Variant report

Variant	nsv1018244
Chromosome Location	chr6:460039-476395
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:474698..477221-chr6:477805..479723,2	K562	blood:
2	chr6:453677..456458-chr6:461551..464180,2	K562	blood:
3	chr6:454198..456749-chr6:458940..460781,2	K562	blood:
4	chr6:461019..462992-chr6:464087..466836,2	K562	blood:
5	chr6:452619..455304-chr6:464046..466915,2	K562	blood:
6	chr6:466967..469426-chr6:471037..473019,2	K562	blood:
7	chr6:467084..468601-chr6:470547..472837,2	MCF-7	breast:
8	chr6:466967..469426-chr6:471037..473019,2	K562	blood:
9	chr6:465774..468570-chr6:469900..472566,3	K562	blood:
10	chr6:467084..468601-chr6:470547..472837,2	MCF-7	breast:
11	chr6:461019..462992-chr6:464087..466836,2	K562	blood:
12	chr6:465774..468570-chr6:469900..472566,3	K562	blood:
13	chr6:328240..330031-chr6:473438..476214,2	MCF-7	breast:

No data

Extended variants
information (count: 1129 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1129 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539503752	chr6:460041-460042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530160137	chr6:460053-460054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192620311	chr6:460063-460064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569683260	chr6:460075-460076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200927193	chr6:460110-460111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183704516	chr6:460165-460166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534835762	chr6:460199-460200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572648096	chr6:460223-460224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370671183	chr6:460248-460249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200441341	chr6:460251-460252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551241076	chr6:460258-460259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534897100	chr6:460297-460298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11242899	chr6:460302-460303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs547128948	chr6:460342-460343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571250948	chr6:460357-460358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545887058	chr6:460360-460361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75620390	chr6:460370-460371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570433887	chr6:460380-460381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151333111	chr6:460394-460395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112236290	chr6:460422-460423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561830374	chr6:460428-460429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192579483	chr6:460439-460440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115749584	chr6:460447-460448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550106903	chr6:460481-460482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7762998	chr6:460498-460499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs57182179	chr6:460515-460516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535685027	chr6:460551-460552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374791395	chr6:460603-460604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111887041	chr6:460604-460605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61260031	chr6:460612-460613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549849878	chr6:460645-460646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569744632	chr6:460660-460661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184912266	chr6:460677-460678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549691546	chr6:460712-460713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2316795	chr6:460732-460733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535277828	chr6:460742-460743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377293126	chr6:460748-460749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536221723	chr6:460778-460779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578191615	chr6:460790-460791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77990171	chr6:460844-460845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556271646	chr6:460870-460871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7453129	chr6:460871-460872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189798188	chr6:460888-460889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1113387	chr6:460901-460902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1113388	chr6:460931-460932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572252468	chr6:460941-460942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541289544	chr6:460959-460960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563975961	chr6:460964-460965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181540691	chr6:460965-460966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371975260	chr6:460971-460972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:455400-466400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:459600-460200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:460000-462400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:462400-469000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:463200-463600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:463600-463800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:463600-463800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr6:463800-464000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr6:463800-464000	Bivalent Enhancer	Placenta	Placenta
10	chr6:463800-464200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:464000-465800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:465400-465800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr6:465600-466200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr6:465800-466200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:466000-466200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:466200-466800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:466400-467000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:466400-467800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:466800-471400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:467000-470600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:467200-467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:467600-467800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:467600-469000	Enhancers	GM12878-XiMat	blood
24	chr6:467800-468200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr6:467800-468200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:467800-468200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:467800-470600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:468200-473800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:468800-469000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr6:468800-469000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:468800-469600	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
32	chr6:468800-469800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:468800-469800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
34	chr6:469000-469200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr6:469000-469200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:469000-469600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:469000-469800	Weak transcription	GM12878-XiMat	blood
38	chr6:469000-475400	Weak transcription	Right Atrium	heart
39	chr6:469200-469400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:469400-469600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:469600-473200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:469800-471000	Enhancers	GM12878-XiMat	blood
43	chr6:470000-473400	Weak transcription	Thymus	Thymus
44	chr6:470200-470800	Enhancers	Primary B cells from peripheral blood	blood
45	chr6:470600-471000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:470600-471200	Enhancers	Fetal Thymus	thymus
47	chr6:470600-472000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:470800-471200	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr6:470800-472000	Enhancers	Primary B cells from cord blood	blood
50	chr6:471000-471400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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