Variant report

Variant	nsv968921
Chromosome Location	chr5:68608721-68610701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:68609281-68609579	K562	blood:	n/a	n/a
2	CEBPB	chr5:68609283-68609622	A549	lung:	n/a	n/a
3	CEBPB	chr5:68609281-68609638	IMR90	lung:	n/a	n/a
4	CEBPB	chr5:68609275-68609648	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:68609298-68609618	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:68609281-68609620	K562	blood:	n/a	n/a
7	GATA1	chr5:68608215-68608724	K562	blood:	n/a	chr5:68608468-68608477 chr5:68608470-68608477 chr5:68608463-68608484 chr5:68608470-68608477 chr5:68608438-68608448 chr5:68608435-68608452 chr5:68608468-68608478 chr5:68608470-68608477
8	POLR2A	chr5:68609465-68609573	MCF-7	breast:	n/a	n/a
9	STAT3	chr5:68609512-68609587	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68606839..68610803-chr5:68625940..68628885,4	MCF-7	breast:

Variant related genes	Relation type
CFL1P5	TF binding region
ENSG00000183323	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55987509	chr5:68608743-68608744	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543543286	chr5:68608796-68608797	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562123248	chr5:68608801-68608802	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116551907	chr5:68608818-68608819	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114093804	chr5:68608860-68608861	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116346102	chr5:68608887-68608888	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs71612529	chr5:68608889-68608890	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs70992921	chr5:68608897-68608898	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190194618	chr5:68608926-68608927	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552379059	chr5:68608963-68608964	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564126444	chr5:68608969-68608970	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144196526	chr5:68608985-68608986	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549561652	chr5:68608992-68608993	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144416708	chr5:68609038-68609039	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182780308	chr5:68609041-68609042	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148431201	chr5:68609055-68609056	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187252691	chr5:68609060-68609061	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs28706000	chr5:68609184-68609185	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558370697	chr5:68609211-68609212	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576519401	chr5:68609236-68609237	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537555768	chr5:68609256-68609257	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555869476	chr5:68609260-68609261	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530525616	chr5:68609273-68609274	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574099871	chr5:68609289-68609290	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541473233	chr5:68609312-68609313	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559764463	chr5:68609320-68609321	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112187931	chr5:68609329-68609330	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572418875	chr5:68609333-68609334	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs56139905	chr5:68609351-68609352	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545773767	chr5:68609377-68609378	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564318142	chr5:68609382-68609383	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs386688885	chr5:68609384-68609385	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192195366	chr5:68609423-68609424	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543516575	chr5:68609439-68609440	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373828758	chr5:68609450-68609451	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561479913	chr5:68609451-68609452	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528932023	chr5:68609467-68609468	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142544614	chr5:68609470-68609471	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182890937	chr5:68609505-68609506	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188757158	chr5:68609533-68609534	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs193292120	chr5:68609540-68609541	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570252553	chr5:68609561-68609562	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537215050	chr5:68609589-68609590	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150989276	chr5:68609606-68609607	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567790556	chr5:68609679-68609680	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs56162310	chr5:68609683-68609684	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559732365	chr5:68609691-68609692	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535122489	chr5:68609707-68609708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374784685	chr5:68609760-68609761	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376642079	chr5:68609781-68609782	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
2	chr5:68564200-68611200	Weak transcription	Fetal Brain Male	brain
3	chr5:68565600-68627400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:68566800-68610800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:68576200-68609400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:68576400-68614400	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:68576400-68627600	Weak transcription	Brain Substantia Nigra	brain
8	chr5:68576400-68627800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:68576600-68627800	Weak transcription	Brain Angular Gyrus	brain
10	chr5:68577400-68628200	Weak transcription	Small Intestine	intestine
11	chr5:68577600-68619800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:68577600-68627400	Weak transcription	NHEK	skin
13	chr5:68577800-68626600	Weak transcription	A549	lung
14	chr5:68581600-68627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:68581800-68609000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:68581800-68609200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:68581800-68611000	Weak transcription	Psoas Muscle	Psoas
18	chr5:68581800-68617800	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:68581800-68626800	Weak transcription	Fetal Brain Female	brain
20	chr5:68581800-68627600	Weak transcription	Brain Anterior Caudate	brain
21	chr5:68582800-68622400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:68585000-68609000	Weak transcription	Spleen	Spleen
23	chr5:68588600-68615800	Weak transcription	Colonic Mucosa	Colon
24	chr5:68591600-68609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:68591600-68614000	Weak transcription	Osteobl	bone
26	chr5:68591600-68627600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:68596000-68626800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:68596600-68612800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:68597000-68608800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:68597000-68611400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:68598600-68611000	Strong transcription	Liver	Liver
32	chr5:68599400-68612000	Weak transcription	HepG2	liver
33	chr5:68599600-68627800	Weak transcription	NH-A	brain
34	chr5:68600600-68610000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:68600800-68609000	Weak transcription	NHLF	lung
36	chr5:68600800-68610000	Strong transcription	Primary T cells from cord blood	blood
37	chr5:68601400-68627600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:68601800-68608800	Weak transcription	Aorta	Aorta
39	chr5:68602400-68611400	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:68603800-68609200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:68604200-68609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:68605200-68610000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr5:68605200-68610000	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:68605200-68610600	Weak transcription	HMEC	breast
45	chr5:68605400-68609800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr5:68605600-68609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:68605600-68609000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:68605600-68609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:68605600-68609400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:68605600-68609800	Strong transcription	Fetal Thymus	thymus

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