Variant report

Variant	esv2759025
Chromosome Location	chr2:10595578-10688969
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:150)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:150 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:10598894..10601084-chr2:10611398..10613354,2	K562	blood:
2	chr2:10586137..10589617-chr2:10638319..10642599,4	K562	blood:
3	chr2:10632460..10635197-chr2:10636856..10639931,3	MCF-7	breast:
4	chr2:10604691..10609376-chr2:10609961..10612604,4	K562	blood:
5	chr2:10583602..10586485-chr2:10613524..10616092,2	K562	blood:
6	chr2:10596837..10598747-chr2:10600609..10603052,2	K562	blood:
7	chr2:10642578..10644778-chr2:10652202..10654281,2	K562	blood:
8	chr2:10642439..10644523-chr2:10645794..10649242,3	K562	blood:
9	chr2:10586494..10589125-chr2:10618534..10620881,4	K562	blood:
10	chr2:10621871..10623712-chr2:10624023..10626018,2	K562	blood:
11	chr2:10598201..10598757-chr2:10630926..10631507,2	MCF-7	breast:
12	chr2:10601137..10602671-chr2:10605731..10607500,2	K562	blood:
13	chr2:10629215..10631818-chr2:10634712..10637386,3	K562	blood:
14	chr2:10596576..10598747-chr2:10600505..10604062,3	K562	blood:
15	chr2:10627903..10630300-chr2:10631307..10633904,2	MCF-7	breast:
16	chr2:10630024..10631968-chr2:10641152..10643203,2	MCF-7	breast:
17	chr2:10598201..10598757-chr2:10630926..10631507,2	MCF-7	breast:
18	chr2:10610441..10612912-chr2:10630602..10632976,2	MCF-7	breast:
19	chr2:10586494..10590709-chr2:10617986..10621603,8	K562	blood:
20	chr2:10611237..10613247-chr2:10627785..10629806,2	K562	blood:
21	chr2:10611237..10613247-chr2:10627785..10629806,2	K562	blood:
22	chr2:10644733..10647834-chr2:10649580..10651474,4	K562	blood:
23	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:
24	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:
25	chr2:10645039..10647150-chr2:10648824..10651474,2	K562	blood:
26	chr2:10587055..10588827-chr2:10683720..10686701,2	K562	blood:
27	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:
28	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
29	chr2:10586849..10588529-chr2:10658757..10660570,2	K562	blood:
30	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
31	chr2:10594206..10596318-chr2:10596724..10599167,2	K562	blood:
32	chr2:10638262..10640651-chr2:10646289..10648231,2	MCF-7	breast:
33	chr2:10594316..10596675-chr2:10601080..10603064,2	K562	blood:
34	chr2:10595054..10599667-chr2:10601551..10605339,4	MCF-7	breast:
35	chr2:10645039..10647150-chr2:10648824..10651474,2	K562	blood:
36	chr2:10589025..10591805-chr2:10613775..10616181,2	K562	blood:
37	chr2:10642439..10644523-chr2:10645794..10649242,3	K562	blood:
38	chr2:10593514..10595515-chr2:10610496..10612872,2	K562	blood:
39	chr2:10604691..10609376-chr2:10609961..10612604,4	K562	blood:
40	chr2:10586137..10589780-chr2:10636715..10642150,8	K562	blood:
41	chr2:10607786..10610149-chr2:10616691..10619066,2	MCF-7	breast:
42	chr2:10615117..10617902-chr2:10620067..10622428,2	MCF-7	breast:
43	chr2:10594316..10596675-chr2:10601080..10603064,2	K562	blood:
44	chr17:28049273..28050134-chr2:10654185..10655075,2	MCF-7	breast:
45	chr2:10598894..10601084-chr2:10611398..10613354,2	K562	blood:
46	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:
47	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
48	chr2:10654305..10656431-chr2:10657961..10660518,3	K562	blood:
49	chr2:10587092..10589525-chr2:10636667..10639799,3	MCF-7	breast:
50	chr2:10613870..10615985-chr2:10625987..10627702,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ODC1-1	chr2:10599565-10599614	l_1774_chr2:10594147-10599614_kidney
2	lnc-HPCAL1-1	chr2:10595549-10597076	XLOC_001342
3	lnc-HPCAL1-1	chr2:10595549-10597755	XLOC_001342
4	lnc-HPCAL1-1	chr2:10595549-10597755	XLOC_001342
5	lnc-HPCAL1-1	chr2:10595549-10595678	ENSG00000217258.2
6	lnc-HPCAL1-1	chr2:10595549-10597076	XLOC_001342
7	lnc-HPCAL1-1	chr2:10595549-10597698	XLOC_001342

No data

Variant related genes	Relation type
ENSG00000257135	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000217258	chromatin interactions
AP2A1	miRNA target sites
CTGF	miRNA target sites

Extended variants
information (count: 4144 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:4144 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6432097	chr2:10595578-10595579	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201947671	chr2:10595615-10595616	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs554355921	chr2:10595639-10595640	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs11679187	chr2:10595661-10595662	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs573073375	chr2:10595678-10595679	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs182225751	chr2:10595688-10595689	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs565275347	chr2:10595690-10595691	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs6731439	chr2:10595691-10595692	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs145238790	chr2:10595712-10595713	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs149172149	chr2:10595721-10595722	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs552042705	chr2:10595740-10595741	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs557991333	chr2:10595766-10595767	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs548784975	chr2:10595775-10595776	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs566981481	chr2:10595819-10595820	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs186520232	chr2:10595858-10595859	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs537795991	chr2:10595870-10595871	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs117340798	chr2:10595872-10595873	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs559940907	chr2:10595891-10595892	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs571133177	chr2:10595911-10595912	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs145927476	chr2:10595998-10595999	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs554826522	chr2:10596097-10596098	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs528671548	chr2:10596130-10596131	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs538198181	chr2:10596136-10596137	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs550182163	chr2:10596192-10596193	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs115810178	chr2:10596240-10596241	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs62127117	chr2:10596277-10596278	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548451299	chr2:10596311-10596312	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs554318885	chr2:10596362-10596363	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs553472792	chr2:10596371-10596372	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs572997830	chr2:10596390-10596391	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs572790024	chr2:10596397-10596398	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs190970315	chr2:10596455-10596456	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs75104558	chr2:10596462-10596463	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs544583622	chr2:10596474-10596475	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs550552407	chr2:10596501-10596502	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs574965316	chr2:10596506-10596507	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs377030557	chr2:10596553-10596554	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs542389158	chr2:10596563-10596564	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs560726964	chr2:10596583-10596584	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs10200732	chr2:10596593-10596594	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10200735	chr2:10596612-10596613	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564594248	chr2:10596655-10596656	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs531896711	chr2:10596673-10596674	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs550143358	chr2:10596691-10596692	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs568537197	chr2:10596695-10596696	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs115833236	chr2:10596715-10596716	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs183157520	chr2:10596729-10596730	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs114510878	chr2:10596732-10596733	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs566567931	chr2:10596757-10596758	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs533721264	chr2:10596769-10596770	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10589600-10597800	Weak transcription	HSMMtube	muscle
2	chr2:10590400-10600800	Weak transcription	Fetal Lung	lung
3	chr2:10590800-10615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:10591200-10595600	Enhancers	NHEK	skin
5	chr2:10592400-10598000	Weak transcription	Small Intestine	intestine
6	chr2:10592600-10597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:10592600-10597800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:10592600-10598000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:10592600-10598000	Weak transcription	Pancreas	Pancrea
10	chr2:10592800-10597800	Weak transcription	HSMM	muscle
11	chr2:10592800-10597800	Weak transcription	NHDF-Ad	bronchial
12	chr2:10593400-10595600	Enhancers	Fetal Muscle Leg	muscle
13	chr2:10593400-10597800	Weak transcription	NH-A	brain
14	chr2:10593400-10598400	Weak transcription	Gastric	stomach
15	chr2:10594000-10595800	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:10594000-10595800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:10594000-10595800	Enhancers	Stomach Smooth Muscle	stomach
18	chr2:10594400-10595600	Enhancers	Colon Smooth Muscle	Colon
19	chr2:10594400-10595800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:10594400-10597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:10594600-10595600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr2:10594600-10595600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:10594800-10595600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:10595000-10597800	Weak transcription	NHLF	lung
25	chr2:10595200-10595600	Weak transcription	HMEC	breast
26	chr2:10595200-10596400	Weak transcription	Fetal Thymus	thymus
27	chr2:10595200-10597400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:10595200-10597400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:10595200-10597800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:10595200-10597800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:10595200-10597800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:10595200-10597800	Weak transcription	Adipose Nuclei	Adipose
33	chr2:10595200-10597800	Weak transcription	Liver	Liver
34	chr2:10595200-10597800	Weak transcription	Right Ventricle	heart
35	chr2:10595200-10597800	Weak transcription	Stomach Mucosa	stomach
36	chr2:10595200-10597800	Weak transcription	Osteobl	bone
37	chr2:10595200-10598400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:10595400-10595600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr2:10595400-10597000	Weak transcription	Spleen	Spleen
40	chr2:10595400-10598000	Weak transcription	Esophagus	oesophagus
41	chr2:10595400-10600600	Weak transcription	Right Atrium	heart
42	chr2:10595600-10595800	Enhancers	HMEC	breast
43	chr2:10595600-10597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:10595600-10597400	Weak transcription	NHEK	skin
45	chr2:10595600-10597800	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:10595600-10598000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:10595800-10597400	Weak transcription	HMEC	breast
48	chr2:10595800-10597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:10595800-10597800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:10595800-10597800	Weak transcription	Stomach Smooth Muscle	stomach

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