Variant report

Variant	nsv519907
Chromosome Location	chr6:39032415-39055012
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:39035655..39037159-chr6:39041534..39043180,2	K562	blood:
2	chr6:39040219..39042267-chr6:39046191..39048280,2	K562	blood:
3	chr6:39035659..39037472-chr6:39041322..39043034,2	K562	blood:
4	chr6:39042906..39044931-chr6:39052683..39055087,2	MCF-7	breast:
5	chr6:39046271..39047893-chr6:39050344..39052466,2	K562	blood:
6	chr6:39032106..39033612-chr6:39039523..39041550,2	K562	blood:
7	chr6:39035655..39037159-chr6:39041534..39043180,2	K562	blood:
8	chr6:39042906..39044931-chr6:39052683..39055087,2	MCF-7	breast:
9	chr6:39047800..39050333-chr6:39052277..39054288,2	K562	blood:
10	chr6:39025094..39027190-chr6:39031133..39033531,2	K562	blood:
11	chr6:39052982..39054673-chr6:39056335..39058628,2	K562	blood:
12	chr6:39047800..39050333-chr6:39052277..39054288,2	K562	blood:
13	chr6:39032106..39033612-chr6:39039523..39041550,2	K562	blood:
14	chr6:39054886..39057587-chr6:39057914..39060553,2	MCF-7	breast:
15	chr6:39040219..39042267-chr6:39046191..39048280,2	K562	blood:
16	chr6:39035659..39037472-chr6:39041322..39043034,2	K562	blood:
17	chr6:39049293..39050891-chr6:39079605..39081561,2	K562	blood:
18	chr6:39049391..39052267-chr6:39080061..39083528,3	K562	blood:
19	chr6:39046271..39047893-chr6:39050344..39052466,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112167	chromatin interactions

Extended variants
information (count: 1155 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1155 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs910170	chr6:39032415-39032416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376762301	chr6:39032423-39032424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565185505	chr6:39032482-39032483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572408655	chr6:39032501-39032502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs874900	chr6:39032537-39032538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560893288	chr6:39032540-39032541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3892645	chr6:39032549-39032550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs874902	chr6:39032553-39032554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552989664	chr6:39032623-39032624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374137912	chr6:39032629-39032630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563207924	chr6:39032695-39032696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532742349	chr6:39032700-39032701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2254341	chr6:39032715-39032716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565932723	chr6:39032758-39032759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148514479	chr6:39032798-39032799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142860724	chr6:39032829-39032830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568459949	chr6:39032830-39032831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2254336	chr6:39032835-39032836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552520096	chr6:39032879-39032880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370490271	chr6:39032927-39032928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184813856	chr6:39032928-39032929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116006141	chr6:39033002-39033003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539929105	chr6:39033013-39033014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558832603	chr6:39033063-39033064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs910169	chr6:39033065-39033066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs910168	chr6:39033078-39033079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10305451	chr6:39033085-39033086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs910167	chr6:39033131-39033132	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189420535	chr6:39033145-39033146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs910166	chr6:39033168-39033169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377397550	chr6:39033172-39033173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563404759	chr6:39033176-39033177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs910165	chr6:39033180-39033181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs545472810	chr6:39033222-39033223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201159034	chr6:39033224-39033225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11267090	chr6:39033231-39033232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559555676	chr6:39033245-39033246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10305452	chr6:39033246-39033247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs910164	chr6:39033252-39033253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138549733	chr6:39033314-39033315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181082561	chr6:39033324-39033325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112949135	chr6:39033381-39033382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140336900	chr6:39033399-39033400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570820230	chr6:39033400-39033401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539965303	chr6:39033416-39033417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs910163	chr6:39033420-39033421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs910162	chr6:39033427-39033428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200404012	chr6:39033437-39033438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201399990	chr6:39033445-39033446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202127713	chr6:39033457-39033458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21510904	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39021200-39072000	Weak transcription	Gastric	stomach
2	chr6:39022400-39041600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:39024200-39057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:39026800-39032600	Enhancers	Fetal Intestine Small	intestine
5	chr6:39027200-39034000	Weak transcription	Dnd41	blood
6	chr6:39027200-39036200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:39027400-39073000	Weak transcription	Pancreas	Pancrea
8	chr6:39028000-39036000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:39028600-39032800	Enhancers	Fetal Intestine Large	intestine
10	chr6:39030400-39044800	Weak transcription	Right Atrium	heart
11	chr6:39031400-39034000	Enhancers	Fetal Heart	heart
12	chr6:39032000-39033600	Enhancers	Right Ventricle	heart
13	chr6:39033600-39033800	Enhancers	Left Ventricle	heart
14	chr6:39033600-39052200	Weak transcription	Right Ventricle	heart
15	chr6:39034000-39042400	Weak transcription	Fetal Heart	heart
16	chr6:39036000-39036600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:39036200-39036400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:39036400-39050200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:39036600-39040400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:39039200-39040800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:39040000-39040400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:39040200-39041800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:39040200-39042000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:39040400-39043200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:39040800-39043800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:39041600-39043200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:39042000-39043000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:39042400-39045600	Enhancers	Fetal Heart	heart
29	chr6:39042400-39045800	Enhancers	GM12878-XiMat	blood
30	chr6:39042800-39043400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:39042800-39043400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:39042800-39043400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:39043000-39043200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:39043000-39043400	Enhancers	Left Ventricle	heart
35	chr6:39043200-39050200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:39043400-39044400	Weak transcription	Left Ventricle	heart
37	chr6:39043400-39082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:39043800-39044000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:39044400-39045600	Enhancers	Left Ventricle	heart
40	chr6:39044800-39045200	Enhancers	Right Atrium	heart
41	chr6:39045200-39045600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:39045200-39054000	Weak transcription	Right Atrium	heart
43	chr6:39045600-39051600	Weak transcription	Fetal Heart	heart
44	chr6:39047200-39047400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:39047400-39053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:39050000-39050200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:39050200-39050400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:39050200-39050400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:39050200-39050600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:39050200-39050800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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