Variant report

Variant	esv1807831
Chromosome Location	chr5:127395854-127410583
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:21)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:127395043..127397660-chr5:127418836..127421107,2	MCF-7	breast:
2	chr5:127404446..127408379-chr5:127410147..127413224,3	MCF-7	breast:
3	chr5:127408566..127411442-chr5:127412168..127414357,2	K562	blood:
4	chr5:127404446..127408379-chr5:127410147..127413224,3	MCF-7	breast:
5	chr5:127398879..127402387-chr5:127402863..127406529,4	MCF-7	breast:
6	chr5:127406642..127408516-chr5:127409613..127411185,2	MCF-7	breast:
7	chr5:127398879..127402387-chr5:127402863..127406529,4	MCF-7	breast:
8	chr5:127395089..127397182-chr5:127418719..127420552,2	MCF-7	breast:
9	chr5:127389945..127392938-chr5:127400317..127402585,3	K562	blood:
10	chr5:127402829..127406387-chr5:127417400..127420194,3	K562	blood:
11	chr5:127403809..127406017-chr5:127417878..127419640,2	MCF-7	breast:
12	chr5:127406445..127408045-chr5:127418932..127420767,2	K562	blood:
13	chr5:127405958..127407674-chr5:127410063..127411683,2	K562	blood:
14	chr5:127400217..127401910-chr5:127408203..127411062,2	K562	blood:
15	chr5:127397653..127399381-chr5:127481671..127483980,2	K562	blood:
16	chr5:127406642..127408516-chr5:127409613..127411185,2	MCF-7	breast:
17	chr5:127394903..127397902-chr5:127411158..127414826,3	K562	blood:
18	chr5:127371822..127373727-chr5:127406697..127409135,2	K562	blood:
19	chr5:127405958..127407674-chr5:127410063..127411683,2	K562	blood:
20	chr5:127400217..127401910-chr5:127408203..127411062,2	K562	blood:
21	chr5:127406296..127408029-chr5:127419300..127420986,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC12A2-3	chr5:127395509-127396068	NONHSAT103639
2	lnc-SLC12A2-3	chr5:127397039-127397273	NONHSAT103639
3	lnc-SLC12A2-3	chr5:127396832-127396938	NONHSAT103639
4	lnc-FBN2-2	chr5:127396836-127396936	ENSG00000245937

No data

Variant related genes	Relation type
ENSG00000064651	chromatin interactions
ENSG00000245937	chromatin interactions
KIAA0802	miRNA target sites

Extended variants
information (count: 476 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10055519	chr5:127395854-127395855	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541139069	chr5:127395880-127395881	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs200311547	chr5:127395932-127395933	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs557752991	chr5:127395995-127395996	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs189798456	chr5:127395997-127395998	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs543724298	chr5:127396007-127396008	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs536048002	chr5:127396009-127396010	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs149075907	chr5:127396032-127396033	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs529073743	chr5:127396065-127396066	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs73335379	chr5:127396121-127396122	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs182058910	chr5:127396223-127396224	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs17607283	chr5:127396300-127396301	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551483923	chr5:127396306-127396307	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571288054	chr5:127396369-127396370	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143096335	chr5:127396378-127396379	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10065431	chr5:127396400-127396401	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543920582	chr5:127396446-127396447	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138709556	chr5:127396461-127396462	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs536548274	chr5:127396498-127396499	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs553492626	chr5:127396528-127396529	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532147809	chr5:127396569-127396570	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186206663	chr5:127396595-127396596	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142722800	chr5:127396601-127396602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538266823	chr5:127396609-127396610	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557920386	chr5:127396613-127396614	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577703176	chr5:127396634-127396635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188670964	chr5:127396661-127396662	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200805803	chr5:127396674-127396675	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367847833	chr5:127396690-127396691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs556683756	chr5:127396770-127396771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573835722	chr5:127396793-127396794	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542571174	chr5:127396806-127396807	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs147349668	chr5:127396851-127396852	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs180836708	chr5:127396860-127396861	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs545084749	chr5:127396901-127396902	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs185242125	chr5:127396966-127396967	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs368908114	chr5:127396969-127396970	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530813576	chr5:127396985-127396986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114462143	chr5:127397011-127397012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs561134885	chr5:127397031-127397032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530386309	chr5:127397078-127397079	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs189758611	chr5:127397079-127397080	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs371643802	chr5:127397127-127397128	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs567037860	chr5:127397158-127397159	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs539275235	chr5:127397244-127397245	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs551497855	chr5:127397253-127397254	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs183654961	chr5:127397258-127397259	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs537150804	chr5:127397351-127397352	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs556879269	chr5:127397352-127397353	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573575847	chr5:127397359-127397360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
2	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
3	chr5:127353200-127397000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:127354000-127397400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:127354400-127398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:127354600-127409800	Weak transcription	Left Ventricle	heart
7	chr5:127356200-127399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:127369400-127398000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:127371600-127398000	Weak transcription	Small Intestine	intestine
11	chr5:127374600-127418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:127375200-127414400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:127376000-127397000	Weak transcription	NHEK	skin
14	chr5:127376400-127397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:127376400-127414400	Weak transcription	Dnd41	blood
16	chr5:127377200-127414200	Weak transcription	K562	blood
17	chr5:127378000-127416600	Weak transcription	Spleen	Spleen
18	chr5:127378400-127401600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:127378400-127414200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:127378800-127415800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:127379000-127417400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:127380200-127398000	Weak transcription	Esophagus	oesophagus
23	chr5:127380200-127414600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:127380200-127416200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:127380400-127402800	Weak transcription	Gastric	stomach
26	chr5:127384600-127397600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:127384800-127397800	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:127385400-127398000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:127385600-127398000	Weak transcription	Brain Substantia Nigra	brain
30	chr5:127385600-127400000	Weak transcription	Fetal Lung	lung
31	chr5:127386400-127414400	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:127386600-127417000	Weak transcription	Adipose Nuclei	Adipose
33	chr5:127387600-127400600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:127389000-127409000	Weak transcription	Fetal Intestine Small	intestine
35	chr5:127389200-127397400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:127389200-127402000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:127389200-127409000	Weak transcription	Aorta	Aorta
38	chr5:127389200-127414400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:127389400-127396000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:127389400-127397600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:127389400-127398000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:127389400-127398000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:127389400-127398000	Weak transcription	Brain Angular Gyrus	brain
44	chr5:127389400-127414600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:127389600-127397200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:127389600-127397600	Weak transcription	Osteobl	bone
47	chr5:127389600-127417000	Weak transcription	Fetal Heart	heart
48	chr5:127389800-127416200	Weak transcription	Thymus	Thymus
49	chr5:127390200-127398000	Weak transcription	HSMMtube	muscle
50	chr5:127390200-127415400	Weak transcription	Primary T cells fromperipheralblood	blood

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