Variant report

Variant	nsv528286
Chromosome Location	chr6:39019503-39060478
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:39054886..39057587-chr6:39057914..39060553,2	MCF-7	breast:
2	chr6:38940416..38941559-chr6:39059453..39060636,4	K562	blood:
3	chr6:38941129..38941714-chr6:39059120..39059717,2	MCF-7	breast:
4	chr6:39046271..39047893-chr6:39050344..39052466,2	K562	blood:
5	chr6:39059952..39062322-chr6:39081352..39083480,3	K562	blood:
6	chr6:39014216..39015762-chr6:39017423..39020213,2	K562	blood:
7	chr6:39035659..39037472-chr6:39041322..39043034,2	K562	blood:
8	chr6:38997151..38998027-chr6:39059643..39060342,2	MCF-7	breast:
9	chr6:38970479..38971603-chr6:39058514..39059664,3	K562	blood:
10	chr6:39049391..39052267-chr6:39080061..39083528,3	K562	blood:
11	chr6:38997318..38997990-chr6:39055855..39056407,2	MCF-7	breast:
12	chr6:39016886..39018824-chr6:39023068..39025617,2	MCF-7	breast:
13	chr6:39055895..39057214-chr6:39125035..39125985,4	MCF-7	breast:
14	chr6:39052982..39054673-chr6:39056335..39058628,2	K562	blood:
15	chr6:39032106..39033612-chr6:39039523..39041550,2	K562	blood:
16	chr6:39056188..39058332-chr6:39081788..39085534,3	MCF-7	breast:
17	chr6:39049293..39050891-chr6:39079605..39081561,2	K562	blood:
18	chr6:39016643..39019473-chr6:39022041..39023583,2	K562	blood:
19	chr6:39035659..39037472-chr6:39041322..39043034,2	K562	blood:
20	chr6:38940723..38941491-chr6:39055376..39056317,2	MCF-7	breast:
21	chr6:39056771..39059349-chr6:39083061..39085112,2	K562	blood:
22	chr6:39055835..39056584-chr6:39271011..39271689,3	K562	blood:
23	chr6:39040219..39042267-chr6:39046191..39048280,2	K562	blood:
24	chr6:39040219..39042267-chr6:39046191..39048280,2	K562	blood:
25	chr6:39032106..39033612-chr6:39039523..39041550,2	K562	blood:
26	chr6:39035655..39037159-chr6:39041534..39043180,2	K562	blood:
27	chr6:39042906..39044931-chr6:39052683..39055087,2	MCF-7	breast:
28	chr6:39035655..39037159-chr6:39041534..39043180,2	K562	blood:
29	chr6:39042906..39044931-chr6:39052683..39055087,2	MCF-7	breast:
30	chr6:39047800..39050333-chr6:39052277..39054288,2	K562	blood:
31	chr6:39046271..39047893-chr6:39050344..39052466,2	K562	blood:
32	chr6:39054886..39057587-chr6:39057914..39060553,2	MCF-7	breast:
33	chr6:38940785..38941562-chr6:39059873..39060576,3	MCF-7	breast:
34	chr6:39047800..39050333-chr6:39052277..39054288,2	K562	blood:
35	chr6:39014785..39017346-chr6:39021538..39023370,2	K562	blood:
36	chr6:39055500..39058719-chr6:39195179..39198658,3	K562	blood:
37	chr6:38964768..38966045-chr6:39059915..39060630,3	MCF-7	breast:
38	chr6:39052982..39054673-chr6:39056335..39058628,2	K562	blood:
39	chr6:39006048..39008440-chr6:39019617..39021203,2	K562	blood:
40	chr6:39025094..39027190-chr6:39031133..39033531,2	K562	blood:
41	chr6:39025094..39027190-chr6:39031133..39033531,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112167	chromatin interactions
ENSG00000164626	chromatin interactions
ENSG00000220556	chromatin interactions
ENSG00000112164	chromatin interactions

Extended variants
information (count: 1954 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs926674	chr6:39019503-39019504	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545888973	chr6:39019513-39019514	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369205931	chr6:39019531-39019532	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs114581681	chr6:39019605-39019606	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs2284795	chr6:39019617-39019618	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs71571359	chr6:39019651-39019652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3831828	chr6:39019658-39019659	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201933039	chr6:39019670-39019671	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201179669	chr6:39019671-39019672	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373949932	chr6:39019672-39019673	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11760106	chr6:39019674-39019675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71571360	chr6:39019677-39019678	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13220169	chr6:39019678-39019679	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs57473072	chr6:39019681-39019682	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565597815	chr6:39019700-39019701	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146209881	chr6:39019735-39019736	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145937816	chr6:39019770-39019771	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541423139	chr6:39019804-39019805	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139152905	chr6:39019814-39019815	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530086449	chr6:39019872-39019873	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549898985	chr6:39019892-39019893	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569783207	chr6:39019893-39019894	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12660306	chr6:39019914-39019915	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144048206	chr6:39019925-39019926	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186475279	chr6:39019930-39019931	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146597427	chr6:39019991-39019992	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547668056	chr6:39020022-39020023	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565497624	chr6:39020040-39020041	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527848359	chr6:39020043-39020044	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541360680	chr6:39020044-39020045	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189959260	chr6:39020066-39020067	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182191730	chr6:39020073-39020074	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556308235	chr6:39020088-39020089	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186272446	chr6:39020097-39020098	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539237632	chr6:39020104-39020105	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551805779	chr6:39020106-39020107	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561887544	chr6:39020195-39020196	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559152518	chr6:39020234-39020235	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572587814	chr6:39020332-39020333	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541405372	chr6:39020349-39020350	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561613201	chr6:39020364-39020365	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73414411	chr6:39020468-39020469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141056575	chr6:39020469-39020470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563446945	chr6:39020503-39020504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532431163	chr6:39020505-39020506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs149846164	chr6:39020507-39020508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145884053	chr6:39020512-39020513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2268657	chr6:39020542-39020543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs527460208	chr6:39020567-39020568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372731677	chr6:39020573-39020574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39016000-39020000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:39017200-39030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:39017400-39019800	Flanking Active TSS	Fetal Heart	heart
4	chr6:39017400-39020200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:39017800-39020400	Enhancers	HMEC	breast
6	chr6:39017800-39020600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:39017800-39021000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:39017800-39026400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:39018200-39020000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:39018400-39019600	Enhancers	NHEK	skin
11	chr6:39018800-39020000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:39018800-39020000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:39018800-39020000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:39018800-39020400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:39018800-39023400	Enhancers	Pancreas	Pancrea
16	chr6:39019000-39019600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:39019000-39021400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:39019200-39019600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:39019200-39019600	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:39019200-39019600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:39019200-39019600	Enhancers	Right Atrium	heart
22	chr6:39019200-39019800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:39019200-39019800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr6:39019200-39019800	Enhancers	Lung	lung
25	chr6:39019200-39019800	Enhancers	Right Ventricle	heart
26	chr6:39019200-39020000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr6:39019200-39020000	Flanking Active TSS	Dnd41	blood
28	chr6:39019200-39020000	Enhancers	GM12878-XiMat	blood
29	chr6:39019200-39020200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:39019200-39020200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:39019400-39019600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:39019400-39019600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:39019400-39019800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr6:39019400-39019800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:39019400-39022200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:39019400-39022200	Weak transcription	Left Ventricle	heart
37	chr6:39019600-39019800	Flanking Active TSS	NHEK	skin
38	chr6:39019600-39020600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:39019600-39023600	Weak transcription	Right Atrium	heart
40	chr6:39019800-39020000	Enhancers	NHEK	skin
41	chr6:39019800-39020800	Weak transcription	Fetal Heart	heart
42	chr6:39019800-39020800	Weak transcription	Lung	lung
43	chr6:39019800-39022000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:39019800-39023800	Weak transcription	Right Ventricle	heart
45	chr6:39020000-39020400	Enhancers	Dnd41	blood
46	chr6:39020000-39022200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:39020000-39024000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr6:39020200-39021600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:39020200-39021800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:39020400-39025000	Weak transcription	Dnd41	blood

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