Variant report

Variant	esv1798626
Chromosome Location	chr2:172900948-172909852
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:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172903508..172905484-chr2:172912161..172915678,3	MCF-7	breast:
2	chr2:172904144..172906423-chr2:172922589..172924377,2	MCF-7	breast:
3	chr2:172901825..172905111-chr2:172958470..172962198,5	MCF-7	breast:
4	chr2:172900249..172901946-chr2:172954569..172956583,2	MCF-7	breast:
5	chr2:172900542..172905634-chr2:172946761..172951890,10	MCF-7	breast:
6	chr2:172903562..172906519-chr2:172947983..172949880,2	K562	blood:
7	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
8	chr2:172909159..172912131-chr2:172917033..172919851,3	MCF-7	breast:
9	chr2:172897089..172900010-chr2:172909839..172912586,2	K562	blood:
10	chr2:172863850..172866643-chr2:172902053..172905217,4	MCF-7	breast:
11	chr2:172903157..172907693-chr2:172948761..172951309,4	MCF-7	breast:
12	chr2:172903935..172905643-chr2:172934942..172937161,2	MCF-7	breast:
13	chr2:172903155..172905695-chr2:172921268..172923071,2	K562	blood:
14	chr2:172904276..172906441-chr2:172912588..172915159,2	K562	blood:
15	chr2:172908370..172912601-chr2:172912982..172915334,3	K562	blood:
16	chr2:172909379..172916271-chr2:172947539..172952263,13	K562	blood:
17	chr2:172902218..172904158-chr2:172948537..172951197,2	K562	blood:
18	chr2:172909513..172911907-chr2:172948039..172950967,2	MCF-7	breast:
19	chr2:172901921..172905424-chr2:172916575..172920187,5	MCF-7	breast:
20	chr2:172909670..172912609-chr2:172916665..172919120,2	MCF-7	breast:
21	chr2:172896231..172898804-chr2:172903539..172906403,3	K562	blood:
22	chr2:172864183..172866309-chr2:172899245..172901678,2	K562	blood:
23	chr2:172900609..172903455-chr2:172958625..172961122,3	MCF-7	breast:
24	chr2:172904432..172906257-chr2:172909270..172911024,2	K562	blood:
25	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
26	chr2:172906506..172908883-chr2:172947128..172949722,2	MCF-7	breast:
27	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
28	chr2:172904432..172906257-chr2:172909270..172911024,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METAP1D-2	chr2:172902321-172902351	l_1987_chr2:172825346-172897114_testes

No data

Variant related genes	Relation type
ENSG00000144355	chromatin interactions
ENSG00000115840	chromatin interactions
ENSG00000172878	chromatin interactions

Extended variants
information (count: 510 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12987931	chr2:172900948-172900949	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148798659	chr2:172900950-172900951	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs184207334	chr2:172900954-172900955	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs62183818	chr2:172900958-172900959	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs188076711	chr2:172900968-172900969	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370702073	chr2:172900974-172900975	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs191428458	chr2:172900987-172900988	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs559989687	chr2:172900990-172900991	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs554141465	chr2:172900991-172900992	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs552341674	chr2:172900992-172900993	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs368341458	chr2:172901003-172901004	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs183953434	chr2:172901006-172901007	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs549734315	chr2:172901014-172901015	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs188734857	chr2:172901016-172901017	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs12987945	chr2:172901017-172901018	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs547330344	chr2:172901019-172901020	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs141524887	chr2:172901024-172901025	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs374618908	chr2:172901027-172901028	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs557879938	chr2:172901031-172901032	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs12987951	chr2:172901035-172901036	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs367699791	chr2:172901036-172901037	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs371872901	chr2:172901037-172901038	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs12692980	chr2:172901048-172901049	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
24	rs573901998	chr2:172901058-172901059	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs7582986	chr2:172901070-172901071	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs181378149	chr2:172901076-172901077	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs560076476	chr2:172901082-172901083	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs545595099	chr2:172901083-172901084	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs187000890	chr2:172901086-172901087	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs531451082	chr2:172901088-172901089	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs549583903	chr2:172901091-172901092	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs112572438	chr2:172901092-172901093	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs12988675	chr2:172901093-172901094	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113498168	chr2:172901112-172901113	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs190246266	chr2:172901125-172901126	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs182473305	chr2:172901137-172901138	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs551147942	chr2:172901144-172901145	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs529704006	chr2:172901163-172901164	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs187322179	chr2:172901177-172901178	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs537553491	chr2:172901180-172901181	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs189774169	chr2:172901181-172901182	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs138586827	chr2:172901182-172901183	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs148913951	chr2:172901185-172901186	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs13015107	chr2:172901187-172901188	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs112432457	chr2:172901195-172901196	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
46	rs578246092	chr2:172901214-172901215	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs34486471	chr2:172901223-172901224	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs147988962	chr2:172901273-172901274	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs182432442	chr2:172901304-172901305	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs373166472	chr2:172901319-172901320	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172887400-172902800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:172893600-172902000	Weak transcription	K562	blood
3	chr2:172897000-172902600	Weak transcription	Spleen	Spleen
4	chr2:172897800-172902600	Weak transcription	Psoas Muscle	Psoas
5	chr2:172901200-172907400	Weak transcription	Fetal Kidney	kidney
6	chr2:172901600-172903600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:172902000-172903800	Enhancers	K562	blood
8	chr2:172902400-172903400	Enhancers	Hela-S3	cervix
9	chr2:172902400-172904600	Enhancers	Osteobl	bone
10	chr2:172902600-172902800	Enhancers	Spleen	Spleen
11	chr2:172902600-172903000	Enhancers	Psoas Muscle	Psoas
12	chr2:172902600-172904400	Enhancers	NHDF-Ad	bronchial
13	chr2:172902600-172904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:172902600-172904600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:172902600-172904600	Enhancers	NHEK	skin
16	chr2:172902800-172903800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:172902800-172904400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:172902800-172904600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:172903000-172904400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:172903000-172904600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:172903200-172904400	Enhancers	HMEC	breast
22	chr2:172903400-172903600	Flanking Active TSS	Hela-S3	cervix
23	chr2:172903400-172904000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:172903600-172904000	Enhancers	Hela-S3	cervix
25	chr2:172903600-172904400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:172904000-172904200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:172904000-172904400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:172904000-172904400	Flanking Active TSS	Hela-S3	cervix
29	chr2:172904400-172904600	Enhancers	Hela-S3	cervix
30	chr2:172907400-172907800	ZNF genes & repeats	Fetal Kidney	kidney
31	chr2:172907800-172916000	Weak transcription	Fetal Kidney	kidney

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