Variant report

Variant	nsv557583
Chromosome Location	chr12:12238317-12253591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12242492..12245826-chr12:12250715..12252862,3	MCF-7	breast:
2	chr12:12237772..12239926-chr12:12242513..12244512,2	K562	blood:
3	chr12:12237772..12239926-chr12:12242513..12244512,2	K562	blood:
4	chr12:12242492..12245826-chr12:12250715..12252862,3	MCF-7	breast:
5	chr12:12243605..12245833-chr12:12417112..12419056,2	MCF-7	breast:
6	chr12:12238838..12240368-chr12:12419597..12421163,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	chromatin interactions

Extended variants
information (count: 683 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:683 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10845474	chr12:12238317-12238318	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11054673	chr12:12238355-12238356	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565068412	chr12:12238397-12238398	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7959374	chr12:12238411-12238412	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs182107205	chr12:12238442-12238443	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150184759	chr12:12238451-12238452	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530061825	chr12:12238502-12238503	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572083653	chr12:12238540-12238541	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548541119	chr12:12238557-12238558	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566893153	chr12:12238564-12238565	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138741674	chr12:12238609-12238610	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552208277	chr12:12238613-12238614	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570721663	chr12:12238660-12238661	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538017085	chr12:12238686-12238687	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1641724	chr12:12238691-12238692	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7972500	chr12:12238698-12238699	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535900035	chr12:12238706-12238707	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7973469	chr12:12238769-12238770	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7959836	chr12:12238790-12238791	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540331860	chr12:12238814-12238815	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564931854	chr12:12238833-12238834	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560331309	chr12:12238834-12238835	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149371700	chr12:12238840-12238841	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544392945	chr12:12238917-12238918	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562799109	chr12:12238932-12238933	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529992610	chr12:12238977-12238978	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186139410	chr12:12239013-12239014	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1797653	chr12:12239033-12239034	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191007534	chr12:12239034-12239035	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7962856	chr12:12239050-12239051	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs3851594	chr12:12239113-12239114	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147074734	chr12:12239167-12239168	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549943810	chr12:12239170-12239171	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11054674	chr12:12239182-12239183	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183276937	chr12:12239206-12239207	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372213500	chr12:12239233-12239234	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568656015	chr12:12239240-12239241	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138820213	chr12:12239295-12239296	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566473320	chr12:12239317-12239318	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113683577	chr12:12239336-12239337	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558708107	chr12:12239368-12239369	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7311616	chr12:12239383-12239384	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142783504	chr12:12239390-12239391	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556320871	chr12:12239394-12239395	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192118622	chr12:12239402-12239403	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574500286	chr12:12239446-12239447	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7297820	chr12:12239468-12239469	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115504462	chr12:12239474-12239475	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7297825	chr12:12239478-12239479	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371905403	chr12:12239482-12239483	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	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 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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12225000-12255000	Weak transcription	Small Intestine	intestine
2	chr12:12225200-12239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:12225400-12239000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:12225400-12239600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:12225400-12239600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:12225600-12239000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:12225800-12240200	Weak transcription	Fetal Stomach	stomach
8	chr12:12226600-12245000	Weak transcription	Fetal Brain Male	brain
9	chr12:12229600-12238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:12230000-12238600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:12231000-12239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:12231400-12238600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:12231400-12239200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:12231600-12239200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:12232800-12240000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:12232800-12257000	Weak transcription	HSMMtube	muscle
17	chr12:12234800-12259600	Weak transcription	Aorta	Aorta
18	chr12:12235200-12242000	Weak transcription	NHLF	lung
19	chr12:12235400-12239400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:12235400-12239800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:12235400-12243600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:12235400-12244600	Weak transcription	Colonic Mucosa	Colon
23	chr12:12235400-12245000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:12235400-12245200	Weak transcription	Pancreas	Pancrea
25	chr12:12235400-12260200	Weak transcription	Gastric	stomach
26	chr12:12235400-12260800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:12235600-12240800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:12236400-12239200	Strong transcription	Fetal Intestine Small	intestine
30	chr12:12236400-12239400	Weak transcription	HepG2	liver
31	chr12:12236400-12240000	Weak transcription	Stomach Mucosa	stomach
32	chr12:12237000-12238800	Strong transcription	Fetal Intestine Large	intestine
33	chr12:12237200-12239600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:12237400-12259800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:12237600-12238600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:12238000-12245000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr12:12238200-12238400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr12:12238200-12240000	Genic enhancers	Rectal Mucosa Donor 31	rectum
39	chr12:12238400-12238600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:12238400-12240200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:12238400-12241000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr12:12238400-12241000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:12238600-12239200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:12238600-12239600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:12238600-12241200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr12:12238600-12241800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:12238600-12242000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:12238800-12240200	Weak transcription	Fetal Intestine Large	intestine
49	chr12:12239000-12240200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:12239000-12241200	Enhancers	H1 Cell Line	embryonic stem cell

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