Variant report

Variant	nsv600885
Chromosome Location	chr6:5424762-5455161
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:5424951..5427870-chr6:5732837..5734922,2	MCF-7	breast:
2	chr6:5445214..5446148-chr7:141145714..141146573,2	MCF-7	breast:
3	chr6:5431424..5433341-chr6:5434266..5436505,3	K562	blood:
4	chr6:5422015..5424265-chr6:5433420..5435571,2	K562	blood:
5	chr6:5455034..5457596-chr6:5459159..5460952,3	K562	blood:
6	chr6:5434559..5437034-chr6:5438817..5440512,2	MCF-7	breast:
7	chr6:5431881..5436604-chr6:5436753..5441713,4	K562	blood:
8	chr6:5435025..5437230-chr6:5438877..5440438,2	MCF-7	breast:
9	chr6:5431881..5436604-chr6:5436753..5441713,4	K562	blood:
10	chr6:5431424..5433341-chr6:5434266..5436505,3	K562	blood:
11	chr6:5438413..5441149-chr6:5444124..5446462,2	K562	blood:
12	chr6:5434559..5437034-chr6:5438817..5440512,2	MCF-7	breast:
13	chr6:5438413..5441149-chr6:5444124..5446462,2	K562	blood:
14	chr6:5435025..5437230-chr6:5438877..5440438,2	MCF-7	breast:
15	chr6:5451514..5453139-chr6:5455554..5457510,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYRM4-3	chr6:5452701-5452990	ENSG00000269985.1
2	lnc-LYRM4-3	chr6:5451916-5452990	ENSG00000269985.1

No data

Extended variants
information (count: 1261 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1261 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11752854	chr6:5424762-5424763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140574098	chr6:5424767-5424768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570449848	chr6:5424783-5424784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181202649	chr6:5424784-5424785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544130092	chr6:5424848-5424849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149329697	chr6:5424877-5424878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78391320	chr6:5424949-5424950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148453027	chr6:5424976-5424977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557130888	chr6:5425091-5425092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78517203	chr6:5425153-5425154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570773172	chr6:5425155-5425156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142641364	chr6:5425181-5425182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573607256	chr6:5425245-5425246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539343499	chr6:5425316-5425317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559405543	chr6:5425317-5425318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146440321	chr6:5425371-5425372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139929876	chr6:5425397-5425398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541808437	chr6:5425403-5425404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563280923	chr6:5425416-5425417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186927743	chr6:5425423-5425424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139871505	chr6:5425432-5425433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529215373	chr6:5425441-5425442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570287979	chr6:5425442-5425443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71759305	chr6:5425463-5425464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370308349	chr6:5425464-5425465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143130883	chr6:5425501-5425502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555402262	chr6:5425512-5425513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191814851	chr6:5425545-5425546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181469657	chr6:5425561-5425562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146672725	chr6:5425569-5425570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116695665	chr6:5425582-5425583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539897855	chr6:5425648-5425649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73350601	chr6:5425691-5425692	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs187423018	chr6:5425720-5425721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563269554	chr6:5425743-5425744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150547822	chr6:5425744-5425745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113246288	chr6:5425763-5425764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534504803	chr6:5425765-5425766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556047397	chr6:5425771-5425772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9378947	chr6:5425772-5425773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541495618	chr6:5425773-5425774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563273170	chr6:5425808-5425809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191853682	chr6:5425809-5425810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551961222	chr6:5425829-5425830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182278851	chr6:5425853-5425854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563950948	chr6:5425870-5425871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2503830	chr6:5425906-5425907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140125300	chr6:5425913-5425914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77097978	chr6:5425917-5425918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2432757	chr6:5425949-5425950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5374400-5431400	Weak transcription	Primary B cells from cord blood	blood
2	chr6:5395400-5431200	Weak transcription	Left Ventricle	heart
3	chr6:5399200-5440000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:5403200-5439800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:5403400-5445200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:5403600-5437600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:5404800-5428200	Weak transcription	Lung	lung
8	chr6:5405200-5431000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:5405400-5439800	Weak transcription	Pancreas	Pancrea
10	chr6:5406600-5431400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:5407000-5431000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:5407400-5439600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:5408600-5431200	Weak transcription	Gastric	stomach
14	chr6:5410200-5431200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:5410400-5427600	Weak transcription	Thymus	Thymus
16	chr6:5411600-5431200	Weak transcription	HepG2	liver
17	chr6:5411600-5432800	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:5412800-5425800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:5412800-5431200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:5412800-5437000	Weak transcription	Ovary	ovary
21	chr6:5412800-5439400	Weak transcription	Spleen	Spleen
22	chr6:5413400-5431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:5413400-5433200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:5413400-5435200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:5413400-5442800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:5417000-5440400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:5419000-5432800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:5420200-5436200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:5421200-5435400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:5421400-5432800	Weak transcription	Aorta	Aorta
31	chr6:5421600-5425600	Weak transcription	Dnd41	blood
32	chr6:5421600-5431200	Weak transcription	Fetal Intestine Large	intestine
33	chr6:5421600-5433000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:5421600-5433000	Weak transcription	Fetal Stomach	stomach
35	chr6:5421600-5455000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:5421600-5455400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:5421600-5457400	Weak transcription	Fetal Intestine Small	intestine
38	chr6:5422000-5425800	Weak transcription	Primary T cells from cord blood	blood
39	chr6:5422600-5432800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:5422800-5444000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr6:5423000-5427600	Weak transcription	GM12878-XiMat	blood
42	chr6:5423000-5431200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:5423000-5436200	Weak transcription	NHLF	lung
44	chr6:5423800-5425000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:5424000-5435000	Weak transcription	Adipose Nuclei	Adipose
46	chr6:5424400-5440000	Weak transcription	Small Intestine	intestine
47	chr6:5424600-5428400	Enhancers	Fetal Thymus	thymus
48	chr6:5424800-5425000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr6:5425000-5425200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr6:5425000-5426200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links