Variant report

Variant	nsv1048984
Chromosome Location	chr12:40303909-40314741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40301225..40304048-chr12:40312812..40315442,2	K562	blood:
2	chr12:40313077..40313679-chr12:59990152..59990853,2	Hela-S3	cervix:
3	chr12:40301225..40304048-chr12:40312812..40315442,2	K562	blood:

Variant related genes	Relation type
ENSG00000118596	chromatin interactions

Extended variants
information (count: 374 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543838970	chr12:40303914-40303915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555472344	chr12:40303961-40303962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574105619	chr12:40304018-40304019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74563897	chr12:40304042-40304043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114628787	chr12:40304045-40304046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533367457	chr12:40304066-40304067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371693011	chr12:40304090-40304091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529160774	chr12:40304109-40304110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4405389	chr12:40304167-40304168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143928408	chr12:40304193-40304194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531110751	chr12:40304194-40304195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549779012	chr12:40304232-40304233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7298896	chr12:40304245-40304246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7133553	chr12:40304248-40304249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547198672	chr12:40304287-40304288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542661683	chr12:40304307-40304308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561411445	chr12:40304310-40304311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539653917	chr12:40304320-40304321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36102946	chr12:40304374-40304375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7300011	chr12:40304375-40304376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149308896	chr12:40304420-40304421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555751072	chr12:40304501-40304502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10877768	chr12:40304519-40304520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7315985	chr12:40304528-40304529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs117021267	chr12:40304553-40304554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553049880	chr12:40304572-40304573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577708992	chr12:40304632-40304633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545246646	chr12:40304663-40304664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114404080	chr12:40304665-40304666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373015985	chr12:40304713-40304714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531272744	chr12:40304714-40304715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191158741	chr12:40304747-40304748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374058437	chr12:40304758-40304759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181089711	chr12:40304799-40304800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547440489	chr12:40304800-40304801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528885044	chr12:40304841-40304842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373601888	chr12:40304893-40304894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186785671	chr12:40304952-40304953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565820146	chr12:40305017-40305018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533056797	chr12:40305026-40305027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551628650	chr12:40305035-40305036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377597234	chr12:40305047-40305048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536228996	chr12:40305059-40305060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs118019469	chr12:40305083-40305084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555394646	chr12:40305095-40305096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548590868	chr12:40305141-40305142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79036242	chr12:40305165-40305166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534715781	chr12:40305183-40305184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190355652	chr12:40305238-40305239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547231015	chr12:40305278-40305279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40298400-40314200	Weak transcription	Fetal Kidney	kidney
2	chr12:40298800-40311200	Weak transcription	Pancreas	Pancrea
3	chr12:40299200-40304400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:40299200-40305600	Weak transcription	Esophagus	oesophagus
5	chr12:40299200-40306400	Weak transcription	Left Ventricle	heart
6	chr12:40299600-40306200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:40299600-40309200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:40300000-40306200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:40300200-40309000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:40303200-40312200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:40303800-40304000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:40304200-40305800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:40304600-40305000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:40304600-40307000	Enhancers	Liver	Liver
15	chr12:40305600-40305800	Enhancers	Esophagus	oesophagus
16	chr12:40305800-40307000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr12:40305800-40307200	Enhancers	Stomach Mucosa	stomach
18	chr12:40306200-40306400	Enhancers	Rectal Smooth Muscle	rectum
19	chr12:40306200-40306400	Enhancers	Stomach Smooth Muscle	stomach
20	chr12:40306200-40306600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr12:40306200-40306800	Enhancers	NHEK	skin
22	chr12:40306200-40307000	Enhancers	HepG2	liver
23	chr12:40306400-40306600	Enhancers	Left Ventricle	heart
24	chr12:40306400-40306800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:40307800-40309800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:40309000-40309200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr12:40309200-40309400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:40309200-40309800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:40309200-40310000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:40309600-40311000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:40309800-40310800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:40309800-40310800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:40310400-40311600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:40310800-40311400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:40310800-40311600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:40310800-40311600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr12:40311000-40311200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:40311000-40311400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:40311000-40311600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr12:40311200-40311400	Enhancers	Aorta	Aorta
41	chr12:40311200-40311400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr12:40311200-40311600	Enhancers	Pancreas	Pancrea
43	chr12:40311400-40315400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:40311400-40317800	Weak transcription	Aorta	Aorta
45	chr12:40311600-40314600	Weak transcription	Pancreas	Pancrea
46	chr12:40311600-40315000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr12:40311600-40315200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr12:40311600-40316200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:40311600-40318600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:40312200-40312600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links