Variant report

Variant	nsv876024
Chromosome Location	chr2:234842650-234856421
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	2:234840450-234842402..2:234842402-234843685	K562	blood:
2	chr2:234846587..234849218-chr2:234859033..234861096,2	MCF-7	breast:
3	chr2:234849252..234850788-chr2:234852764..234855618,2	MCF-7	breast:
4	2:234683624-234705119..2:234843685-234852750	Hela-S3	cervix:
5	2:234543708-234558325..2:234843685-234852750	Hela-S3	cervix:
6	chr2:234849252..234850788-chr2:234852764..234855618,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HJURP-1	chr2:234854790-234854983	ENSG00000237581.1

No data

Variant related genes	Relation type
ENSG00000234143	chromatin interactions
ENSG00000144481	chromatin interactions
ENSG00000185038	chromatin interactions
ENSG00000242515	chromatin interactions

Extended variants
information (count: 623 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7564831	chr2:234842650-234842651	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547970003	chr2:234842651-234842652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558196461	chr2:234842699-234842700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10490011	chr2:234842708-234842709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566169685	chr2:234842756-234842757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543921327	chr2:234842780-234842781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562524677	chr2:234842788-234842789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531574961	chr2:234842792-234842793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17863843	chr2:234842843-234842844	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs77042964	chr2:234842875-234842876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527243515	chr2:234842877-234842878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547096383	chr2:234842890-234842891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28901619	chr2:234842916-234842917	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532866052	chr2:234842996-234842997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570164750	chr2:234843036-234843037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549883239	chr2:234843080-234843081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146251761	chr2:234843082-234843083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116826246	chr2:234843087-234843088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs137994419	chr2:234843158-234843159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566047262	chr2:234843187-234843188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10189040	chr2:234843191-234843192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs67646620	chr2:234843225-234843226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372183691	chr2:234843288-234843289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13028228	chr2:234843309-234843310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201186213	chr2:234843316-234843317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs142870487	chr2:234843340-234843341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557534748	chr2:234843354-234843355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576255779	chr2:234843378-234843379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2190952	chr2:234843393-234843394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183427969	chr2:234843434-234843435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527608021	chr2:234843441-234843442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541348090	chr2:234843453-234843454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10490012	chr2:234843494-234843495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs532984380	chr2:234843545-234843546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574048275	chr2:234843561-234843562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549608540	chr2:234843600-234843601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148718161	chr2:234843635-234843636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529410882	chr2:234843663-234843664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142294414	chr2:234843687-234843688	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs565960924	chr2:234843693-234843694	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs150820387	chr2:234843788-234843789	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs534989251	chr2:234843798-234843799	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs552090361	chr2:234843818-234843819	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs372986068	chr2:234843823-234843824	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs577408980	chr2:234843880-234843881	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs537455310	chr2:234843901-234843902	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs28901620	chr2:234843917-234843918	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574199503	chr2:234843928-234843929	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs185987840	chr2:234843929-234843930	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs535619006	chr2:234843938-234843939	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234841000-234844800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:234841800-234847600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:234843000-234845400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:234844400-234845200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:234844800-234845400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:234845000-234845200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:234845200-234845400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:234845400-234847800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:234845400-234851400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:234846400-234846600	Enhancers	Gastric	stomach
11	chr2:234846600-234847600	Weak transcription	Gastric	stomach
12	chr2:234847400-234847600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:234847400-234847600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:234847400-234847800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr2:234847400-234847800	Bivalent Enhancer	Fetal Brain Male	brain
16	chr2:234847400-234848000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr2:234847400-234848000	Active TSS	Brain Germinal Matrix	brain
18	chr2:234847400-234848000	Active TSS	Fetal Brain Female	brain
19	chr2:234847400-234848200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:234847400-234848200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
21	chr2:234847600-234847800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:234847600-234847800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:234847600-234847800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr2:234847600-234847800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:234847600-234847800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr2:234847600-234847800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
27	chr2:234847600-234847800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:234847600-234847800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:234847600-234847800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:234847600-234847800	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr2:234847600-234847800	Active TSS	Fetal Intestine Small	intestine
32	chr2:234847600-234847800	Bivalent Enhancer	Fetal Stomach	stomach
33	chr2:234847600-234847800	Flanking Bivalent TSS/Enh	Right Atrium	heart
34	chr2:234847600-234847800	Bivalent Enhancer	Thymus	Thymus
35	chr2:234847600-234848000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr2:234847600-234848000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:234847600-234848000	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr2:234847600-234848000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:234847600-234848000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:234847600-234848000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr2:234847600-234848000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
43	chr2:234847600-234848000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:234847600-234848000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:234847600-234848000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
46	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:234847600-234848000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:234847600-234848000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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