Variant report

Variant	nsv511851
Chromosome Location	chr6:14743396-14745783
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:14740809..14742542-chr6:14742789..14745610,2	K562	blood:
2	chr6:14726660..14728814-chr6:14743224..14745170,2	MCF-7	breast:
3	chr6:14742689..14745266-chr6:15089259..15092488,3	MCF-7	breast:
4	chr6:14733688..14736163-chr6:14741520..14743474,2	K562	blood:
5	chr6:14689204..14691508-chr6:14742647..14744690,2	K562	blood:
6	chr6:14744452..14746852-chr6:14757567..14759305,2	K562	blood:
7	chr6:14742305..14744752-chr6:15222484..15225143,3	MCF-7	breast:
8	chr6:14723271..14725963-chr6:14742702..14744914,2	MCF-7	breast:
9	chr6:14744177..14745935-chr6:14757956..14760558,2	MCF-7	breast:
10	chr6:14741983..14744344-chr6:15066073..15067702,2	MCF-7	breast:
11	chr1:144533874..144534529-chr6:14744077..14744583,2	HCT-116	colon:
12	chr6:14739993..14742172-chr6:14742805..14745724,2	MCF-7	breast:
13	chr6:14743112..14746025-chr6:14761526..14763688,5	MCF-7	breast:
14	chr6:14736458..14739208-chr6:14742819..14744601,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234261	chromatin interactions
ENSG00000201699	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532735325	chr6:14743407-14743408	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552768736	chr6:14743428-14743429	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143955598	chr6:14743445-14743446	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186511553	chr6:14743492-14743493	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369858166	chr6:14743513-14743514	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146425137	chr6:14743514-14743515	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4715922	chr6:14743537-14743538	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191734350	chr6:14743550-14743551	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529880000	chr6:14743558-14743559	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530469775	chr6:14743581-14743582	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550241468	chr6:14743591-14743592	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369504032	chr6:14743606-14743607	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373670259	chr6:14743607-14743608	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376729375	chr6:14743608-14743609	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34809235	chr6:14743609-14743610	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs397692687	chr6:14743614-14743615	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570247445	chr6:14743655-14743656	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139602851	chr6:14743682-14743683	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369287412	chr6:14743715-14743716	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34448476	chr6:14743749-14743750	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552866087	chr6:14743755-14743756	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9476648	chr6:14743783-14743784	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536231841	chr6:14743859-14743860	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535350515	chr6:14743896-14743897	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546223079	chr6:14743936-14743937	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7766310	chr6:14743995-14743996	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181753288	chr6:14744008-14744009	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557405677	chr6:14744011-14744012	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577382597	chr6:14744014-14744015	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546281216	chr6:14744050-14744051	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538611641	chr6:14744057-14744058	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559649840	chr6:14744095-14744096	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs145651932	chr6:14744111-14744112	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs552139389	chr6:14744117-14744118	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs542155851	chr6:14744123-14744124	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs16875631	chr6:14744125-14744126	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs530410027	chr6:14744209-14744210	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537335701	chr6:14744231-14744232	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs9476649	chr6:14744232-14744233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7766793	chr6:14744266-14744267	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2500077	chr6:14744343-14744344	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546686299	chr6:14744370-14744371	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs34276258	chr6:14744426-14744427	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566543937	chr6:14744450-14744451	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185763289	chr6:14744451-14744452	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs377541338	chr6:14744482-14744483	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555355941	chr6:14744539-14744540	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs9476650	chr6:14744576-14744577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538159905	chr6:14744577-14744578	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374905305	chr6:14744602-14744603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Breast cancer	21364760	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14729400-14743400	Weak transcription	Adipose Nuclei	Adipose
2	chr6:14730200-14758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:14733200-14743400	Weak transcription	Esophagus	oesophagus
4	chr6:14734000-14750600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:14737400-14758600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:14737600-14743600	Weak transcription	Spleen	Spleen
7	chr6:14739600-14744000	Weak transcription	Thymus	Thymus
8	chr6:14739800-14743400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:14740000-14743600	Weak transcription	Primary T cells from cord blood	blood
10	chr6:14740000-14743600	Weak transcription	Fetal Thymus	thymus
11	chr6:14740200-14743600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:14740400-14743800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:14741000-14743400	Weak transcription	Right Atrium	heart
14	chr6:14742000-14745200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:14742000-14746000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:14742200-14744800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:14742200-14745000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:14742400-14744200	Flanking Active TSS	NHEK	skin
19	chr6:14742600-14744200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:14742600-14744600	Enhancers	NHDF-Ad	bronchial
21	chr6:14742800-14743400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:14742800-14743400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr6:14742800-14743400	Enhancers	HSMM	muscle
24	chr6:14742800-14743600	Flanking Active TSS	HMEC	breast
25	chr6:14742800-14744000	Enhancers	K562	blood
26	chr6:14742800-14744600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:14743000-14743400	Enhancers	A549	lung
28	chr6:14743000-14743400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:14743000-14743600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:14743000-14743600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:14743000-14743800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:14743000-14743800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:14743000-14744200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:14743000-14744200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr6:14743000-14744400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:14743000-14744400	Flanking Active TSS	Hela-S3	cervix
37	chr6:14743000-14744600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:14743000-14744600	Enhancers	GM12878-XiMat	blood
39	chr6:14743000-14744800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:14743200-14743400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:14743200-14743400	Enhancers	NHLF	lung
42	chr6:14743200-14743600	Flanking Active TSS	NH-A	brain
43	chr6:14743200-14743800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:14743200-14744000	Enhancers	Placenta	Placenta
45	chr6:14743200-14744200	Flanking Active TSS	HSMMtube	muscle
46	chr6:14743200-14744400	Flanking Active TSS	Osteobl	bone
47	chr6:14743200-14744800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr6:14743200-14745400	Enhancers	Stomach Mucosa	stomach
49	chr6:14743400-14743600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:14743400-14743600	Enhancers	Right Atrium	heart

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