Variant report

Variant	nsv442255
Chromosome Location	chr12:9862078-9874924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9853903..9855741-chr12:9860997..9863949,2	MCF-7	breast:
2	chr12:9798330..9801052-chr12:9860989..9864813,3	K562	blood:
3	chr12:9870894..9872831-chr12:9873111..9875756,2	MCF-7	breast:
4	chr12:9824506..9827100-chr12:9861527..9863862,2	K562	blood:

Variant related genes	Relation type
ENSG00000256594	chromatin interactions
ENSG00000069493	chromatin interactions
ENSG00000256442	chromatin interactions
ENSG00000184293	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10772060	chr12:9862082-9862083	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192578244	chr12:9862103-9862104	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs374016082	chr12:9862113-9862114	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs10844537	chr12:9862124-9862125	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs59112803	chr12:9862154-9862155	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117646836	chr12:9862203-9862204	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs116716522	chr12:9862254-9862255	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs372057055	chr12:9862325-9862326	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs112666283	chr12:9862328-9862329	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs111396735	chr12:9862332-9862333	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs4763813	chr12:9862336-9862337	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs4763814	chr12:9862384-9862385	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149334315	chr12:9862413-9862414	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs372877166	chr12:9862460-9862461	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs11052604	chr12:9862548-9862549	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549600348	chr12:9862623-9862624	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs368976005	chr12:9862700-9862701	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs374886008	chr12:9862784-9862785	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs78681301	chr12:9862932-9862933	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs386760204	chr12:9862969-9862970	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs2080208	chr12:9862970-9862971	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2080207	chr12:9863150-9863151	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs115555213	chr12:9863151-9863152	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs184565130	chr12:9863289-9863290	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs188412321	chr12:9863391-9863392	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs193017402	chr12:9863487-9863488	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs148040840	chr12:9863519-9863520	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs373192553	chr12:9863557-9863558	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs185151316	chr12:9863558-9863559	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs2192440	chr12:9863574-9863575	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190002278	chr12:9863588-9863589	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs376865871	chr12:9863636-9863637	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs141725969	chr12:9863656-9863657	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs181207521	chr12:9863677-9863678	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs183898667	chr12:9863752-9863753	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs188176411	chr12:9863825-9863826	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs34920118	chr12:9863828-9863829	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs35131234	chr12:9863836-9863837	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs369355919	chr12:9863917-9863918	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181972145	chr12:9863965-9863966	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187231483	chr12:9863966-9863967	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs1861089	chr12:9863968-9863969	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs150553126	chr12:9864015-9864016	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376343119	chr12:9864053-9864054	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371774567	chr12:9864093-9864094	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs372247979	chr12:9864109-9864110	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530643236	chr12:9864121-9864122	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552070881	chr12:9864122-9864123	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191603905	chr12:9864148-9864149	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182191535	chr12:9864219-9864220	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	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
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9840600-9864600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:9841800-9863200	Weak transcription	HSMMtube	muscle
3	chr12:9855600-9862800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:9858000-9872200	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:9859000-9870200	Enhancers	Primary B cells from cord blood	blood
6	chr12:9860800-9863000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:9860800-9863200	Weak transcription	Spleen	Spleen
8	chr12:9860800-9864400	Weak transcription	A549	lung
9	chr12:9861000-9862400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:9861000-9863000	Weak transcription	Placenta	Placenta
11	chr12:9861000-9873200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:9861000-9874200	Weak transcription	Fetal Thymus	thymus
13	chr12:9861400-9862600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:9861400-9862800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:9861400-9864400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:9861400-9864600	Weak transcription	Primary T cells from cord blood	blood
17	chr12:9861600-9863000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:9861600-9882400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:9861800-9868200	Enhancers	GM12878-XiMat	blood
20	chr12:9861800-9874000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:9862400-9862600	Enhancers	Fetal Heart	heart
22	chr12:9862600-9863400	Weak transcription	Fetal Heart	heart
23	chr12:9862800-9863000	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:9862800-9863000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:9862800-9863000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:9863000-9863400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:9863000-9863800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:9863000-9864000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:9863000-9864000	Enhancers	Placenta	Placenta
30	chr12:9863000-9864600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:9863200-9863400	Enhancers	Left Ventricle	heart
32	chr12:9863200-9863400	Enhancers	Pancreas	Pancrea
33	chr12:9863200-9863800	Enhancers	Spleen	Spleen
34	chr12:9863200-9864800	Enhancers	HSMMtube	muscle
35	chr12:9863400-9863600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:9863400-9864800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:9863400-9864800	Enhancers	Fetal Heart	heart
38	chr12:9863600-9863800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:9863600-9864600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:9863800-9864000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:9863800-9864600	Enhancers	HSMM	muscle
42	chr12:9863800-9864800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:9864000-9865000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:9864000-9873600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:9864200-9864600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:9864200-9864800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:9864400-9864800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr12:9864400-9864800	Enhancers	A549	lung
49	chr12:9864600-9864800	Enhancers	Primary T cells from cord blood	blood
50	chr12:9864600-9864800	Enhancers	Placenta Amnion	Placenta Amnion

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