Variant report

Variant	nsv945283
Chromosome Location	chr1:212621169-212622554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212617519..212622581-chr1:212622841..212626048,6	K562	blood:
2	chr1:212604148..212606552-chr1:212621916..212623938,2	K562	blood:
3	chr1:212622374..212624323-chr1:212736768..212739383,2	K562	blood:

Variant related genes	Relation type
ENSG00000117691	chromatin interactions
ENSG00000162772	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533063439	chr1:212621220-212621221	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544620013	chr1:212621221-212621222	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374826352	chr1:212621229-212621230	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7520772	chr1:212621251-212621252	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112066780	chr1:212621252-212621253	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375194151	chr1:212621253-212621254	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544013365	chr1:212621257-212621258	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184916956	chr1:212621269-212621270	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7520878	chr1:212621328-212621329	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528917135	chr1:212621356-212621357	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527928554	chr1:212621358-212621359	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188535740	chr1:212621366-212621367	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537804770	chr1:212621441-212621442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570218596	chr1:212621444-212621445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537517364	chr1:212621446-212621447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549379266	chr1:212621458-212621459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567749626	chr1:212621477-212621478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181668550	chr1:212621480-212621481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549536931	chr1:212621494-212621495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75117955	chr1:212621507-212621508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554082259	chr1:212621508-212621509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186199377	chr1:212621517-212621518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs526887	chr1:212621519-212621520	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6540741	chr1:212621555-212621556	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs150405464	chr1:212621564-212621565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577431221	chr1:212621569-212621570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544753140	chr1:212621570-212621571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537935885	chr1:212621574-212621575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113124421	chr1:212621575-212621576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556673135	chr1:212621602-212621603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574823832	chr1:212621603-212621604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs600016	chr1:212621607-212621608	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs560852964	chr1:212621632-212621633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369910409	chr1:212621635-212621636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571822755	chr1:212621649-212621650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534518416	chr1:212621658-212621659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145042973	chr1:212621718-212621719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189037065	chr1:212621794-212621795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371861553	chr1:212621821-212621822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564303434	chr1:212621939-212621940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531771943	chr1:212621951-212621952	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375267325	chr1:212622071-212622072	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549489702	chr1:212622088-212622089	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182592971	chr1:212622094-212622095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186995154	chr1:212622107-212622108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547037305	chr1:212622134-212622135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149111098	chr1:212622153-212622154	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539324380	chr1:212622259-212622260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558070012	chr1:212622282-212622283	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574259471	chr1:212622318-212622319	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212607000-212623400	Weak transcription	HSMMtube	muscle
2	chr1:212607400-212622800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:212607400-212625800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:212607400-212626000	Weak transcription	Colonic Mucosa	Colon
5	chr1:212607400-212629200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:212607600-212621800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:212607600-212624000	Weak transcription	Fetal Brain Male	brain
8	chr1:212607600-212625800	Weak transcription	Stomach Mucosa	stomach
9	chr1:212607600-212626000	Weak transcription	NH-A	brain
10	chr1:212607800-212623400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:212607800-212624400	Weak transcription	NHEK	skin
12	chr1:212607800-212625800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:212607800-212625800	Weak transcription	NHLF	lung
14	chr1:212607800-212629400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:212608000-212621600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:212608000-212625800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:212608000-212627000	Weak transcription	HepG2	liver
18	chr1:212611000-212622200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:212613400-212621600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:212614200-212626000	Weak transcription	Fetal Kidney	kidney
21	chr1:212614400-212626200	Weak transcription	Pancreas	Pancrea
22	chr1:212614400-212629200	Weak transcription	GM12878-XiMat	blood
23	chr1:212614400-212636800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:212614600-212622400	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:212615000-212623400	Weak transcription	Right Atrium	heart
26	chr1:212615000-212623600	Weak transcription	Psoas Muscle	Psoas
27	chr1:212615800-212621400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:212616000-212621200	Strong transcription	Fetal Muscle Leg	muscle
29	chr1:212616600-212621200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr1:212616800-212621200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:212616800-212621400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:212616800-212624000	Strong transcription	Fetal Intestine Small	intestine
33	chr1:212617400-212621200	Strong transcription	Ovary	ovary
34	chr1:212617400-212621600	Strong transcription	Fetal Stomach	stomach
35	chr1:212617600-212621200	Strong transcription	Aorta	Aorta
36	chr1:212617600-212621200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:212617600-212621200	Strong transcription	Left Ventricle	heart
38	chr1:212617600-212621200	Strong transcription	Right Ventricle	heart
39	chr1:212617600-212621400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:212617600-212621400	Strong transcription	Placenta	Placenta
41	chr1:212617800-212621200	Strong transcription	Adipose Nuclei	Adipose
42	chr1:212618000-212621200	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr1:212618000-212623600	Weak transcription	HSMM	muscle
44	chr1:212618200-212622400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:212618400-212627000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:212619000-212621200	Strong transcription	Brain Anterior Caudate	brain
47	chr1:212619000-212621400	Strong transcription	Thymus	Thymus
48	chr1:212619000-212625800	Weak transcription	Fetal Lung	lung
49	chr1:212619400-212625800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:212619400-212627000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links