Variant report

Variant	nsv968187
Chromosome Location	chr5:68646127-68650097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68644789..68648896-chr5:68660361..68665573,5	K562	blood:
2	chr5:68527870..68529921-chr5:68647388..68650083,2	K562	blood:
3	chr5:68649986..68652513-chr5:68664085..68665816,2	MCF-7	breast:
4	chr5:68619412..68621979-chr5:68645837..68648113,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAD17-2	chr5:68645763-68646272	NONHSAT101913

Variant related genes	Relation type
ENSG00000152942	chromatin interactions
ENSG00000183323	chromatin interactions
ENSG00000085231	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373277636	chr5:68646212-68646213	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs537692726	chr5:68646259-68646260	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs549520345	chr5:68646271-68646272	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs567827695	chr5:68646276-68646277	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs57456727	chr5:68646328-68646329	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs376301043	chr5:68646336-68646337	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs4976195	chr5:68646354-68646355	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553753879	chr5:68646355-68646356	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs144416027	chr5:68646371-68646372	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs61290150	chr5:68646379-68646380	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185000551	chr5:68646381-68646382	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs576806566	chr5:68646511-68646512	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs563725298	chr5:68646571-68646572	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs540857042	chr5:68646628-68646629	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs76843304	chr5:68646665-68646666	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs574099452	chr5:68646687-68646688	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs371850645	chr5:68646696-68646697	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs36083098	chr5:68646703-68646704	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs530948514	chr5:68646724-68646725	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs371004217	chr5:68646744-68646745	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs188009490	chr5:68646752-68646753	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs533209246	chr5:68646933-68646934	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs545379152	chr5:68646961-68646962	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs62371695	chr5:68646991-68646992	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551619014	chr5:68647003-68647004	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs180871403	chr5:68647007-68647008	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs553035951	chr5:68647043-68647044	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs549583341	chr5:68647066-68647067	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs146061682	chr5:68647084-68647085	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs61013575	chr5:68647086-68647087	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs567888536	chr5:68647092-68647093	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs559178267	chr5:68647107-68647108	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs547211536	chr5:68647351-68647352	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs56342453	chr5:68647359-68647360	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs112214234	chr5:68647380-68647381	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs377767127	chr5:68647426-68647427	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs565757918	chr5:68647435-68647436	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs567536117	chr5:68647452-68647453	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs557744840	chr5:68647497-68647498	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs73772541	chr5:68647579-68647580	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534946006	chr5:68647592-68647593	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs537711339	chr5:68647593-68647594	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs192499485	chr5:68647610-68647611	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs574185384	chr5:68647691-68647692	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs142422231	chr5:68647727-68647728	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs147791913	chr5:68647728-68647729	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs183378922	chr5:68647745-68647746	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs187102572	chr5:68647808-68647809	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs563311470	chr5:68647813-68647814	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs374188732	chr5:68647851-68647852	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68628800-68649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:68629000-68646800	Weak transcription	NH-A	brain
3	chr5:68631600-68648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:68636000-68648000	Weak transcription	HepG2	liver
5	chr5:68638000-68660200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:68639200-68663400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:68642200-68650400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:68643000-68664400	Weak transcription	Colonic Mucosa	Colon
9	chr5:68643200-68647800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:68643200-68663200	Weak transcription	Small Intestine	intestine
11	chr5:68643600-68646200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:68643600-68655600	Weak transcription	Fetal Heart	heart
13	chr5:68643800-68646200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:68643800-68646200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:68643800-68648000	Weak transcription	HMEC	breast
16	chr5:68643800-68660400	Weak transcription	NHEK	skin
17	chr5:68643800-68660800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:68643800-68663600	Weak transcription	Brain Angular Gyrus	brain
19	chr5:68644000-68649600	Weak transcription	Hela-S3	cervix
20	chr5:68644000-68660600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:68644200-68647200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:68644200-68648000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:68644200-68649600	Weak transcription	Spleen	Spleen
24	chr5:68644200-68652400	Weak transcription	Esophagus	oesophagus
25	chr5:68644200-68660200	Weak transcription	HSMMtube	muscle
26	chr5:68644400-68646200	Weak transcription	Fetal Brain Male	brain
27	chr5:68644400-68646400	Weak transcription	Fetal Kidney	kidney
28	chr5:68644400-68649000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:68644400-68650600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:68644600-68648200	Weak transcription	Brain Substantia Nigra	brain
31	chr5:68644800-68646200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:68644800-68646600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:68644800-68658200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:68644800-68660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:68645000-68647000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:68645200-68660600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr5:68645600-68646200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:68645600-68646200	Strong transcription	Pancreas	Pancrea
39	chr5:68645600-68646400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:68645600-68646600	Strong transcription	Brain Germinal Matrix	brain
41	chr5:68645600-68646600	Strong transcription	Fetal Muscle Leg	muscle
42	chr5:68645600-68647600	Strong transcription	Fetal Intestine Small	intestine
43	chr5:68645600-68652200	Strong transcription	Adipose Nuclei	Adipose
44	chr5:68645600-68658400	Weak transcription	Gastric	stomach
45	chr5:68645800-68646200	Strong transcription	HUVEC	blood vessel
46	chr5:68645800-68646400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:68645800-68646400	Strong transcription	Aorta	Aorta
48	chr5:68645800-68646400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr5:68645800-68646400	Strong transcription	Lung	lung
50	chr5:68645800-68646400	Strong transcription	Thymus	Thymus

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