Variant report

Variant	nsv522291
Chromosome Location	chr2:172034918-172043803
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172037922..172040353-chr2:172040710..172043498,2	MCF-7	breast:
2	chr2:172014804..172017655-chr2:172034018..172036409,2	MCF-7	breast:
3	chr2:172037115..172039035-chr2:172040563..172042289,2	K562	blood:
4	chr2:172037922..172040353-chr2:172040710..172043498,2	MCF-7	breast:
5	chr2:172037115..172039035-chr2:172040563..172042289,2	K562	blood:
6	chr2:172027146..172029899-chr2:172042462..172045335,2	K562	blood:
7	chr2:172026236..172029009-chr2:172032109..172035323,3	K562	blood:
8	chr2:172028540..172030907-chr2:172040306..172041978,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198586	chromatin interactions

Extended variants
information (count: 325 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7582822	chr2:172034918-172034919	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559144006	chr2:172034924-172034925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373441406	chr2:172034938-172034939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377556237	chr2:172034965-172034966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11883894	chr2:172034974-172034975	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76614848	chr2:172034987-172034988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530692475	chr2:172034995-172034996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567429015	chr2:172035039-172035040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561324920	chr2:172035041-172035042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528435232	chr2:172035101-172035102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547070662	chr2:172035139-172035140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35044243	chr2:172035190-172035191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs75650412	chr2:172035195-172035196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539248280	chr2:172035209-172035210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185019952	chr2:172035234-172035235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569601759	chr2:172035290-172035291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75442940	chr2:172035313-172035314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537413021	chr2:172035354-172035355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573594751	chr2:172035404-172035405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375456449	chr2:172035420-172035421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188166260	chr2:172035423-172035424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553055176	chr2:172035446-172035447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577285385	chr2:172035469-172035470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544839365	chr2:172035643-172035644	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563137873	chr2:172035671-172035672	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114455023	chr2:172035719-172035720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542916226	chr2:172035723-172035724	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs180924682	chr2:172035732-172035733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138803613	chr2:172035755-172035756	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546640736	chr2:172035803-172035804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550113640	chr2:172035876-172035877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565410292	chr2:172035936-172035937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185532894	chr2:172036064-172036065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569937204	chr2:172036125-172036126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191184137	chr2:172036172-172036173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551244731	chr2:172036296-172036297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181601474	chr2:172036306-172036307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75258518	chr2:172036370-172036371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74929612	chr2:172036386-172036387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542705459	chr2:172036447-172036448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7560360	chr2:172036474-172036475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs78269476	chr2:172036513-172036514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117361774	chr2:172036533-172036534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75963296	chr2:172036540-172036541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562501955	chr2:172036562-172036563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201415814	chr2:172036580-172036581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57360155	chr2:172036626-172036627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556597620	chr2:172036641-172036642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368753801	chr2:172036644-172036645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575399582	chr2:172036666-172036667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172030600-172035600	Weak transcription	GM12878-XiMat	blood
2	chr2:172031600-172036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:172031600-172036800	Weak transcription	NHEK	skin
4	chr2:172031600-172037000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:172035600-172035800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:172035600-172035800	Enhancers	NHDF-Ad	bronchial
7	chr2:172035600-172037000	Enhancers	GM12878-XiMat	blood
8	chr2:172036000-172038000	Weak transcription	NHDF-Ad	bronchial
9	chr2:172036200-172037400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:172036400-172037200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:172036600-172037400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:172036600-172038600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:172036800-172037000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:172036800-172038000	Enhancers	K562	blood
15	chr2:172036800-172038400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:172036800-172038800	Enhancers	NHEK	skin
17	chr2:172037000-172037200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:172037000-172037200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:172037000-172038000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:172037000-172038000	Flanking Active TSS	GM12878-XiMat	blood
21	chr2:172037200-172037400	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr2:172037200-172038200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:172037200-172038600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:172037200-172038800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:172037200-172041800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:172037400-172037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:172037400-172038800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:172037800-172038400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:172037800-172038600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:172037800-172038600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:172037800-172038800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:172038000-172038200	Enhancers	Adipose Nuclei	Adipose
33	chr2:172038000-172038200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr2:172038000-172038400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:172038000-172038600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:172038000-172038600	Active TSS	Duodenum Mucosa	Duodenum
37	chr2:172038000-172038600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr2:172038000-172038600	Enhancers	Pancreas	Pancrea
39	chr2:172038000-172038600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr2:172038000-172038600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:172038000-172038600	Enhancers	GM12878-XiMat	blood
42	chr2:172038000-172038600	Flanking Active TSS	K562	blood
43	chr2:172038000-172038600	Enhancers	NHDF-Ad	bronchial
44	chr2:172038000-172038800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:172038000-172038800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:172038000-172038800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:172038000-172038800	Enhancers	Primary B cells from cord blood	blood
48	chr2:172038200-172038400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr2:172038200-172038400	Enhancers	HUVEC	blood vessel
50	chr2:172038200-172038600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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