Variant report

Variant	nsv527420
Chromosome Location	chr6:14064273-14088302
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13874090..13874874-chr6:14066795..14067659,3	K562	blood:
2	chr6:13905251..13907467-chr6:14064136..14067603,3	K562	blood:
3	chr6:13873864..13874605-chr6:14067125..14067679,2	MCF-7	breast:
4	chr6:14032236..14034606-chr6:14064041..14066721,2	MCF-7	breast:
5	chr6:13913671..13914488-chr6:14066744..14067435,2	K562	blood:
6	chr6:13574233..13574890-chr6:14066736..14067302,2	K562	blood:
7	chr6:13873516..13875377-chr6:14063760..14065497,2	K562	blood:
8	chr6:14068325..14070930-chr6:14075054..14076829,2	MCF-7	breast:
9	chr6:14085568..14087861-chr6:14090105..14091859,3	MCF-7	breast:
10	chr6:14068325..14070930-chr6:14075054..14076829,2	MCF-7	breast:
11	chr6:13978505..13980656-chr6:14085933..14087508,2	K562	blood:
12	chr6:13908813..13909708-chr6:14066991..14067674,5	MCF-7	breast:
13	chr6:13908811..13910457-chr6:14066114..14067720,21	K562	blood:
14	chr6:14066971..14067754-chr6:14132179..14133119,2	K562	blood:
15	chr6:13923475..13926107-chr6:14065696..14068522,2	K562	blood:
16	chr6:14085656..14087271-chr6:14091760..14094440,2	K562	blood:
17	chr6:13794837..13795959-chr6:14066666..14067719,5	K562	blood:
18	chr6:13912942..13915591-chr6:14063710..14065715,2	K562	blood:
19	chr6:14081657..14083215-chr6:14155211..14157901,2	MCF-7	breast:
20	chr6:13795446..13795955-chr6:14066816..14067709,2	MCF-7	breast:
21	chr6:14059223..14061375-chr6:14065918..14068718,2	K562	blood:
22	chr6:13981326..13983520-chr6:14085737..14087661,2	K562	blood:
23	chr6:14060467..14062418-chr6:14066735..14068509,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124523	chromatin interactions
ENSG00000180537	chromatin interactions
ENSG00000238987	chromatin interactions

Extended variants
information (count: 950 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:950 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9476476	chr6:14064273-14064274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575235323	chr6:14064311-14064312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549182820	chr6:14064314-14064315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146913816	chr6:14064353-14064354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552534097	chr6:14064364-14064365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564497951	chr6:14064408-14064409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532340642	chr6:14064423-14064424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193087779	chr6:14064429-14064430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114366752	chr6:14064446-14064447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535738774	chr6:14064498-14064499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs5874454	chr6:14064499-14064500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544366096	chr6:14064509-14064510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150134469	chr6:14064510-14064511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184738050	chr6:14064520-14064521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548318326	chr6:14064538-14064539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568117461	chr6:14064543-14064544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370994973	chr6:14064549-14064550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373537018	chr6:14064551-14064552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139210352	chr6:14064552-14064553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187545992	chr6:14064669-14064670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141523199	chr6:14064670-14064671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539762784	chr6:14064745-14064746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553595088	chr6:14064795-14064796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142567187	chr6:14064814-14064815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191366179	chr6:14064826-14064827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116739295	chr6:14064830-14064831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543986183	chr6:14064837-14064838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555537091	chr6:14064897-14064898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563678153	chr6:14064984-14064985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529368236	chr6:14065009-14065010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575376023	chr6:14065022-14065023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544678908	chr6:14065036-14065037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565920880	chr6:14065045-14065046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549765904	chr6:14065047-14065048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150312655	chr6:14065072-14065073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545796610	chr6:14065088-14065089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs137977254	chr6:14065097-14065098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183495825	chr6:14065106-14065107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9382936	chr6:14065118-14065119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs189383327	chr6:14065128-14065129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530547060	chr6:14065150-14065151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6940062	chr6:14065155-14065156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs192756535	chr6:14065156-14065157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9476477	chr6:14065168-14065169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs546981792	chr6:14065192-14065193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10456756	chr6:14065232-14065233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9476478	chr6:14065237-14065238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs9476479	chr6:14065276-14065277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550727203	chr6:14065324-14065325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569088100	chr6:14065338-14065339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14061400-14065600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:14061400-14066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:14061400-14067000	Weak transcription	HMEC	breast
4	chr6:14061600-14065600	Weak transcription	Hela-S3	cervix
5	chr6:14065600-14065800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:14065600-14065800	Enhancers	Hela-S3	cervix
7	chr6:14065600-14066000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr6:14065800-14066600	Weak transcription	Hela-S3	cervix
9	chr6:14065800-14068200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:14066000-14069400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:14066600-14066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:14066600-14068400	Enhancers	Hela-S3	cervix
13	chr6:14066800-14067200	Enhancers	NHEK	skin
14	chr6:14066800-14067600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:14066800-14068200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:14066800-14068600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:14067000-14067200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:14067000-14067200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:14067000-14067200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:14067000-14067200	Enhancers	Ovary	ovary
21	chr6:14067000-14067200	Enhancers	NHDF-Ad	bronchial
22	chr6:14067000-14067400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:14067000-14067400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:14067000-14067400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr6:14067000-14067400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:14067000-14067600	Enhancers	Fetal Brain Male	brain
27	chr6:14067000-14067800	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:14067000-14068000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:14067000-14068000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:14067000-14068600	Enhancers	NH-A	brain
31	chr6:14067000-14069000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:14067000-14069200	Enhancers	HMEC	breast
33	chr6:14067200-14067400	Enhancers	Fetal Kidney	kidney
34	chr6:14067200-14067800	Enhancers	Osteobl	bone
35	chr6:14067200-14068000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:14067200-14068200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:14067200-14068200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:14067200-14068200	Weak transcription	NHDF-Ad	bronchial
39	chr6:14067200-14068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:14067200-14069000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:14067200-14074800	Weak transcription	NHEK	skin
42	chr6:14067200-14075200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:14067400-14067600	Enhancers	Primary B cells from cord blood	blood
44	chr6:14067400-14067800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:14067400-14067800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:14067400-14068400	Enhancers	GM12878-XiMat	blood
47	chr6:14067800-14068400	Enhancers	Fetal Intestine Large	intestine
48	chr6:14067800-14068600	Flanking Active TSS	Osteobl	bone
49	chr6:14067800-14068800	Enhancers	HSMM	muscle
50	chr6:14067800-14069000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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