Variant report

Variant	nsv969254
Chromosome Location	chr5:167763191-167771956
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:167754930..167757425-chr5:167761269..167763229,2	MCF-7	breast:
2	chr5:167754810..167757631-chr5:167767557..167769092,2	K562	blood:
3	chr5:167762254..167764626-chr5:167768506..167771343,2	K562	blood:
4	chr5:167769538..167771117-chr5:167771794..167774173,2	MCF-7	breast:
5	chr5:167762254..167764626-chr5:167768506..167771343,2	K562	blood:
6	chr5:167761098..167764213-chr5:167764568..167768008,3	MCF-7	breast:
7	chr5:167769546..167772481-chr5:167773802..167776135,3	K562	blood:
8	chr5:167717202..167719253-chr5:167767972..167770130,2	MCF-7	breast:
9	chr5:167761098..167764213-chr5:167764568..167768008,3	MCF-7	breast:
10	chr5:167764731..167766701-chr5:167770057..167771582,2	K562	blood:
11	chr5:167770137..167772141-chr5:167777696..167779281,2	MCF-7	breast:
12	chr5:167769538..167771117-chr5:167771794..167774173,2	MCF-7	breast:
13	chr5:167752388..167753899-chr5:167762059..167764293,2	MCF-7	breast:
14	chr5:167758868..167760513-chr5:167771947..167774625,2	MCF-7	breast:
15	chr5:167764731..167766701-chr5:167770057..167771582,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113645	chromatin interactions

Extended variants
information (count: 392 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529506845	chr5:167763242-167763243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544485008	chr5:167763244-167763245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554646496	chr5:167763253-167763254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184272659	chr5:167763263-167763264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376469280	chr5:167763293-167763294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557013835	chr5:167763294-167763295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561159280	chr5:167763303-167763304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138596540	chr5:167763313-167763314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188270818	chr5:167763314-167763315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200970372	chr5:167763331-167763332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141517506	chr5:167763341-167763342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572987016	chr5:167763346-167763347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541683182	chr5:167763358-167763359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192482089	chr5:167763389-167763390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6873605	chr5:167763391-167763392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184512320	chr5:167763392-167763393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140171264	chr5:167763394-167763395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533404853	chr5:167763400-167763401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375898440	chr5:167763405-167763406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369044725	chr5:167763448-167763449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190199530	chr5:167763491-167763492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536025607	chr5:167763508-167763509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377101391	chr5:167763577-167763578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549347250	chr5:167763589-167763590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57339649	chr5:167763598-167763599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11960507	chr5:167763599-167763600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147990785	chr5:167763601-167763602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369538024	chr5:167763635-167763636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537108367	chr5:167763640-167763641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556951174	chr5:167763650-167763651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4616924	chr5:167763664-167763665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144370468	chr5:167763691-167763692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1477307	chr5:167763698-167763699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34009070	chr5:167763707-167763708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539483411	chr5:167763714-167763715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553232865	chr5:167763721-167763722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532604971	chr5:167763724-167763725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369171461	chr5:167763775-167763776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115545112	chr5:167763806-167763807	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541971978	chr5:167763813-167763814	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11747707	chr5:167763842-167763843	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555292333	chr5:167763867-167763868	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77328921	chr5:167763876-167763877	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377265103	chr5:167763897-167763898	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544307529	chr5:167763912-167763913	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560019137	chr5:167763914-167763915	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564280873	chr5:167763944-167763945	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62385620	chr5:167763951-167763952	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540296703	chr5:167763977-167763978	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560824514	chr5:167764022-167764023	Weak transcription Enhancers Genic 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:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167752600-167773000	Weak transcription	Esophagus	oesophagus
2	chr5:167756200-167773000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:167757200-167775200	Weak transcription	Liver	Liver
4	chr5:167757600-167767400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:167758200-167772800	Weak transcription	Fetal Intestine Large	intestine
6	chr5:167758600-167768000	Weak transcription	Gastric	stomach
7	chr5:167759600-167767600	Weak transcription	NHEK	skin
8	chr5:167759800-167763200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:167760000-167763200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:167760000-167764800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:167760600-167763200	Enhancers	Placenta	Placenta
12	chr5:167761600-167768400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:167761800-167763400	Enhancers	A549	lung
14	chr5:167761800-167765000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:167761800-167765600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:167761800-167766000	Weak transcription	Fetal Lung	lung
17	chr5:167761800-167768000	Weak transcription	NHDF-Ad	bronchial
18	chr5:167761800-167772400	Weak transcription	Fetal Kidney	kidney
19	chr5:167762000-167764000	Weak transcription	HepG2	liver
20	chr5:167762000-167766400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:167762000-167767800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:167762200-167766200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:167762200-167769200	Weak transcription	Fetal Stomach	stomach
24	chr5:167762200-167791800	Weak transcription	Hela-S3	cervix
25	chr5:167762400-167763600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:167762400-167767800	Weak transcription	HMEC	breast
27	chr5:167762400-167769200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:167762400-167771400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:167762400-167773000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:167762400-167773400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:167762600-167763200	Enhancers	GM12878-XiMat	blood
32	chr5:167762800-167764200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:167762800-167764400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:167762800-167766000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:167762800-167766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:167762800-167770200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:167763000-167765800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:167763000-167765800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:167763000-167766200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:167763000-167768600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:167763000-167768800	Weak transcription	Pancreas	Pancrea
42	chr5:167763000-167769000	Weak transcription	Brain Anterior Caudate	brain
43	chr5:167763000-167771000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:167763200-167765600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:167763200-167766200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:167763200-167766200	Weak transcription	Placenta	Placenta
47	chr5:167763400-167763800	Weak transcription	A549	lung
48	chr5:167763600-167763800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:167763800-167765000	Genic enhancers	A549	lung
50	chr5:167764000-167765000	Enhancers	HepG2	liver

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