Variant report

Variant	nsv427758
Chromosome Location	chr6:58502261-58780166
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:146)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:146 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:58778414..58779270-chr7:26240803..26241518,2	Hela-S3	cervix:
2	chr12:6493660..6495635-chr6:58777646..58779181,2	MCF-7	breast:
3	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
4	chr3:90450072..90451589-chr6:58776092..58777719,4	MCF-7	breast:
5	chr5:157496471..157496971-chr6:58776705..58777406,2	MCF-7	breast:
6	chr11:58678524..58679504-chr6:58777166..58777745,2	MCF-7	breast:
7	chr1:110090644..110091238-chr6:58776881..58777871,2	MCF-7	breast:
8	chr6:49499719..49500373-chr6:58777827..58778441,2	MCF-7	breast:
9	chr6:58777707..58778511-chr6:61909313..61909813,2	MCF-7	breast:
10	chr17:79008190..79010769-chr6:58777233..58779265,2	MCF-7	breast:
11	chr3:63980131..63982580-chr6:58776275..58779243,2	MCF-7	breast:
12	chr15:91473255..91473790-chr6:58778382..58779186,2	MCF-7	breast:
13	chr20:62493089..62495109-chr6:58777340..58778920,2	MCF-7	breast:
14	chr14:19022553..19024053-chr6:58774785..58777168,2	MCF-7	breast:
15	chr17:46984708..46987154-chr6:58777011..58778755,2	MCF-7	breast:
16	chr6:58777712..58778738-chr6:61909295..61909815,6	MCF-7	breast:
17	chr6:58777390..58779179-chr6:133135024..133136911,2	MCF-7	breast:
18	chr6:58776953..58777924-chr9:126446426..126447140,2	MCF-7	breast:
19	chr2:109819769..109820303-chr6:58776869..58777442,2	MCF-7	breast:
20	chr6:58776657..58777247-chrX:136737324..136737914,2	MCF-7	breast:
21	chr6:58778318..58779144-chr9:130843661..130844171,2	MCF-7	breast:
22	chr20:19348440..19350405-chr6:58776310..58778887,2	MCF-7	breast:
23	chr20:52327864..52329489-chr6:58775870..58778258,2	MCF-7	breast:
24	chr17:66287677..66288456-chr6:58778380..58779126,2	MCF-7	breast:
25	chr6:58776797..58778439-chr9:136323811..136326318,2	MCF-7	breast:
26	chr20:36661511..36663112-chr6:58773928..58776889,2	K562	blood:
27	chr12:117585721..117587663-chr6:58775712..58777632,2	MCF-7	breast:
28	chr2:38304500..38306516-chr6:58776846..58778352,2	MCF-7	breast:
29	chr3:16360548..16361058-chr6:58778316..58779058,2	MCF-7	breast:
30	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
31	chr20:52815826..52816411-chr6:58777180..58778164,2	MCF-7	breast:
32	chr17:56707619..56709303-chr6:58776177..58777680,2	MCF-7	breast:
33	chr13:111364963..111367929-chr6:58777252..58779728,2	MCF-7	breast:
34	chr11:58678524..58679504-chr6:58776958..58777672,3	MCF-7	breast:
35	chr20:45984506..45987023-chr6:58776231..58780015,3	MCF-7	breast:
36	chr14:69258719..69262658-chr6:58778237..58780699,3	MCF-7	breast:
37	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
38	chr6:57252756..57255373-chr6:58778906..58780647,2	MCF-7	breast:
39	chr17:56736044..56736561-chr6:58778407..58779097,2	MCF-7	breast:
40	chr20:52560026..52560620-chr6:58777219..58777738,2	MCF-7	breast:
41	chr6:58776711..58777237-chr8:105771574..105772190,2	MCF-7	breast:
42	chr20:19633644..19634334-chr6:58777686..58778513,2	MCF-7	breast:
43	chr17:59487756..59489295-chr6:58776969..58779008,2	MCF-7	breast:
44	chr6:58777113..58777667-chr8:48324823..48325324,2	MCF-7	breast:
45	chr1:121484489..121485231-chr6:58779321..58780005,2	MCF-7	breast:
46	chr20:56089136..56089874-chr6:58774030..58774536,2	MCF-7	breast:
47	chr12:7070831..7073502-chr6:58777307..58779204,2	MCF-7	breast:
48	chr17:73716896..73718915-chr6:58776651..58778729,2	MCF-7	breast:
49	chr6:58776120..58778273-chr8:145699925..145701982,2	MCF-7	breast:
50	chr1:146555547..146556244-chr6:58778367..58779271,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAG2-7	chr6:58513504-58513860	ENSG00000223633.2

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000257084	chromatin interactions
ENSG00000141367	chromatin interactions
ENSG00000207708	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000183665	chromatin interactions
ENSG00000026103	chromatin interactions
ENSG00000226137	chromatin interactions
ENSG00000255326	chromatin interactions
ENSG00000089351	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000160325	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000185158	chromatin interactions
ENSG00000103528	chromatin interactions
ENSG00000212017	chromatin interactions
ENSG00000126749	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000175866	chromatin interactions
ENSG00000204272	chromatin interactions
ENSG00000104524	chromatin interactions
ENSG00000140553	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000112306	chromatin interactions
ENSG00000159202	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000206754	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000111321	chromatin interactions
ENSG00000101407	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000237080	chromatin interactions
ENSG00000065135	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000233822	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000101413	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000207713	chromatin interactions
ENSG00000160973	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000173914	chromatin interactions
ENSG00000009830	chromatin interactions
ENSG00000132470	chromatin interactions
ENSG00000248278	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000268858	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000185650	chromatin interactions

Extended variants
information (count: 4857 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:4857 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558625482	chr6:58513606-58513607	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs577018775	chr6:58513646-58513647	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs142735780	chr6:58513654-58513655	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs559354933	chr6:58513683-58513684	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs574604272	chr6:58513684-58513685	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs541970818	chr6:58513691-58513692	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs563390241	chr6:58513708-58513709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs531061255	chr6:58513712-58513713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs552693634	chr6:58513787-58513788	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs528221860	chr6:58513835-58513836	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs374927122	chr6:58518449-58518450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187532948	chr6:58518466-58518467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558875625	chr6:58518520-58518521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190072984	chr6:58518551-58518552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541022541	chr6:58518601-58518602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559491149	chr6:58518634-58518635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3121973	chr6:58518676-58518677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574431850	chr6:58518681-58518682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3121972	chr6:58518701-58518702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542071295	chr6:58518786-58518787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144971493	chr6:58518789-58518790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573083674	chr6:58518803-58518804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530997970	chr6:58518842-58518843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546131815	chr6:58518884-58518885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542130074	chr6:58518902-58518903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564439703	chr6:58518935-58518936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528470240	chr6:58518977-58518978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60599657	chr6:58518983-58518984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs182629578	chr6:58518987-58518988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3121969	chr6:58519036-58519037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9500121	chr6:58519083-58519084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs3121968	chr6:58519084-58519085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17092150	chr6:58519085-58519086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs544377366	chr6:58519098-58519099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569865623	chr6:58519107-58519108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3121967	chr6:58519112-58519113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9500122	chr6:58519123-58519124	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs373305034	chr6:58519178-58519179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377576618	chr6:58519199-58519200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558939698	chr6:58519215-58519216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201199184	chr6:58519218-58519219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199882311	chr6:58519221-58519222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397744017	chr6:58519222-58519223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188156421	chr6:58519242-58519243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533039518	chr6:58519257-58519258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534608851	chr6:58519286-58519287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539898864	chr6:58519329-58519330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552897650	chr6:58519331-58519332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200979919	chr6:58519343-58519344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370779356	chr6:58519359-58519360	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58518400-58519600	Enhancers	NHEK	skin
2	chr6:58519200-58520000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:58519600-58520200	Active TSS	NHEK	skin
4	chr6:58519800-58520200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:58520200-58524000	Weak transcription	NHEK	skin
6	chr6:58522000-58522200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:58524000-58525800	Enhancers	NHEK	skin
8	chr6:58591000-58591400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:58607000-58607400	Active TSS	Stomach Mucosa	stomach
10	chr6:58614800-58617800	Enhancers	NHEK	skin
11	chr6:58668600-58669200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:58684400-58685400	Enhancers	NHEK	skin
13	chr6:58748800-58750400	ZNF genes & repeats	Liver	Liver
14	chr6:58762800-58763200	ZNF genes & repeats	Liver	Liver
15	chr6:58764600-58765800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:58765200-58769400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:58768000-58771000	ZNF genes & repeats	Liver	Liver
18	chr6:58769400-58769800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:58769600-58770000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:58769800-58773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:58770000-58773400	Weak transcription	Aorta	Aorta
22	chr6:58770600-58770800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:58770800-58773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:58771000-58773400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:58771000-58773400	Weak transcription	Liver	Liver
26	chr6:58771200-58773400	Weak transcription	Adipose Nuclei	Adipose
27	chr6:58772600-58773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:58773400-58773600	Active TSS	Aorta	Aorta
29	chr6:58773400-58773600	Active TSS	Ovary	ovary
30	chr6:58773400-58773600	Active TSS	Psoas Muscle	Psoas
31	chr6:58773400-58774000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
32	chr6:58773400-58774000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
33	chr6:58773400-58774800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:58773400-58774800	ZNF genes & repeats	Brain Hippocampus Middle	brain
35	chr6:58773400-58774800	ZNF genes & repeats	Colon Smooth Muscle	Colon
36	chr6:58773400-58774800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
37	chr6:58773400-58774800	ZNF genes & repeats	Fetal Lung	lung
38	chr6:58773400-58774800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
39	chr6:58773400-58774800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr6:58773400-58774800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
41	chr6:58773400-58774800	ZNF genes & repeats	GM12878-XiMat	blood
42	chr6:58773400-58774800	ZNF genes & repeats	HUVEC	blood vessel
43	chr6:58773400-58775000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
44	chr6:58773400-58775000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:58773400-58775000	ZNF genes & repeats	Brain Anterior Caudate	brain
46	chr6:58773400-58775000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
47	chr6:58773400-58775000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:58773400-58775000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr6:58773400-58775000	ZNF genes & repeats	Dnd41	blood
50	chr6:58773400-58775200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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