Variant report

Variant	esv3414662
Chromosome Location	chr6:15655007-15660306
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15659552..15664792-chr6:16126837..16130644,6	MCF-7	breast:
2	chr6:15639326..15640844-chr6:15655108..15657215,2	K562	blood:
3	chr6:15655170..15659272-chr6:15659508..15662983,5	MCF-7	breast:
4	chr6:15628579..15630551-chr6:15656798..15659188,2	K562	blood:
5	chr6:15651916..15655538-chr6:15660985..15664284,6	K562	blood:
6	chr6:15652481..15654857-chr6:15657741..15659899,3	K562	blood:
7	chr6:15655170..15659272-chr6:15659508..15662983,5	MCF-7	breast:
8	chr6:15570441..15572799-chr6:15659666..15662053,2	K562	blood:
9	chr6:15657500..15659223-chr6:15666722..15668599,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000007944	chromatin interactions
ENSG00000047579	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138425415	chr6:15655007-15655008	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188401204	chr6:15655063-15655064	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530337238	chr6:15655073-15655074	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549927662	chr6:15655080-15655081	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569938727	chr6:15655100-15655101	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538324904	chr6:15655133-15655134	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533533464	chr6:15655207-15655208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs36212519	chr6:15655213-15655214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565662669	chr6:15655235-15655236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2743854	chr6:15655269-15655270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs62394977	chr6:15655391-15655392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149278410	chr6:15655455-15655456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568324935	chr6:15655489-15655490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537362776	chr6:15655593-15655594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143443732	chr6:15655607-15655608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544333474	chr6:15655750-15655751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545473519	chr6:15655765-15655766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562624327	chr6:15655841-15655842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577933247	chr6:15655852-15655853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370118820	chr6:15655871-15655872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11463086	chr6:15655872-15655873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs5874522	chr6:15655879-15655880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs398000606	chr6:15655885-15655886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146121195	chr6:15655886-15655887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572504148	chr6:15655931-15655932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372054445	chr6:15655938-15655939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553780742	chr6:15655953-15655954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115911864	chr6:15656047-15656048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12211419	chr6:15656058-15656059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76123668	chr6:15656117-15656118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375564771	chr6:15656118-15656119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs398072697	chr6:15656121-15656122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560962119	chr6:15656130-15656131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180832601	chr6:15656138-15656139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543735234	chr6:15656152-15656153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2619520	chr6:15656155-15656156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532639078	chr6:15656157-15656158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577646046	chr6:15656188-15656189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545050315	chr6:15656195-15656196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552249753	chr6:15656200-15656201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2619519	chr6:15656202-15656203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560958066	chr6:15656214-15656215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372351883	chr6:15656216-15656217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531650279	chr6:15656292-15656293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545216872	chr6:15656319-15656320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547845250	chr6:15656350-15656351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568088948	chr6:15656397-15656398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537325910	chr6:15656404-15656405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557332698	chr6:15656474-15656475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570656155	chr6:15656514-15656515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17142309	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Schizophrenia	22423091	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15600000-15660400	Weak transcription	Hela-S3	cervix
2	chr6:15615200-15662200	Weak transcription	Gastric	stomach
3	chr6:15616800-15662000	Weak transcription	Placenta	Placenta
4	chr6:15616800-15662200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:15621800-15662200	Weak transcription	Pancreas	Pancrea
6	chr6:15623800-15662000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:15628600-15662000	Weak transcription	NHLF	lung
8	chr6:15629600-15657000	Weak transcription	K562	blood
9	chr6:15629600-15661800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:15632200-15662000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:15634400-15657600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:15634600-15657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:15637200-15662000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:15638200-15662000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:15639400-15662200	Weak transcription	Left Ventricle	heart
16	chr6:15642000-15662000	Weak transcription	Brain Angular Gyrus	brain
17	chr6:15642200-15662200	Weak transcription	Aorta	Aorta
18	chr6:15642400-15661400	Weak transcription	Spleen	Spleen
19	chr6:15642600-15662200	Weak transcription	Esophagus	oesophagus
20	chr6:15642800-15662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:15642800-15662000	Weak transcription	Lung	lung
22	chr6:15642800-15662000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:15643000-15658600	Weak transcription	Fetal Thymus	thymus
24	chr6:15643000-15662000	Weak transcription	Fetal Stomach	stomach
25	chr6:15644400-15658600	Weak transcription	Psoas Muscle	Psoas
26	chr6:15644400-15661800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:15644400-15662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:15644800-15658600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:15644800-15661800	Weak transcription	HepG2	liver
30	chr6:15644800-15662000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:15644800-15662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:15645600-15661800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr6:15646000-15662000	Weak transcription	NHDF-Ad	bronchial
34	chr6:15646200-15662000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:15647200-15658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:15647800-15662000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:15648200-15656200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:15648200-15662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:15648400-15657200	Weak transcription	Primary T cells from cord blood	blood
40	chr6:15648600-15661000	Weak transcription	Fetal Intestine Large	intestine
41	chr6:15648600-15662000	Weak transcription	Fetal Lung	lung
42	chr6:15648800-15657600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:15648800-15662000	Weak transcription	Fetal Brain Female	brain
44	chr6:15649000-15658800	Weak transcription	Thymus	Thymus
45	chr6:15649400-15658400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:15649400-15662000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:15649600-15662000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:15649800-15658800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:15649800-15662000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:15649800-15662000	Weak transcription	Liver	Liver

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