Variant report

Variant	nsv823340
Chromosome Location	chr5:167775824-167782091
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:167718627..167721135-chr5:167773864..167777784,5	MCF-7	breast:
2	chr5:167774477..167779814-chr5:167781404..167787238,7	MCF-7	breast:
3	chr5:167743058..167744009-chr5:167778562..167779555,15	MCF-7	breast:
4	chr5:167742136..167743858-chr5:167780644..167782523,2	MCF-7	breast:
5	chr5:167777796..167780778-chr5:167879830..167882234,2	MCF-7	breast:
6	chr5:167774477..167779814-chr5:167781404..167787238,7	MCF-7	breast:
7	chr5:167717332..167720143-chr5:167780200..167783494,3	MCF-7	breast:
8	chr5:167772226..167775792-chr5:167776629..167780677,4	MCF-7	breast:
9	chr5:167743048..167744078-chr5:167779882..167780870,8	MCF-7	breast:
10	chr5:167743069..167744033-chr5:167779833..167780829,9	MCF-7	breast:
11	chr5:167743058..167744005-chr5:167778562..167779545,7	MCF-7	breast:
12	chr5:167779528..167782298-chr5:167789585..167792787,3	MCF-7	breast:
13	chr5:167770137..167772141-chr5:167777696..167779281,2	MCF-7	breast:
14	chr5:167743067..167743770-chr5:167778956..167779544,2	MCF-7	breast:
15	chr5:167723897..167724407-chr5:167779844..167780519,3	MCF-7	breast:
16	chr5:167769546..167772481-chr5:167773802..167776135,3	K562	blood:
17	chr5:167742960..167744048-chr5:167779833..167780829,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113645	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573009059	chr5:167775834-167775835	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147521805	chr5:167775845-167775846	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148107391	chr5:167775885-167775886	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116123684	chr5:167775951-167775952	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189691028	chr5:167775979-167775980	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568110869	chr5:167776021-167776022	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533354578	chr5:167776047-167776048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77686447	chr5:167776054-167776055	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114541763	chr5:167776058-167776059	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548173165	chr5:167776076-167776077	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370956334	chr5:167776085-167776086	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150645701	chr5:167776132-167776133	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181328964	chr5:167776198-167776199	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550594453	chr5:167776203-167776204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535216808	chr5:167776205-167776206	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139678456	chr5:167776268-167776269	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552750663	chr5:167776270-167776271	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572969349	chr5:167776286-167776287	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117919917	chr5:167776288-167776289	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76200084	chr5:167776424-167776425	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111510805	chr5:167776501-167776502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183683082	chr5:167776586-167776587	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544635789	chr5:167776599-167776600	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs80170042	chr5:167776685-167776686	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs578199818	chr5:167776686-167776687	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540803816	chr5:167776714-167776715	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560682412	chr5:167776766-167776767	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112522772	chr5:167776767-167776768	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570765378	chr5:167776781-167776782	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs367588586	chr5:167776794-167776795	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534967911	chr5:167776814-167776815	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530412838	chr5:167776835-167776836	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551401242	chr5:167776863-167776864	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113736397	chr5:167776879-167776880	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533277499	chr5:167776954-167776955	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546525389	chr5:167777007-167777008	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566311187	chr5:167777030-167777031	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535314561	chr5:167777044-167777045	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555431910	chr5:167777048-167777049	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146261214	chr5:167777056-167777057	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537805817	chr5:167777076-167777077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115975290	chr5:167777096-167777097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556560065	chr5:167777099-167777100	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188392871	chr5:167777133-167777134	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540912197	chr5:167777192-167777193	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139453181	chr5:167777193-167777194	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371858753	chr5:167777198-167777199	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181876262	chr5:167777199-167777200	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75635749	chr5:167777250-167777251	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373808103	chr5:167777251-167777252	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167762200-167791800	Weak transcription	Hela-S3	cervix
2	chr5:167764600-167780400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:167765000-167776600	Weak transcription	HepG2	liver
4	chr5:167766800-167783200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:167770600-167776000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:167770600-167780200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:167772400-167776000	Genic enhancers	A549	lung
8	chr5:167772800-167776200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:167772800-167776200	Enhancers	Stomach Mucosa	stomach
10	chr5:167773000-167777600	Enhancers	Pancreas	Pancrea
11	chr5:167773600-167776800	Enhancers	Esophagus	oesophagus
12	chr5:167773600-167777000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr5:167774000-167776800	Enhancers	Lung	lung
14	chr5:167774000-167777000	Enhancers	Gastric	stomach
15	chr5:167774400-167776400	Weak transcription	Fetal Intestine Small	intestine
16	chr5:167774400-167778800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:167774400-167781600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:167774800-167776000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:167774800-167776800	Weak transcription	Fetal Intestine Large	intestine
20	chr5:167775200-167776000	Strong transcription	Liver	Liver
21	chr5:167775200-167776000	Enhancers	Fetal Lung	lung
22	chr5:167775200-167780200	Weak transcription	HMEC	breast
23	chr5:167775200-167783000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:167775400-167776000	Weak transcription	Fetal Kidney	kidney
25	chr5:167775400-167778400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:167775400-167778800	Weak transcription	Brain Anterior Caudate	brain
27	chr5:167775400-167780000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:167775400-167780000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:167775400-167780200	Weak transcription	Brain Angular Gyrus	brain
30	chr5:167775400-167780200	Weak transcription	NHEK	skin
31	chr5:167775600-167776600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:167775600-167778400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:167775600-167783800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:167775800-167778600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:167775800-167778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:167776000-167776200	Enhancers	Fetal Kidney	kidney
37	chr5:167776000-167776400	Weak transcription	Liver	Liver
38	chr5:167776000-167776800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr5:167776000-167777600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:167776000-167778000	Strong transcription	A549	lung
41	chr5:167776000-167780400	Weak transcription	Fetal Lung	lung
42	chr5:167776000-167780600	Weak transcription	Placenta	Placenta
43	chr5:167776200-167780200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:167776200-167780200	Weak transcription	Stomach Mucosa	stomach
45	chr5:167776400-167776800	Strong transcription	Fetal Intestine Small	intestine
46	chr5:167776400-167777600	Enhancers	Liver	Liver
47	chr5:167776600-167776800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:167776600-167777600	Enhancers	HepG2	liver
49	chr5:167776800-167777200	Genic enhancers	Fetal Intestine Small	intestine
50	chr5:167776800-167777600	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links