Variant report

Variant	nsv981355
Chromosome Location	chr6:4455801-4466820
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4465798..4468788-chr6:4591118..4593386,2	MCF-7	breast:
2	chr6:4457494..4459250-chr6:4462928..4465436,2	MCF-7	breast:
3	chr6:4458091..4459630-chr6:4459877..4462370,2	MCF-7	breast:
4	chr6:4457494..4459250-chr6:4462928..4465436,2	MCF-7	breast:
5	chr6:4365852..4368376-chr6:4465065..4467160,2	MCF-7	breast:
6	chr6:4458091..4459630-chr6:4459877..4462370,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL-3	chr6:4466645-4466838	XLOC_005140

No data

Extended variants
information (count: 407 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375350955	chr6:4455839-4455840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76422209	chr6:4455842-4455843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139949562	chr6:4455902-4455903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61451766	chr6:4455925-4455926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188409774	chr6:4455948-4455949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539222891	chr6:4455954-4455955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76894919	chr6:4455973-4455974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113855374	chr6:4455995-4455996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537973216	chr6:4456012-4456013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554670325	chr6:4456016-4456017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78888400	chr6:4456017-4456018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540268179	chr6:4456100-4456101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75379474	chr6:4456103-4456104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192132477	chr6:4456127-4456128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545941225	chr6:4456135-4456136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199513304	chr6:4456142-4456143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562557099	chr6:4456149-4456150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4959980	chr6:4456168-4456169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs541540300	chr6:4456220-4456221	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs369580324	chr6:4456234-4456235	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs576722714	chr6:4456249-4456250	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs72850004	chr6:4456267-4456268	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527270039	chr6:4456273-4456274	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs547465433	chr6:4456278-4456279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs567125775	chr6:4456295-4456296	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs144208740	chr6:4456355-4456356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7761922	chr6:4456369-4456370	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148718144	chr6:4456394-4456395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184975058	chr6:4456396-4456397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs1265300	chr6:4456400-4456401	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142298113	chr6:4456412-4456413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561894148	chr6:4456478-4456479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151007512	chr6:4456483-4456484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139989179	chr6:4456500-4456501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577032710	chr6:4456565-4456566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190811879	chr6:4456571-4456572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79029204	chr6:4456578-4456579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143351024	chr6:4456609-4456610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376606045	chr6:4456618-4456619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1265299	chr6:4456650-4456651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146731605	chr6:4456708-4456709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540988151	chr6:4456732-4456733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140269119	chr6:4456733-4456734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553935548	chr6:4456777-4456778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552578262	chr6:4456815-4456816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564418218	chr6:4456878-4456879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150325356	chr6:4456967-4456968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182049625	chr6:4456992-4456993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548376616	chr6:4457044-4457045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75702886	chr6:4457077-4457078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	21364760	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

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4442800-4459000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:4454200-4457600	Weak transcription	Placenta	Placenta
3	chr6:4456200-4456400	ZNF genes & repeats	Left Ventricle	heart
4	chr6:4456400-4459200	Weak transcription	Left Ventricle	heart
5	chr6:4457400-4458000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:4457600-4457800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:4457800-4458000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:4457800-4458000	Enhancers	Placenta	Placenta
9	chr6:4457800-4460400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:4458000-4459000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:4458000-4459000	Weak transcription	Placenta	Placenta
12	chr6:4458000-4459200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:4458800-4461000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:4458800-4461600	Enhancers	HMEC	breast
15	chr6:4459000-4459400	Bivalent Enhancer	K562	blood
16	chr6:4459000-4459800	Enhancers	A549	lung
17	chr6:4459000-4460000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:4459000-4460200	Enhancers	HSMMtube	muscle
19	chr6:4459000-4460200	Enhancers	NHLF	lung
20	chr6:4459000-4460400	Enhancers	Right Ventricle	heart
21	chr6:4459000-4460600	Enhancers	Hela-S3	cervix
22	chr6:4459000-4460600	Enhancers	HUVEC	blood vessel
23	chr6:4459000-4461000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:4459000-4461000	Enhancers	Right Atrium	heart
25	chr6:4459000-4461000	Enhancers	NHDF-Ad	bronchial
26	chr6:4459000-4461200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:4459000-4461200	Enhancers	NHEK	skin
28	chr6:4459000-4461400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:4459000-4461400	Enhancers	Placenta	Placenta
30	chr6:4459000-4461600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:4459000-4461600	Enhancers	HSMM	muscle
32	chr6:4459000-4461800	Enhancers	NH-A	brain
33	chr6:4459200-4459800	Enhancers	Osteobl	bone
34	chr6:4459200-4460000	Enhancers	Lung	lung
35	chr6:4459200-4460200	Enhancers	Stomach Smooth Muscle	stomach
36	chr6:4459200-4460400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:4459200-4460400	Weak transcription	Brain Germinal Matrix	brain
38	chr6:4459200-4460400	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:4459200-4460600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:4459200-4461000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:4459200-4461000	Enhancers	Fetal Muscle Trunk	muscle
42	chr6:4459200-4461400	Enhancers	Esophagus	oesophagus
43	chr6:4459200-4461400	Enhancers	Left Ventricle	heart
44	chr6:4459200-4461400	Enhancers	Psoas Muscle	Psoas
45	chr6:4459200-4461600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:4459200-4462200	Enhancers	Fetal Muscle Leg	muscle
47	chr6:4459200-4462200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:4459400-4459600	Enhancers	Spleen	Spleen
49	chr6:4459400-4459800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:4459400-4460000	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links