Variant report

Variant	esv2755115
Chromosome Location	chr6:23743412-23790212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:23547784..23548342-chr6:23754161..23755095,2	MCF-7	breast:
2	chr6:23784877..23787259-chr6:23789996..23792696,2	K562	blood:
3	chr17:57183637..57185422-chr6:23747596..23749693,2	MCF-7	breast:
4	chr6:23720899..23723195-chr6:23747415..23749534,2	MCF-7	breast:
5	chr6:23784877..23787259-chr6:23789996..23792696,2	K562	blood:

Variant related genes	Relation type
ENSG00000224738	chromatin interactions
ENSG00000108395	chromatin interactions

Extended variants
information (count: 711 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28561416	chr6:23747404-23747405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189670909	chr6:23747451-23747452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181141962	chr6:23747452-23747453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547646539	chr6:23747477-23747478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565860165	chr6:23747479-23747480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539563853	chr6:23747502-23747503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367863912	chr6:23747526-23747527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576000512	chr6:23747538-23747539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558954854	chr6:23747544-23747545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186132625	chr6:23747545-23747546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574350260	chr6:23747575-23747576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545281209	chr6:23747599-23747600	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143087970	chr6:23747665-23747666	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575073710	chr6:23747680-23747681	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147071806	chr6:23747681-23747682	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1886562	chr6:23747732-23747733	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs572399909	chr6:23747744-23747745	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138125944	chr6:23747766-23747767	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs564383055	chr6:23747822-23747823	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149562988	chr6:23747825-23747826	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs549954354	chr6:23747836-23747837	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs1886563	chr6:23747837-23747838	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34603475	chr6:23747852-23747853	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs577402077	chr6:23747853-23747854	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200347754	chr6:23747860-23747861	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs77655614	chr6:23747862-23747863	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75261934	chr6:23747863-23747864	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs78409865	chr6:23747864-23747865	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs78266897	chr6:23747865-23747866	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547687070	chr6:23747882-23747883	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs34198800	chr6:23747890-23747891	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565900011	chr6:23747895-23747896	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1886564	chr6:23747898-23747899	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551506081	chr6:23747909-23747910	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188891324	chr6:23747914-23747915	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs77542244	chr6:23747929-23747930	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs181595553	chr6:23747950-23747951	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555105132	chr6:23747951-23747952	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573557373	chr6:23747967-23747968	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs535766410	chr6:23747980-23747981	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187389204	chr6:23747984-23747985	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562640749	chr6:23747995-23747996	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs80300371	chr6:23748011-23748012	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs192234264	chr6:23748027-23748028	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs79516855	chr6:23748030-23748031	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs144097581	chr6:23748043-23748044	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs182695343	chr6:23748050-23748051	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561961315	chr6:23748053-23748054	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529270952	chr6:23748068-23748069	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547723729	chr6:23748086-23748087	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
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
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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	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
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23747400-23748200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:23752800-23753600	Enhancers	Fetal Kidney	kidney
3	chr6:23756800-23757400	Active TSS	Fetal Heart	heart
4	chr6:23774000-23774600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:23774600-23774800	Enhancers	Rectal Smooth Muscle	rectum
6	chr6:23774600-23775000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:23774600-23775600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:23775200-23775800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:23775400-23775600	Enhancers	Rectal Smooth Muscle	rectum
10	chr6:23781600-23781800	Enhancers	Fetal Kidney	kidney
11	chr6:23783800-23785000	Enhancers	Fetal Kidney	kidney
12	chr6:23784000-23784200	Active TSS	Aorta	Aorta
13	chr6:23784000-23784400	Enhancers	Fetal Stomach	stomach
14	chr6:23784200-23784400	Flanking Active TSS	Aorta	Aorta
15	chr6:23784200-23784800	Enhancers	Rectal Smooth Muscle	rectum
16	chr6:23784200-23786000	Enhancers	Colon Smooth Muscle	Colon
17	chr6:23784400-23784600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:23784400-23785000	Enhancers	Aorta	Aorta
19	chr6:23784400-23785200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:23784400-23785200	Weak transcription	Fetal Stomach	stomach
21	chr6:23784600-23785200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:23785000-23786000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:23785000-23786000	Weak transcription	Fetal Kidney	kidney
24	chr6:23785200-23785600	Enhancers	Fetal Stomach	stomach
25	chr6:23785200-23786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:23785200-23786200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:23785400-23786400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:23785600-23785800	Weak transcription	Fetal Stomach	stomach
29	chr6:23785800-23786200	Enhancers	Fetal Stomach	stomach
30	chr6:23786000-23786200	Enhancers	Fetal Kidney	kidney
31	chr6:23786200-23790000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:23790000-23790400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:23790000-23790600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:23790200-23791800	Enhancers	Cortex derived primary cultured neurospheres	brain

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