Variant report

Variant	esv3406286
Chromosome Location	chr12:9871143-9872940
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: 53 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201075236	chr12:9871144-9871145	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs202014715	chr12:9871145-9871146	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200241709	chr12:9871146-9871147	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576608379	chr12:9871243-9871244	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545452205	chr12:9871244-9871245	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139723246	chr12:9871251-9871252	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35979129	chr12:9871357-9871358	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192418649	chr12:9871402-9871403	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532546586	chr12:9871507-9871508	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114756189	chr12:9871580-9871581	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376937588	chr12:9871584-9871585	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144415227	chr12:9871596-9871597	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs146598277	chr12:9871615-9871616	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73059585	chr12:9871646-9871647	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572375703	chr12:9871694-9871695	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11835594	chr12:9871724-9871725	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs372461524	chr12:9871737-9871738	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs149894081	chr12:9871760-9871761	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2401390	chr12:9871814-9871815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs71457490	chr12:9871835-9871836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11052678	chr12:9871845-9871846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370528950	chr12:9871849-9871850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375216137	chr12:9871850-9871851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368351635	chr12:9871852-9871853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs1985788	chr12:9871872-9871873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs149027519	chr12:9871913-9871914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534471125	chr12:9871918-9871919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183744664	chr12:9871974-9871975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188721788	chr12:9871978-9871979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs59667611	chr12:9871983-9871984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191995442	chr12:9871995-9871996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539603691	chr12:9872019-9872020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558621211	chr12:9872053-9872054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182696682	chr12:9872076-9872077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147854754	chr12:9872103-9872104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187346365	chr12:9872116-9872117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35345708	chr12:9872159-9872160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs398018372	chr12:9872161-9872162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141409811	chr12:9872266-9872267	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7301386	chr12:9872292-9872293	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs71447600	chr12:9872425-9872426	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs76229210	chr12:9872489-9872490	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146985042	chr12:9872508-9872509	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35990903	chr12:9872549-9872550	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs554044071	chr12:9872622-9872623	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376191412	chr12:9872666-9872667	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148023819	chr12:9872680-9872681	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs141013690	chr12:9872698-9872699	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367643275	chr12:9872723-9872724	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572733414	chr12:9872728-9872729	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9858000-9872200	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:9861000-9873200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:9861000-9874200	Weak transcription	Fetal Thymus	thymus
4	chr12:9861600-9882400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:9861800-9874000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:9864000-9873600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:9864600-9883800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:9868400-9872600	Weak transcription	HUVEC	blood vessel
9	chr12:9868600-9879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:9869200-9874200	Weak transcription	K562	blood
11	chr12:9870600-9871800	Flanking Active TSS	GM12878-XiMat	blood
12	chr12:9870800-9871400	Weak transcription	A549	lung
13	chr12:9871000-9871400	Enhancers	Fetal Intestine Small	intestine
14	chr12:9871000-9874000	Enhancers	Primary B cells from cord blood	blood
15	chr12:9871400-9872000	Enhancers	HepG2	liver
16	chr12:9871400-9873600	Enhancers	A549	lung
17	chr12:9871600-9871800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr12:9871800-9872200	Enhancers	GM12878-XiMat	blood
19	chr12:9872000-9872400	Enhancers	Fetal Brain Male	brain
20	chr12:9872200-9872800	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:9872200-9873600	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr12:9872400-9872600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:9872600-9872800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:9872600-9872800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:9872600-9872800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:9872600-9873000	Active TSS	Gastric	stomach
27	chr12:9872600-9874000	Enhancers	Hela-S3	cervix
28	chr12:9872600-9875400	Enhancers	Fetal Lung	lung
29	chr12:9872600-9875600	Enhancers	HUVEC	blood vessel
30	chr12:9872800-9873600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:9872800-9873600	Genic enhancers	GM12878-XiMat	blood
32	chr12:9872800-9874000	Weak transcription	Rectal Mucosa Donor 29	rectum

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