Variant report

Variant	nsv882682
Chromosome Location	chr5:107213361-107458336
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:107224160..107226542-chr5:107227627..107229564,2	MCF-7	breast:
2	chr5:107285811..107288026-chr5:107290020..107292465,2	K562	blood:
3	chr5:107436261..107438688-chr5:107440363..107442788,2	K562	blood:
4	chr5:107250267..107252341-chr5:107255379..107258220,2	MCF-7	breast:
5	chr5:107250267..107252341-chr5:107255379..107258220,2	MCF-7	breast:
6	chr5:107291351..107293032-chr5:107293454..107296133,2	K562	blood:
7	chr5:107285431..107288026-chr5:107290064..107292465,2	K562	blood:
8	chr19:10443777..10444391-chr5:107213260..107213760,2	NB4	blood:
9	chr5:107218138..107220384-chr5:107223112..107225294,2	MCF-7	breast:
10	chr5:107291351..107293032-chr5:107293454..107296133,2	K562	blood:
11	chr5:107194483..107196871-chr5:107218196..107219851,2	K562	blood:
12	chr5:107422254..107425406-chr5:107428129..107431708,3	K562	blood:
13	chr5:107422254..107425406-chr5:107428129..107431708,3	K562	blood:
14	chr5:107218138..107220384-chr5:107223112..107225294,2	MCF-7	breast:
15	chr5:107224160..107226542-chr5:107227627..107229564,2	MCF-7	breast:
16	chr5:107190619..107191158-chr5:107428660..107429481,2	MCF-7	breast:
17	chr5:107223013..107225610-chr5:107226958..107229602,2	K562	blood:
18	chr5:107332693..107334247-chr5:107337068..107339147,2	MCF-7	breast:
19	chr5:107223013..107225610-chr5:107226958..107229602,2	K562	blood:
20	chr5:107364061..107366146-chr5:107369915..107372470,2	K562	blood:
21	chr5:107436261..107438688-chr5:107440363..107442788,2	K562	blood:
22	chr5:107252925..107255103-chr5:107256825..107259080,2	MCF-7	breast:
23	chr5:107364061..107366146-chr5:107369915..107372470,2	K562	blood:
24	chr5:107261563..107265755-chr5:107273102..107276597,3	K562	blood:
25	chr5:107261563..107265755-chr5:107273102..107276597,3	K562	blood:
26	chr5:107332693..107334247-chr5:107337068..107339147,2	MCF-7	breast:
27	chr5:107285431..107288026-chr5:107290064..107292465,2	K562	blood:
28	chr5:107252925..107255103-chr5:107256825..107259080,2	MCF-7	breast:
29	chr5:107285811..107288026-chr5:107290020..107292465,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161847	chromatin interactions

Extended variants
information (count: 9323 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:9323 , 50 per page) page: 1 2 3 4 5 6 7 ... 187

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11748134	chr5:107213361-107213362	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79551704	chr5:107213365-107213366	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73780445	chr5:107213393-107213394	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568161523	chr5:107213401-107213402	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140277688	chr5:107213405-107213406	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372032837	chr5:107213490-107213491	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563568196	chr5:107213493-107213494	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529380832	chr5:107213507-107213508	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537916271	chr5:107213511-107213512	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150336737	chr5:107213565-107213566	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114616242	chr5:107213662-107213663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115652651	chr5:107213683-107213684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551225631	chr5:107213690-107213691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367672678	chr5:107213734-107213735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571228611	chr5:107213745-107213746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138003765	chr5:107213753-107213754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189227956	chr5:107213765-107213766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182020038	chr5:107213804-107213805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567190811	chr5:107213808-107213809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369767997	chr5:107213826-107213827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114175837	chr5:107213857-107213858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115215013	chr5:107213862-107213863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199972521	chr5:107213871-107213872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535253790	chr5:107213909-107213910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558420645	chr5:107213947-107213948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57333459	chr5:107213967-107213968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550142401	chr5:107213989-107213990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374124280	chr5:107213998-107213999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143430115	chr5:107214007-107214008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557318978	chr5:107214008-107214009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573952188	chr5:107214070-107214071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372782056	chr5:107214073-107214074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543064951	chr5:107214081-107214082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147132173	chr5:107214087-107214088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139363321	chr5:107214110-107214111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74553024	chr5:107214128-107214129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575297869	chr5:107214179-107214180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564771734	chr5:107214186-107214187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530704351	chr5:107214215-107214216	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550604601	chr5:107214216-107214217	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373333674	chr5:107214270-107214271	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529672887	chr5:107214283-107214284	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71575455	chr5:107214307-107214308	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186209669	chr5:107214335-107214336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546647313	chr5:107214341-107214342	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377166109	chr5:107214382-107214383	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545700793	chr5:107214390-107214391	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566425560	chr5:107214449-107214450	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs11745018	chr5:107214510-107214511	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs551996905	chr5:107214540-107214541	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1534 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107194000-107219000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:107195200-107214800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr5:107195400-107214200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:107195400-107215000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:107195400-107215000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:107195400-107217800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:107195400-107220000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:107195400-107223200	Weak transcription	Left Ventricle	heart
9	chr5:107195800-107214400	Weak transcription	Fetal Intestine Small	intestine
10	chr5:107195800-107218200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:107196800-107223200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:107197600-107215400	Weak transcription	Ovary	ovary
13	chr5:107197800-107215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:107197800-107215800	Weak transcription	Lung	lung
15	chr5:107197800-107219000	Weak transcription	Gastric	stomach
16	chr5:107197800-107228800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:107198000-107223000	Weak transcription	Adipose Nuclei	Adipose
18	chr5:107202800-107215800	Weak transcription	Fetal Intestine Large	intestine
19	chr5:107203600-107218800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:107205000-107214400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:107205400-107217000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:107205400-107217400	Weak transcription	Fetal Stomach	stomach
23	chr5:107205600-107214400	Weak transcription	Brain Anterior Caudate	brain
24	chr5:107205800-107230000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:107206200-107221800	Weak transcription	HUVEC	blood vessel
26	chr5:107209400-107226000	Weak transcription	Psoas Muscle	Psoas
27	chr5:107209600-107213400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:107209800-107217600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:107210200-107217800	Weak transcription	Liver	Liver
30	chr5:107210600-107213400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:107211000-107219200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:107211000-107220400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:107211200-107213600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:107211600-107213400	Enhancers	Fetal Brain Female	brain
35	chr5:107211600-107221400	Weak transcription	Thymus	Thymus
36	chr5:107211800-107219600	Weak transcription	Esophagus	oesophagus
37	chr5:107212000-107213400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:107212000-107214200	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:107212000-107228800	Weak transcription	Aorta	Aorta
40	chr5:107212200-107214800	Enhancers	Fetal Brain Male	brain
41	chr5:107212200-107216000	Weak transcription	Primary T cells from cord blood	blood
42	chr5:107212400-107214200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:107212400-107216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:107212400-107223200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:107212600-107215600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:107213000-107213600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:107213000-107214400	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:107213000-107223200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:107213200-107214200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:107213200-107214400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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