Variant report

Variant	nsv533306
Chromosome Location	chr5:126122436-126137162
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126111639..126113760-chr5:126129200..126131238,2	MCF-7	breast:
2	chr5:126112394..126114255-chr5:126124910..126128811,3	MCF-7	breast:
3	chr5:126116007..126118146-chr5:126123068..126125342,2	K562	blood:
4	chr5:126121325..126123278-chr5:126123721..126126888,3	K562	blood:
5	chr5:126121325..126123278-chr5:126123721..126126888,3	K562	blood:
6	chr5:126088936..126091657-chr5:126128760..126130440,2	K562	blood:
7	chr5:126111234..126115600-chr5:126116361..126125062,16	K562	blood:
8	chr5:126125295..126130824-chr5:126132329..126136999,5	K562	blood:
9	chr5:126013283..126015989-chr5:126122282..126123815,2	K562	blood:
10	chr5:126135601..126137322-chr5:126144015..126147273,3	K562	blood:
11	chr5:126111502..126113719-chr5:126132714..126135080,2	K562	blood:
12	chr5:126125295..126130824-chr5:126132329..126136999,5	K562	blood:
13	chr5:126118154..126120427-chr5:126122926..126124694,2	MCF-7	breast:
14	chr5:126111624..126114477-chr5:126126554..126131251,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252185	chromatin interactions
ENSG00000251072	chromatin interactions
ENSG00000113368	chromatin interactions

Extended variants
information (count: 579 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543899321	chr5:126122447-126122448	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs562495256	chr5:126122448-126122449	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs369581869	chr5:126122488-126122489	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573201791	chr5:126122585-126122586	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs76241671	chr5:126122621-126122622	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569831275	chr5:126122660-126122661	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532659752	chr5:126122729-126122730	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185197473	chr5:126122731-126122732	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs528674355	chr5:126122760-126122761	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142397934	chr5:126122817-126122818	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190795459	chr5:126122940-126122941	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145939699	chr5:126122958-126122959	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113718268	chr5:126122964-126122965	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569233754	chr5:126122965-126122966	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs13436106	chr5:126122997-126122998	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs79731486	chr5:126123009-126123010	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185716704	chr5:126123106-126123107	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs547454120	chr5:126123129-126123130	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs71223029	chr5:126123171-126123172	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371564161	chr5:126123172-126123173	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566738540	chr5:126123202-126123203	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191601796	chr5:126123211-126123212	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147677828	chr5:126123224-126123225	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs199765498	chr5:126123228-126123229	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369241791	chr5:126123234-126123235	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs371393200	chr5:126123236-126123237	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs79383273	chr5:126123238-126123239	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs13188247	chr5:126123240-126123241	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs142332901	chr5:126123255-126123256	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183168092	chr5:126123291-126123292	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369439473	chr5:126123292-126123293	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549106239	chr5:126123301-126123302	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558765024	chr5:126123311-126123312	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373707179	chr5:126123334-126123335	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188049243	chr5:126123363-126123364	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544290320	chr5:126123383-126123384	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555939085	chr5:126123399-126123400	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs148587423	chr5:126123504-126123505	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541423858	chr5:126123553-126123554	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs62391738	chr5:126123589-126123590	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528735899	chr5:126123598-126123599	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540458467	chr5:126123616-126123617	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs73333453	chr5:126123642-126123643	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554994044	chr5:126123644-126123645	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs566766824	chr5:126123667-126123668	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532546849	chr5:126123715-126123716	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs551058935	chr5:126123858-126123859	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142954394	chr5:126123922-126123923	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs151094253	chr5:126123923-126123924	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs72534408	chr5:126123997-126123998	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	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
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:126115200-126123600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:126115200-126123600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:126115800-126131800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:126115800-126137400	Weak transcription	HSMM	muscle
9	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:126116000-126123800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
12	chr5:126116400-126123600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:126116400-126123800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:126116400-126124800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:126116400-126125000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:126116400-126125200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:126116400-126128600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:126116400-126128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:126116400-126128800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:126116400-126128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:126116400-126130000	Weak transcription	Fetal Lung	lung
22	chr5:126116400-126137000	Weak transcription	Primary T cells from cord blood	blood
23	chr5:126116400-126140000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
26	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
28	chr5:126116600-126131400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:126116600-126140000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:126116800-126123800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:126116800-126128000	Weak transcription	HUVEC	blood vessel
33	chr5:126116800-126128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:126117000-126135000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
36	chr5:126117800-126128400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:126117800-126128800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
39	chr5:126118000-126124800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:126118000-126128800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:126118000-126137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:126118200-126123800	Weak transcription	NHDF-Ad	bronchial
43	chr5:126118200-126125000	Weak transcription	Fetal Heart	heart
44	chr5:126119400-126123800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:126119800-126123800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:126121000-126125000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr5:126121000-126132400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:126121200-126125200	Genic enhancers	Dnd41	blood
49	chr5:126121400-126125400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:126121400-126126600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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