Variant report

Variant	nsv965550
Chromosome Location	chr5:68556472-68572197
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68530571..68531104-chr5:68561513..68562442,2	MCF-7	breast:
2	chr5:68562809..68566315-chr5:68569480..68571051,3	MCF-7	breast:
3	chr5:68554170..68556670-chr5:68558078..68560391,2	K562	blood:
4	chr5:68554024..68556278-chr5:68557122..68559775,2	MCF-7	breast:
5	chr5:68554170..68556670-chr5:68558078..68560391,2	K562	blood:
6	chr5:68562138..68565100-chr5:68662576..68664864,3	K562	blood:
7	chr5:68557150..68559662-chr5:68628565..68632043,3	MCF-7	breast:
8	chr5:68558474..68560530-chr5:68578996..68581239,2	MCF-7	breast:
9	chr5:68562809..68566315-chr5:68569480..68571051,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134058	chromatin interactions
ENSG00000085231	chromatin interactions
ENSG00000183323	chromatin interactions
ENSG00000215006	chromatin interactions

Extended variants
information (count: 572 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:572 , 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	rs187666419	chr5:68556540-68556541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536036868	chr5:68556564-68556565	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16898684	chr5:68556605-68556606	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369639478	chr5:68556608-68556609	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558136772	chr5:68556643-68556644	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147265596	chr5:68556675-68556676	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539860160	chr5:68556699-68556700	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564872590	chr5:68556700-68556701	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374045757	chr5:68556755-68556756	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190200745	chr5:68556770-68556771	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544928076	chr5:68556792-68556793	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141687726	chr5:68556841-68556842	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530343988	chr5:68556883-68556884	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548782429	chr5:68556888-68556889	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540431065	chr5:68556933-68556934	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560582504	chr5:68556956-68556957	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528130205	chr5:68557021-68557022	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546238127	chr5:68557083-68557084	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527757647	chr5:68557094-68557095	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552291813	chr5:68557160-68557161	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs367885335	chr5:68557211-68557212	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570785260	chr5:68557220-68557221	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs72767861	chr5:68557275-68557276	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs539709945	chr5:68557294-68557295	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs7706902	chr5:68557302-68557303	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs200189016	chr5:68557314-68557315	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs376469145	chr5:68557315-68557316	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs76287506	chr5:68557317-68557318	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112571092	chr5:68557347-68557348	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs150544036	chr5:68557351-68557352	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs111721784	chr5:68557352-68557353	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35466335	chr5:68557353-68557354	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs536077503	chr5:68557359-68557360	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs139358571	chr5:68557362-68557363	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs72767863	chr5:68557380-68557381	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs537243758	chr5:68557381-68557382	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs566254108	chr5:68557396-68557397	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145837721	chr5:68557397-68557398	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558357360	chr5:68557398-68557399	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138854084	chr5:68557402-68557403	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375756609	chr5:68557419-68557420	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs543837968	chr5:68557450-68557451	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs556848475	chr5:68557547-68557548	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs575150010	chr5:68557595-68557596	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs2932790	chr5:68557598-68557599	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs7707153	chr5:68557602-68557603	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138084927	chr5:68557622-68557623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs546320062	chr5:68557631-68557632	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs564420995	chr5:68557636-68557637	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531777605	chr5:68557640-68557641	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Colorectal cancer	21645411	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68531800-68556800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:68532400-68558600	Weak transcription	Brain Substantia Nigra	brain
5	chr5:68532400-68558800	Weak transcription	Brain Angular Gyrus	brain
6	chr5:68532400-68563600	Weak transcription	Fetal Brain Male	brain
7	chr5:68532400-68574600	Weak transcription	Spleen	Spleen
8	chr5:68533200-68576800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:68534400-68575200	Weak transcription	Aorta	Aorta
10	chr5:68535200-68558800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:68535200-68559400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:68535400-68556600	Weak transcription	HSMMtube	muscle
13	chr5:68538400-68563600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:68539000-68559200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
16	chr5:68546200-68560600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:68546200-68562200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:68546200-68579200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:68546400-68569000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:68546600-68566600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:68547600-68556600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:68548400-68557200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:68548400-68560600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:68548600-68566600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr5:68548800-68562000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:68549400-68565000	Weak transcription	Small Intestine	intestine
27	chr5:68549400-68577600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:68549600-68577600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:68549800-68567800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:68550400-68560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:68550400-68581800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr5:68550600-68559800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:68550600-68561000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:68550600-68562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:68550600-68577000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:68550800-68556600	Strong transcription	Osteobl	bone
37	chr5:68550800-68560400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:68550800-68560400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:68550800-68566600	Strong transcription	HSMM	muscle
40	chr5:68550800-68568400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:68550800-68569600	Strong transcription	Primary B cells from cord blood	blood
42	chr5:68551000-68556800	Weak transcription	K562	blood
43	chr5:68551200-68556800	Weak transcription	Right Ventricle	heart
44	chr5:68551200-68562000	Strong transcription	Placenta	Placenta
45	chr5:68551200-68567000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:68551400-68567400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:68551600-68556600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:68551600-68557600	Strong transcription	Thymus	Thymus
49	chr5:68551600-68558000	Strong transcription	HepG2	liver
50	chr5:68551600-68560200	Strong transcription	Rectal Mucosa Donor 29	rectum

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