Variant report

Variant	nsv976571
Chromosome Location	chr12:9868953-9873977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9870894..9872831-chr12:9873111..9875756,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184293	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78911514	chr12:9868966-9868967	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181224537	chr12:9868998-9868999	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185278516	chr12:9869059-9869060	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146149299	chr12:9869121-9869122	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117444760	chr12:9869170-9869171	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112840188	chr12:9869194-9869195	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386760205	chr12:9869208-9869209	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71457489	chr12:9869210-9869211	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2268146	chr12:9869271-9869272	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs74994405	chr12:9869322-9869323	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560807362	chr12:9869350-9869351	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374946546	chr12:9869409-9869410	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542779330	chr12:9869435-9869436	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529840571	chr12:9869484-9869485	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2268145	chr12:9869514-9869515	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs371210241	chr12:9869518-9869519	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71447599	chr12:9869561-9869562	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs190093501	chr12:9869613-9869614	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182333601	chr12:9869617-9869618	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142797707	chr12:9869638-9869639	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146974905	chr12:9869688-9869689	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11052653	chr12:9869719-9869720	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7961903	chr12:9869740-9869741	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs34277830	chr12:9869758-9869759	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs377056367	chr12:9869856-9869857	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs373449942	chr12:9869860-9869861	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs527962222	chr12:9869887-9869888	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs149576867	chr12:9869897-9869898	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs144240327	chr12:9869915-9869916	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs10772070	chr12:9869916-9869917	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs10772071	chr12:9869920-9869921	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs10772072	chr12:9869931-9869932	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11052658	chr12:9869953-9869954	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10772073	chr12:9870024-9870025	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148715459	chr12:9870025-9870026	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs377746536	chr12:9870141-9870142	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs142291873	chr12:9870234-9870235	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs10772074	chr12:9870282-9870283	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185888491	chr12:9870298-9870299	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs34248311	chr12:9870337-9870338	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs10844569	chr12:9870352-9870353	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs741200	chr12:9870415-9870416	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs367836746	chr12:9870474-9870475	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543757121	chr12:9870596-9870597	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs75226273	chr12:9870616-9870617	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560869854	chr12:9870624-9870625	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146386394	chr12:9870652-9870653	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7964917	chr12:9870704-9870705	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs574551319	chr12:9870775-9870776	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35651937	chr12:9870846-9870847	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9858000-9872200	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:9859000-9870200	Enhancers	Primary B cells from cord blood	blood
3	chr12:9861000-9873200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:9861000-9874200	Weak transcription	Fetal Thymus	thymus
5	chr12:9861600-9882400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:9861800-9874000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:9864000-9873600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:9864600-9883800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:9868200-9869800	Genic enhancers	GM12878-XiMat	blood
10	chr12:9868400-9872600	Weak transcription	HUVEC	blood vessel
11	chr12:9868600-9869200	Enhancers	K562	blood
12	chr12:9868600-9879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:9869200-9874200	Weak transcription	K562	blood
14	chr12:9869800-9870200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
15	chr12:9870200-9870600	Active TSS	GM12878-XiMat	blood
16	chr12:9870200-9871000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr12:9870600-9871800	Flanking Active TSS	GM12878-XiMat	blood
18	chr12:9870800-9871400	Weak transcription	A549	lung
19	chr12:9871000-9871400	Enhancers	Fetal Intestine Small	intestine
20	chr12:9871000-9874000	Enhancers	Primary B cells from cord blood	blood
21	chr12:9871400-9872000	Enhancers	HepG2	liver
22	chr12:9871400-9873600	Enhancers	A549	lung
23	chr12:9871600-9871800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:9871800-9872200	Enhancers	GM12878-XiMat	blood
25	chr12:9872000-9872400	Enhancers	Fetal Brain Male	brain
26	chr12:9872200-9872800	Flanking Active TSS	GM12878-XiMat	blood
27	chr12:9872200-9873600	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr12:9872400-9872600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:9872600-9872800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:9872600-9872800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr12:9872600-9872800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr12:9872600-9873000	Active TSS	Gastric	stomach
33	chr12:9872600-9874000	Enhancers	Hela-S3	cervix
34	chr12:9872600-9875400	Enhancers	Fetal Lung	lung
35	chr12:9872600-9875600	Enhancers	HUVEC	blood vessel
36	chr12:9872800-9873600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:9872800-9873600	Genic enhancers	GM12878-XiMat	blood
38	chr12:9872800-9874000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:9873200-9873600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr12:9873200-9875400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:9873400-9874400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:9873400-9874400	Enhancers	Colon Smooth Muscle	Colon
43	chr12:9873400-9875000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:9873400-9875400	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:9873600-9874400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:9873600-9874400	Enhancers	NHEK	skin
47	chr12:9873600-9874600	Enhancers	Placenta	Placenta
48	chr12:9873600-9874800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:9873600-9875200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:9873600-9875400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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