Variant report

Variant	nsv538077
Chromosome Location	chr6:558050-627098
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:584075..586202-chr6:608461..610538,2	K562	blood:
2	chr6:619954..621496-chr6:718059..720495,2	MCF-7	breast:
3	chr6:625334..627439-chr6:632624..634410,2	MCF-7	breast:
4	chr6:617342..618083-chr6:672782..673313,2	MCF-7	breast:
5	chr6:609787..613074-chr6:613540..618005,4	MCF-7	breast:
6	chr6:564541..566656-chr6:573617..576333,2	K562	blood:
7	chr6:623156..624829-chr6:679027..680923,2	K562	blood:
8	chr6:611893..615161-chr6:617964..622406,3	K562	blood:
9	chr6:596542..599419-chr6:608379..609927,2	K562	blood:
10	chr6:618464..621931-chr6:691886..695060,3	K562	blood:
11	chr6:188501..189288-chr6:558016..558846,2	MCF-7	breast:
12	chr6:561412..564279-chr6:564470..566493,2	K562	blood:
13	chr6:599375..603214-chr6:604015..608205,4	K562	blood:
14	chr6:609787..613074-chr6:613540..618005,4	MCF-7	breast:
15	chr6:599375..603214-chr6:604015..608205,4	K562	blood:
16	chr6:624661..625172-chr6:786691..787617,2	MCF-7	breast:
17	chr6:188655..189690-chr6:579041..579935,3	MCF-7	breast:
18	chr6:619154..621856-chr6:622279..624894,3	K562	blood:
19	chr6:593150..593833-chr6:1381694..1382339,2	K562	blood:
20	chr6:623271..625208-chr6:626247..630210,3	K562	blood:
21	chr6:623271..625208-chr6:626247..630210,3	K562	blood:
22	chr6:596542..599419-chr6:608379..609927,2	K562	blood:
23	chr6:584075..586202-chr6:608461..610538,2	K562	blood:
24	chr6:592897..593807-chr6:786329..787484,3	MCF-7	breast:
25	chr6:572795..574356-chr6:600807..603127,2	K562	blood:
26	chr6:613098..619498-chr6:626178..629701,5	K562	blood:
27	chr6:619154..621856-chr6:622279..624894,3	K562	blood:
28	chr6:592882..593441-chr6:722344..723222,2	K562	blood:
29	chr6:592838..593830-chr6:1436398..1437155,4	K562	blood:
30	chr6:572795..574356-chr6:600807..603127,2	K562	blood:
31	chr6:607796..609967-chr6:617130..619921,2	K562	blood:
32	chr6:624358..625521-chr6:686292..687228,3	MCF-7	breast:
33	chr6:592915..593793-chr6:786656..787524,4	K562	blood:
34	chr6:561412..564279-chr6:564470..566493,2	K562	blood:
35	chr6:626086..627801-chr6:630563..632066,2	MCF-7	breast:
36	chr6:603418..606022-chr6:656235..658893,2	K562	blood:
37	chr6:607796..609967-chr6:617130..619921,2	K562	blood:
38	chr6:618738..621078-chr6:631817..634486,2	MCF-7	breast:
39	chr6:564541..566656-chr6:573617..576333,2	K562	blood:
40	chr6:611893..615161-chr6:617964..622406,3	K562	blood:
41	chr6:617278..618123-chr6:686204..687158,5	MCF-7	breast:
42	chr6:617178..618098-chr6:721795..722615,3	MCF-7	breast:
43	chr6:552570..555161-chr6:558729..560473,2	K562	blood:
44	chr6:623458..625362-chr6:681121..682847,2	K562	blood:
45	chr6:603956..607563-chr6:691398..693346,3	K562	blood:
46	chr6:613098..619498-chr6:626178..629701,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188996	chromatin interactions
ENSG00000112685	chromatin interactions

Extended variants
information (count: 2939 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2939 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527570213	chr6:558079-558080	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547405336	chr6:558083-558084	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564077764	chr6:558124-558125	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs532778392	chr6:558185-558186	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs549422268	chr6:558209-558210	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535905193	chr6:558285-558286	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528999349	chr6:558324-558325	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569413509	chr6:558331-558332	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535217948	chr6:558342-558343	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374398066	chr6:558409-558410	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549544378	chr6:558480-558481	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548775388	chr6:558506-558507	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372237572	chr6:558539-558540	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11965200	chr6:558572-558573	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566265828	chr6:558642-558643	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558183628	chr6:558716-558717	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185664946	chr6:558762-558763	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578041949	chr6:558781-558782	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537447603	chr6:558798-558799	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563720152	chr6:558818-558819	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191811670	chr6:558819-558820	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9378926	chr6:558820-558821	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs61385371	chr6:558821-558822	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571604730	chr6:558827-558828	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142236070	chr6:558837-558838	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542791675	chr6:558989-558990	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537077251	chr6:558990-558991	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183586915	chr6:559011-559012	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57427937	chr6:559029-559030	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556921688	chr6:559031-559032	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572166542	chr6:559078-559079	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541283302	chr6:559084-559085	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3799303	chr6:559101-559102	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532718416	chr6:559149-559150	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188956212	chr6:559270-559271	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562984394	chr6:559285-559286	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114687056	chr6:559306-559307	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372088501	chr6:559321-559322	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548832919	chr6:559376-559377	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140504505	chr6:559383-559384	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17754727	chr6:559413-559414	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs528688281	chr6:559419-559420	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75527470	chr6:559420-559421	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571969160	chr6:559459-559460	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537783158	chr6:559507-559508	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114349036	chr6:559509-559510	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34586763	chr6:559551-559552	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193118087	chr6:559553-559554	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116415804	chr6:559563-559564	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371845327	chr6:559568-559569	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2379 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:517200-574400	Weak transcription	Stomach Mucosa	stomach
2	chr6:521000-564000	Weak transcription	A549	lung
3	chr6:522600-559200	Weak transcription	K562	blood
4	chr6:529000-564200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:531000-568000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:531200-564000	Weak transcription	Fetal Brain Male	brain
7	chr6:541600-564000	Weak transcription	NHDF-Ad	bronchial
8	chr6:541800-564000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:542800-564800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:543600-559600	Weak transcription	Fetal Brain Female	brain
11	chr6:543800-562000	Weak transcription	Brain Germinal Matrix	brain
12	chr6:544200-559400	Weak transcription	Small Intestine	intestine
13	chr6:544400-561800	Weak transcription	GM12878-XiMat	blood
14	chr6:546600-571600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:549200-558400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:549400-559400	Weak transcription	Brain Angular Gyrus	brain
17	chr6:549400-563800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:549400-567800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:549600-574000	Weak transcription	Fetal Kidney	kidney
20	chr6:550200-568200	Weak transcription	Right Atrium	heart
21	chr6:550400-559400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:550600-558200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:550600-565000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:550600-565200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:550800-564800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr6:551400-582400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:551800-561200	Weak transcription	HMEC	breast
28	chr6:551800-585200	Weak transcription	Fetal Heart	heart
29	chr6:552200-561800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:552200-561800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:552200-564000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:552200-564400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:552200-564400	Strong transcription	Placenta	Placenta
34	chr6:552200-564800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:552400-561800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:552400-568200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:552400-575000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:552600-573400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:552800-558200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:552800-564000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:553000-558400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr6:553000-559600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:553000-559600	Strong transcription	Dnd41	blood
44	chr6:553000-560600	Strong transcription	Liver	Liver
45	chr6:553200-564800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:553200-565200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:553400-558200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:553400-559400	Weak transcription	Hela-S3	cervix
49	chr6:553400-559800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:553400-564800	Strong transcription	Monocytes-CD14+_RO01746	blood

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