Variant report

Variant	nsv527385
Chromosome Location	chr5:167689296-167691208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167688954..167689808-chr5:167743024..167744081,6	MCF-7	breast:
2	chr5:167687788..167689812-chr5:167692711..167695181,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17632540	chr5:167689296-167689297	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377647349	chr5:167689305-167689306	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372074193	chr5:167689329-167689330	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371080627	chr5:167689372-167689373	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543900155	chr5:167689378-167689379	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs17070041	chr5:167689404-167689405	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376115829	chr5:167689405-167689406	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370494324	chr5:167689409-167689410	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373794003	chr5:167689425-167689426	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577549812	chr5:167689437-167689438	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540250500	chr5:167689440-167689441	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201534550	chr5:167689441-167689442	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370475955	chr5:167689445-167689446	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374278776	chr5:167689455-167689456	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560157299	chr5:167689477-167689478	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368656543	chr5:167689496-167689497	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372246861	chr5:167689512-167689513	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376795770	chr5:167689529-167689530	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549156299	chr5:167689545-167689546	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368729024	chr5:167689557-167689558	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531586906	chr5:167689574-167689575	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200019261	chr5:167689607-167689608	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533733558	chr5:167689608-167689609	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376593293	chr5:167689642-167689643	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369019527	chr5:167689674-167689675	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373979082	chr5:167689698-167689699	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377065568	chr5:167689702-167689703	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369895255	chr5:167689703-167689704	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367963174	chr5:167689707-167689708	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547793415	chr5:167689714-167689715	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373369615	chr5:167689716-167689717	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567828843	chr5:167689738-167689739	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184692053	chr5:167689840-167689841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556485173	chr5:167689854-167689855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569905870	chr5:167689856-167689857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369945626	chr5:167689859-167689860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79433380	chr5:167689865-167689866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569600709	chr5:167689950-167689951	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538879891	chr5:167689959-167689960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530683007	chr5:167689982-167689983	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145959151	chr5:167690030-167690031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557408555	chr5:167690033-167690034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567107589	chr5:167690116-167690117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577688295	chr5:167690121-167690122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190544137	chr5:167690130-167690131	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553735527	chr5:167690163-167690164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116400798	chr5:167690164-167690165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542943411	chr5:167690178-167690179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562815213	chr5:167690182-167690183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371947827	chr5:167690189-167690190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16865294	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Epilepsy	20502679	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167646800-167695800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:167672200-167695800	Weak transcription	Fetal Heart	heart
3	chr5:167673000-167695600	Weak transcription	Brain Anterior Caudate	brain
4	chr5:167674400-167695800	Weak transcription	Fetal Lung	lung
5	chr5:167674600-167694400	Weak transcription	Fetal Brain Male	brain
6	chr5:167674800-167696000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:167675000-167695800	Weak transcription	Brain Angular Gyrus	brain
8	chr5:167675400-167696000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:167675400-167696000	Weak transcription	Fetal Brain Female	brain
10	chr5:167675800-167696000	Weak transcription	HSMM	muscle
11	chr5:167678800-167696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:167678800-167696000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:167679000-167696000	Weak transcription	Brain Germinal Matrix	brain
14	chr5:167679200-167695600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:167679600-167694800	Weak transcription	HSMMtube	muscle
16	chr5:167680800-167692000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:167684000-167690400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:167686600-167690800	Strong transcription	NHEK	skin
19	chr5:167686800-167690800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:167687200-167689800	Strong transcription	Right Ventricle	heart
21	chr5:167687200-167692000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:167687400-167689400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr5:167687400-167690000	Strong transcription	Left Ventricle	heart
24	chr5:167687400-167695800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:167688200-167689600	Strong transcription	HMEC	breast
26	chr5:167688400-167696200	Weak transcription	Right Atrium	heart
27	chr5:167688600-167690800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:167688800-167695800	Weak transcription	Liver	Liver
29	chr5:167688800-167695800	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:167689000-167689600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:167689000-167695800	Weak transcription	Fetal Intestine Large	intestine
32	chr5:167689200-167689600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:167689200-167689800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:167689200-167689800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:167689200-167689800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:167689600-167690000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:167689600-167690000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:167689600-167690800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:167689600-167695600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:167689600-167695800	Weak transcription	HMEC	breast
41	chr5:167689800-167695600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:167689800-167696000	Weak transcription	Right Ventricle	heart
43	chr5:167689800-167696200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:167690000-167690200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:167690000-167692800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:167690000-167696000	Weak transcription	Left Ventricle	heart
47	chr5:167690400-167695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:167690800-167695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:167690800-167695800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:167690800-167695800	Weak transcription	NHEK	skin

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