Variant report

Variant	nsv515645
Chromosome Location	chr12:30810826-30812828
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	chr12:30812418..30814801-chr7:127470835..127472989,2	MCF-7	breast:
2	chr12:30810079..30812604-chr12:30812931..30814922,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112632327	chr12:30810826-30810827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545777112	chr12:30810905-30810906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564126278	chr12:30810927-30810928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150706009	chr12:30810952-30810953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112790129	chr12:30810964-30810965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7300234	chr12:30810989-30810990	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs530359636	chr12:30810996-30810997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190874973	chr12:30811001-30811002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563401747	chr12:30811113-30811114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4931358	chr12:30811179-30811180	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79075961	chr12:30811180-30811181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570850803	chr12:30811191-30811192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376235730	chr12:30811293-30811294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534596395	chr12:30811315-30811316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4335626	chr12:30811319-30811320	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs74083892	chr12:30811329-30811330	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535600629	chr12:30811397-30811398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557205953	chr12:30811418-30811419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374556652	chr12:30811540-30811541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570819971	chr12:30811559-30811560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76518360	chr12:30811570-30811571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182628380	chr12:30811597-30811598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557447841	chr12:30811651-30811652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188823774	chr12:30811681-30811682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541352162	chr12:30811722-30811723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568517827	chr12:30811762-30811763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199555041	chr12:30811779-30811780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11337753	chr12:30811811-30811812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61922848	chr12:30811833-30811834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574801351	chr12:30811843-30811844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557556464	chr12:30811845-30811846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12819962	chr12:30811859-30811860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541983891	chr12:30811871-30811872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563560531	chr12:30811876-30811877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193294241	chr12:30811883-30811884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145067319	chr12:30811893-30811894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533443964	chr12:30811901-30811902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564310688	chr12:30811907-30811908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575883757	chr12:30811959-30811960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184697314	chr12:30811960-30811961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527656017	chr12:30811979-30811980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36074842	chr12:30811992-30811993	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs187478238	chr12:30812008-30812009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368745545	chr12:30812056-30812057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550768720	chr12:30812067-30812068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569100907	chr12:30812102-30812103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192033202	chr12:30812109-30812110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557874622	chr12:30812150-30812151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140439219	chr12:30812161-30812162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184039542	chr12:30812168-30812169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
3	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
5	chr12:30775800-30813200	Weak transcription	HMEC	breast
6	chr12:30775800-30815200	Weak transcription	NHEK	skin
7	chr12:30779200-30812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:30781800-30826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:30782400-30814800	Weak transcription	Brain Angular Gyrus	brain
12	chr12:30782400-30821200	Weak transcription	Esophagus	oesophagus
13	chr12:30783800-30827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
15	chr12:30784000-30815800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
17	chr12:30785000-30847800	Weak transcription	Gastric	stomach
18	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
19	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:30785800-30813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:30786000-30813000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:30786000-30826600	Weak transcription	Colonic Mucosa	Colon
23	chr12:30787200-30813000	Weak transcription	Ovary	ovary
24	chr12:30787200-30813400	Weak transcription	Brain Substantia Nigra	brain
25	chr12:30787200-30821200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:30788000-30821000	Weak transcription	Stomach Mucosa	stomach
27	chr12:30790000-30813000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:30790200-30812200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:30790200-30813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:30790400-30813200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:30791200-30815600	Weak transcription	Fetal Brain Female	brain
32	chr12:30791200-30825200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:30791600-30811000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:30792000-30813200	Weak transcription	Psoas Muscle	Psoas
35	chr12:30792800-30812200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:30792800-30812200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:30793000-30812200	Weak transcription	Left Ventricle	heart
38	chr12:30793600-30825200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:30794200-30813200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:30796400-30812000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:30796800-30812800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:30796800-30816000	Weak transcription	NHLF	lung
43	chr12:30797000-30815200	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:30797200-30813000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:30798200-30812000	Weak transcription	Fetal Intestine Small	intestine
46	chr12:30798400-30812000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:30798400-30813200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:30798600-30814800	Weak transcription	HepG2	liver
49	chr12:30799200-30813200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:30801400-30815600	Weak transcription	Brain Germinal Matrix	brain

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