Variant report

Variant	esv3471675
Chromosome Location	chr6:14744198-14746946
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:14723271..14725963-chr6:14742702..14744914,2	MCF-7	breast:
2	chr6:14736820..14738358-chr6:14746307..14748994,2	K562	blood:
3	chr6:14736458..14739208-chr6:14742819..14744601,3	K562	blood:
4	chr6:14743112..14746025-chr6:14761526..14763688,5	MCF-7	breast:
5	chr6:14744177..14745935-chr6:14757956..14760558,2	MCF-7	breast:
6	chr6:14742689..14745266-chr6:15089259..15092488,3	MCF-7	breast:
7	chr6:14734617..14737417-chr6:14746915..14749390,2	MCF-7	breast:
8	chr6:14739993..14742172-chr6:14742805..14745724,2	MCF-7	breast:
9	chr6:14741983..14744344-chr6:15066073..15067702,2	MCF-7	breast:
10	chr6:14689204..14691508-chr6:14742647..14744690,2	K562	blood:
11	chr1:144533874..144534529-chr6:14744077..14744583,2	HCT-116	colon:
12	chr6:14744452..14746852-chr6:14757567..14759305,2	K562	blood:
13	chr6:14726660..14728814-chr6:14743224..14745170,2	MCF-7	breast:
14	chr6:14742305..14744752-chr6:15222484..15225143,3	MCF-7	breast:
15	chr6:14740809..14742542-chr6:14742789..14745610,2	K562	blood:
16	chr6:14739721..14742371-chr6:14745948..14748860,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201699	chromatin interactions
ENSG00000234261	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530410027	chr6:14744209-14744210	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537335701	chr6:14744231-14744232	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	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
4	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
5	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
6	rs546686299	chr6:14744370-14744371	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34276258	chr6:14744426-14744427	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566543937	chr6:14744450-14744451	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185763289	chr6:14744451-14744452	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs377541338	chr6:14744482-14744483	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555355941	chr6:14744539-14744540	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	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
13	rs538159905	chr6:14744577-14744578	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs374905305	chr6:14744602-14744603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557344903	chr6:14744640-14744641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567545072	chr6:14744666-14744667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568917640	chr6:14744704-14744705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200234573	chr6:14744707-14744708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190960447	chr6:14744750-14744751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183098606	chr6:14744751-14744752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148872999	chr6:14744754-14744755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573335336	chr6:14744793-14744794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35950859	chr6:14744803-14744804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1973886	chr6:14744804-14744805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542445331	chr6:14744894-14744895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367571358	chr6:14744898-14744899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531084231	chr6:14744929-14744930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146994982	chr6:14744930-14744931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563701348	chr6:14744942-14744943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147903207	chr6:14744966-14744967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370662170	chr6:14744976-14744977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368741426	chr6:14745037-14745038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546354404	chr6:14745141-14745142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71679823	chr6:14745196-14745197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs199765978	chr6:14745199-14745200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113580832	chr6:14745201-14745202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567507460	chr6:14745208-14745209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560224658	chr6:14745261-14745262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs58722731	chr6:14745282-14745283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76619417	chr6:14745286-14745287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553201461	chr6:14745291-14745292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186665592	chr6:14745352-14745353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569075992	chr6:14745555-14745556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189701887	chr6:14745597-14745598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368032681	chr6:14745693-14745694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200862145	chr6:14745695-14745696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201679030	chr6:14745696-14745697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368449124	chr6:14745697-14745698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538096229	chr6:14745722-14745723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551740860	chr6:14745759-14745760	Weak transcription Enhancers	n/a	n/a	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14730200-14758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:14734000-14750600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:14737400-14758600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:14742000-14745200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:14742000-14746000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:14742200-14744800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:14742200-14745000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:14742400-14744200	Flanking Active TSS	NHEK	skin
9	chr6:14742600-14744200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:14742600-14744600	Enhancers	NHDF-Ad	bronchial
11	chr6:14742800-14744600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:14743000-14744200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:14743000-14744200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr6:14743000-14744400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:14743000-14744400	Flanking Active TSS	Hela-S3	cervix
16	chr6:14743000-14744600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:14743000-14744600	Enhancers	GM12878-XiMat	blood
18	chr6:14743000-14744800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:14743200-14744200	Flanking Active TSS	HSMMtube	muscle
20	chr6:14743200-14744400	Flanking Active TSS	Osteobl	bone
21	chr6:14743200-14744800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:14743200-14745400	Enhancers	Stomach Mucosa	stomach
23	chr6:14743400-14744200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:14743400-14744200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr6:14743400-14744200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:14743400-14744200	Enhancers	Adipose Nuclei	Adipose
27	chr6:14743400-14744200	Enhancers	Esophagus	oesophagus
28	chr6:14743400-14744200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:14743400-14744600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:14743400-14744600	Flanking Active TSS	A549	lung
31	chr6:14743600-14744200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:14743600-14744200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:14743600-14744200	Enhancers	Colon Smooth Muscle	Colon
34	chr6:14743600-14744600	Enhancers	Primary T cells from cord blood	blood
35	chr6:14743600-14744600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:14743600-14744600	Enhancers	NHLF	lung
37	chr6:14743600-14745000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:14743600-14745000	Enhancers	Fetal Thymus	thymus
39	chr6:14743600-14767400	Weak transcription	Right Atrium	heart
40	chr6:14743800-14744200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:14743800-14744200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:14743800-14744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:14743800-14744400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:14743800-14744600	Enhancers	Primary hematopoietic stem cells	blood
45	chr6:14743800-14744600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:14744000-14744200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:14744000-14744200	Flanking Active TSS	HMEC	breast
48	chr6:14744000-14744200	Flanking Active TSS	NH-A	brain
49	chr6:14744000-14744400	Weak transcription	Placenta	Placenta
50	chr6:14744000-14744400	Enhancers	Thymus	Thymus

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