Variant report

Variant	nsv819798
Chromosome Location	chr12:49460227-49463587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49460133..49461830-chr16:3506475..3509375,2	MCF-7	breast:
2	chr12:49462455..49464108-chr12:49657502..49660398,3	K562	blood:
3	chr12:49462517..49467862-chr12:49502773..49505660,4	MCF-7	breast:
4	chr12:49461899..49463534-chr12:49657876..49660363,2	MCF-7	breast:
5	chr12:49462406..49465445-chr12:49657502..49661212,4	K562	blood:
6	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
7	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
8	chr12:49457724..49460435-chr12:49497636..49500149,2	MCF-7	breast:
9	chr12:49408338..49419708-chr12:49447252..49460551,38	K562	blood:
10	chr12:49456178..49460565-chr12:49463551..49467043,4	MCF-7	breast:
11	chr12:49448896..49462070-chr12:49656751..49663992,28	K562	blood:
12	chr12:49451508..49465481-chr12:49521303..49528986,40	MCF-7	breast:
13	chr12:49462240..49465825-chr12:49663317..49667869,4	K562	blood:
14	chr12:49462171..49464996-chr12:49523872..49525977,3	MCF-7	breast:
15	chr12:49457901..49460694-chr12:49643033..49644659,2	K562	blood:
16	chr12:49460491..49475559-chr12:49480736..49489831,23	K562	blood:
17	chr12:49410463..49414527-chr12:49462417..49465664,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139549	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000258232	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000122390	chromatin interactions
ENSG00000257346	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000167548	chromatin interactions
ENSG00000200309	chromatin interactions
ENSG00000139636	chromatin interactions
ENSG00000181929	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000262621	chromatin interactions
ENSG00000167550	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200725647	chr12:49460236-49460237	Enhancers Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs186774244	chr12:49460243-49460244	Enhancers Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs536373755	chr12:49460251-49460252	Enhancers Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs553453687	chr12:49460257-49460258	Enhancers Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs148047837	chr12:49460259-49460260	Enhancers Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs142176077	chr12:49460262-49460263	Enhancers Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs373786554	chr12:49460281-49460282	Enhancers Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs149499393	chr12:49460335-49460336	Enhancers Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs539028234	chr12:49460364-49460365	Enhancers Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs145928451	chr12:49460416-49460417	Weak transcription Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs558988681	chr12:49460441-49460442	Weak transcription Enhancers Strong transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs61751607	chr12:49460450-49460451	Weak transcription Enhancers Strong transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs576264898	chr12:49460529-49460530	Weak transcription Enhancers Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs191114613	chr12:49460673-49460674	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs557224405	chr12:49460696-49460697	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs368086631	chr12:49460730-49460731	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs371852093	chr12:49460741-49460742	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs368533410	chr12:49460820-49460821	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs199740345	chr12:49460822-49460823	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs559406077	chr12:49460856-49460857	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs372967173	chr12:49460883-49460884	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs76602093	chr12:49460901-49460902	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs398019474	chr12:49460902-49460903	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs528125276	chr12:49460923-49460924	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs376950092	chr12:49460935-49460936	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs183264891	chr12:49461010-49461011	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs564526767	chr12:49461011-49461012	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs61067314	chr12:49461023-49461024	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs531142291	chr12:49461047-49461048	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs4018209	chr12:49461069-49461070	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370630901	chr12:49461123-49461124	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs145056685	chr12:49461124-49461125	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs530331881	chr12:49461233-49461234	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs76065035	chr12:49461251-49461252	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs546832764	chr12:49461287-49461288	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs138865002	chr12:49461324-49461325	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs538748223	chr12:49461331-49461332	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs552637967	chr12:49461418-49461419	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs372424989	chr12:49461476-49461477	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs549744522	chr12:49461478-49461479	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs569256260	chr12:49461527-49461528	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs551695540	chr12:49461545-49461546	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs141990238	chr12:49461549-49461550	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs186388726	chr12:49461550-49461551	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs146297374	chr12:49461552-49461553	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs56065703	chr12:49461566-49461567	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs536449071	chr12:49461614-49461615	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs568099831	chr12:49461619-49461620	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs552886521	chr12:49461631-49461632	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs572931331	chr12:49461635-49461636	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD

Chromatin state (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49455200-49461800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:49455200-49462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:49455200-49462800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:49455400-49461800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:49455400-49461800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:49455400-49462600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:49455400-49462600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:49455400-49462600	Weak transcription	Primary T cells from cord blood	blood
9	chr12:49455400-49462600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:49455400-49462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:49455400-49462600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:49455400-49462600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:49455400-49462800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:49455400-49462800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:49455400-49462800	Weak transcription	Fetal Lung	lung
16	chr12:49455400-49462800	Weak transcription	Right Ventricle	heart
17	chr12:49455400-49462800	Weak transcription	HSMM	muscle
18	chr12:49455400-49463000	Weak transcription	Lung	lung
19	chr12:49455400-49463200	Weak transcription	Aorta	Aorta
20	chr12:49455600-49461800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:49455600-49462400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:49455600-49462400	Weak transcription	GM12878-XiMat	blood
23	chr12:49455600-49462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:49455600-49462600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:49455600-49462600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:49455600-49462600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:49455600-49462600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:49455600-49462600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:49455600-49462600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:49455600-49462600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:49455600-49462600	Weak transcription	Fetal Thymus	thymus
32	chr12:49455600-49462600	Weak transcription	HMEC	breast
33	chr12:49455600-49462600	Weak transcription	HUVEC	blood vessel
34	chr12:49455600-49462600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:49455600-49462600	Weak transcription	NH-A	brain
36	chr12:49455600-49462800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:49455600-49462800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:49455600-49462800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:49455600-49462800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:49455600-49462800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:49455600-49462800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:49455600-49462800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:49455600-49462800	Weak transcription	Brain Substantia Nigra	brain
44	chr12:49455600-49462800	Weak transcription	Fetal Kidney	kidney
45	chr12:49455600-49462800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:49455600-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:49455600-49463000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:49455600-49463000	Weak transcription	HSMMtube	muscle
49	chr12:49455800-49462600	Weak transcription	Primary B cells from cord blood	blood
50	chr12:49455800-49462600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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