-48365000	Weak transcription	HUVEC	blood vessel
28	chr12:48361400-48364800	Weak transcription	Right Atrium	heart
29	chr12:48361800-48365000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:48361800-48365000	Weak transcription	K562	blood
31	chr12:48361800-48366200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:48362200-48364600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:48362200-48364800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:48362200-48365200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:48362200-48366000	Weak transcription	Colonic Mucosa	Colon
36	chr12:48362200-48368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:48362400-48370600	Weak transcription	HMEC	breast
38	chr12:48362400-48370800	Weak transcription	NHEK	skin
39	chr12:48362600-48364800	Weak transcription	GM12878-XiMat	blood
40	chr12:48362600-48365800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:48362600-48367200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:48362800-48366000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:48362800-48366200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:48362800-48367600	Weak transcription	Small Intestine	intestine
45	chr12:48362800-48368000	Weak transcription	Fetal Brain Female	brain
46	chr12:48363000-48364800	Weak transcription	A549	lung
47	chr12:48363000-48365200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:48363000-48365200	Enhancers	Fetal Heart	heart
49	chr12:48363000-48365800	Weak transcription	Lung	lung
50	chr12:48363000-48367000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links