Variant report

Variant	nsv969961
Chromosome Location	chr5:68728421-68738498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68732288..68733823-chr5:68786804..68789445,2	MCF-7	breast:
2	chr5:68710510..68712481-chr5:68736622..68738391,2	MCF-7	breast:
3	chr5:68710396..68715393-chr5:68728134..68730483,5	MCF-7	breast:
4	chr5:68710603..68712753-chr5:68727792..68731201,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152939	chromatin interactions
ENSG00000197822	chromatin interactions

Extended variants
information (count: 330 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200677778	chr5:68728440-68728441	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200014615	chr5:68728477-68728478	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367611336	chr5:68728479-68728480	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140452135	chr5:68728481-68728482	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149971714	chr5:68728483-68728484	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376627126	chr5:68728491-68728492	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs199660704	chr5:68728512-68728513	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs299075	chr5:68728544-68728545	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs189245074	chr5:68728642-68728643	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551786762	chr5:68728643-68728644	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570043874	chr5:68728653-68728654	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537414837	chr5:68728667-68728668	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556514015	chr5:68728675-68728676	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574746078	chr5:68728730-68728731	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200786635	chr5:68728769-68728770	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75162729	chr5:68728784-68728785	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61736168	chr5:68728824-68728825	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545567560	chr5:68728831-68728832	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563770751	chr5:68728852-68728853	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377054430	chr5:68728856-68728857	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200109050	chr5:68728870-68728871	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542970702	chr5:68728898-68728899	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149176039	chr5:68728908-68728909	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs118203957	chr5:68728915-68728916	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369705941	chr5:68728925-68728926	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182280431	chr5:68728953-68728954	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529556261	chr5:68728965-68728966	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200000427	chr5:68728980-68728981	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11345515	chr5:68728981-68728982	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548009039	chr5:68729004-68729005	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13171247	chr5:68729008-68729009	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559675211	chr5:68729025-68729026	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533494727	chr5:68729041-68729042	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551605985	chr5:68729065-68729066	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187276289	chr5:68729114-68729115	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537452056	chr5:68729115-68729116	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549352473	chr5:68729146-68729147	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191679353	chr5:68729180-68729181	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535378192	chr5:68729206-68729207	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374123563	chr5:68729213-68729214	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs139928193	chr5:68729236-68729237	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565718651	chr5:68729269-68729270	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs71768265	chr5:68729290-68729291	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374148443	chr5:68729303-68729304	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369848758	chr5:68729387-68729388	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181742658	chr5:68729406-68729407	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570754440	chr5:68729407-68729408	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs299074	chr5:68729412-68729413	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs543058663	chr5:68729442-68729443	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557714591	chr5:68729576-68729577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68711800-68731000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:68712400-68731000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:68712400-68735600	Weak transcription	Hela-S3	cervix
4	chr5:68712400-68739000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:68712400-68740400	Weak transcription	Fetal Kidney	kidney
6	chr5:68712800-68738200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:68716000-68728800	Weak transcription	Lung	lung
8	chr5:68716000-68732200	Weak transcription	Esophagus	oesophagus
9	chr5:68716000-68733600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:68716000-68735800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:68716000-68738200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:68716000-68738800	Weak transcription	Fetal Stomach	stomach
13	chr5:68716200-68738000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:68716400-68729000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:68716400-68729800	Weak transcription	NHEK	skin
16	chr5:68716400-68742000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:68716600-68729800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:68719200-68733000	Strong transcription	Fetal Intestine Small	intestine
19	chr5:68719400-68729800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:68719400-68731800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:68719400-68733600	Weak transcription	Gastric	stomach
22	chr5:68725400-68732200	Weak transcription	Stomach Mucosa	stomach
23	chr5:68725400-68735800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:68726200-68740000	Weak transcription	Colonic Mucosa	Colon
25	chr5:68727400-68730400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr5:68727400-68730600	Strong transcription	HepG2	liver
27	chr5:68727400-68731600	Strong transcription	Pancreas	Pancrea
28	chr5:68727400-68734200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:68727600-68732800	Strong transcription	Fetal Intestine Large	intestine
30	chr5:68728200-68728600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:68728200-68728800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:68728200-68728800	Flanking Active TSS	GM12878-XiMat	blood
33	chr5:68728200-68732800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:68728200-68734200	Strong transcription	Liver	Liver
35	chr5:68728400-68728600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:68728400-68729000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:68728400-68729000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:68728400-68729000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:68728400-68729000	Strong transcription	Placenta	Placenta
40	chr5:68728400-68729000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:68728400-68730200	Strong transcription	HMEC	breast
42	chr5:68728400-68730400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:68728400-68730600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr5:68728400-68731800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:68728400-68732600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr5:68728600-68729800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:68728800-68729000	Enhancers	GM12878-XiMat	blood
48	chr5:68728800-68729400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:68728800-68731400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:68728800-68734200	Strong transcription	Lung	lung

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