Variant report

Variant	nsv961394
Chromosome Location	chr2:37421117-37422657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:37422597-37422665	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:37422555-37422595	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37375443..37378209-chr2:37422439..37424991,2	MCF-7	breast:
2	chr2:37381640..37387428-chr2:37421417..37425727,6	MCF-7	breast:
3	chr2:37416928..37419854-chr2:37422137..37424726,5	K562	blood:
4	chr2:37420975..37425403-chr2:37457376..37460314,8	K562	blood:
5	chr2:37417209..37421178-chr2:37422730..37425028,3	MCF-7	breast:
6	chr2:37420171..37423121-chr2:37423446..37425110,2	K562	blood:
7	chr2:37422039..37425278-chr2:37456815..37459935,9	MCF-7	breast:
8	chr2:37193543..37195604-chr2:37419400..37421969,2	K562	blood:
9	chr2:37382658..37387385-chr2:37421093..37425812,6	MCF-7	breast:
10	chr2:37414854..37419854-chr2:37421416..37424726,5	K562	blood:
11	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEBPZ-1	chr2:37421525-37421880	NONHSAT070106

No data

Variant related genes	Relation type
ENSG00000233159	TF binding region
SULT6B1	TF binding region
CEBPZ-AS1	TF binding region
ENSG00000055332	chromatin interactions
ENSG00000138068	chromatin interactions
ENSG00000224891	chromatin interactions
ENSG00000003509	chromatin interactions
ENSG00000115808	chromatin interactions
ENSG00000115816	chromatin interactions
ENSG00000218739	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577270989	chr2:37421164-37421165	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs544724917	chr2:37421174-37421175	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs184933129	chr2:37421183-37421184	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs531046809	chr2:37421248-37421249	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs573480779	chr2:37421256-37421257	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs549627919	chr2:37421259-37421260	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs561470740	chr2:37421321-37421322	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs577677210	chr2:37421322-37421323	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs113140712	chr2:37421330-37421331	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs189385820	chr2:37421355-37421356	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs12992047	chr2:37421363-37421364	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2430492	chr2:37421414-37421415	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539109632	chr2:37421430-37421431	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs551113461	chr2:37421459-37421460	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs569816821	chr2:37421462-37421463	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs536877572	chr2:37421472-37421473	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs368429381	chr2:37421501-37421502	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs555632451	chr2:37421512-37421513	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs573894337	chr2:37421535-37421536	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
20	rs534605253	chr2:37421577-37421578	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
21	rs144865767	chr2:37421598-37421599	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
22	rs181339403	chr2:37421629-37421630	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
23	rs544688149	chr2:37421634-37421635	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
24	rs147919149	chr2:37421636-37421637	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
25	rs185235903	chr2:37421641-37421642	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
26	rs529424783	chr2:37421685-37421686	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
27	rs542890133	chr2:37421693-37421694	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
28	rs561539342	chr2:37421698-37421699	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
29	rs528735142	chr2:37421715-37421716	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
30	rs188097639	chr2:37421735-37421736	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
31	rs565248158	chr2:37421736-37421737	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
32	rs181947627	chr2:37421762-37421763	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
33	rs551072738	chr2:37421790-37421791	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
34	rs186117687	chr2:37421796-37421797	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
35	rs372011071	chr2:37421801-37421802	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
36	rs141231374	chr2:37421827-37421828	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
37	rs548865640	chr2:37421876-37421877	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
38	rs143482506	chr2:37421890-37421891	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs534569387	chr2:37421892-37421893	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs552883875	chr2:37421896-37421897	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs570888273	chr2:37421905-37421906	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs538291807	chr2:37421959-37421960	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs116254215	chr2:37421971-37421972	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs13019582	chr2:37421990-37421991	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs533322082	chr2:37421994-37421995	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs201487451	chr2:37421995-37421996	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs147985159	chr2:37422002-37422003	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs140740665	chr2:37422006-37422007	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs190535194	chr2:37422007-37422008	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs554837307	chr2:37422008-37422009	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37416800-37423200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:37417200-37423200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:37417200-37423200	Weak transcription	Pancreas	Pancrea
4	chr2:37417400-37423200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:37417400-37423200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:37417800-37423200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:37417800-37423200	Weak transcription	NH-A	brain
8	chr2:37418000-37423200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:37418000-37423200	Weak transcription	A549	lung
10	chr2:37418000-37423200	Weak transcription	Hela-S3	cervix
11	chr2:37418000-37423200	Weak transcription	HMEC	breast
12	chr2:37418000-37423400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:37418200-37423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:37418200-37423400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:37418400-37423200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:37418400-37423200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:37418400-37423200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:37418600-37427200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:37418800-37422400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:37419200-37423000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:37419200-37423200	Weak transcription	Esophagus	oesophagus
22	chr2:37419200-37423200	Weak transcription	Spleen	Spleen
23	chr2:37419200-37423400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:37419200-37423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:37419200-37423600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:37419400-37423200	Weak transcription	Primary B cells from cord blood	blood
27	chr2:37420200-37422800	Weak transcription	HepG2	liver
28	chr2:37420200-37423200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:37420200-37423200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:37420200-37423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:37420200-37423400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:37420200-37423400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:37420200-37423400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:37420400-37423000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:37420400-37423200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:37420400-37423200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:37420400-37423200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:37420400-37423400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:37421000-37423200	Weak transcription	Primary T cells from cord blood	blood
40	chr2:37421200-37423200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:37422400-37422600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr2:37422600-37423000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr2:37422600-37423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:37422600-37424400	Active TSS	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links