Variant report

Variant	esv2763532
Chromosome Location	chr6:11634722-11641048
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11635694..11639373-chr6:11641887..11645289,3	K562	blood:
2	chr6:11632264..11635404-chr6:11639257..11642520,3	K562	blood:
3	chr6:11636429..11639220-chr6:11640255..11642942,3	MCF-7	breast:
4	chr6:11636429..11639220-chr6:11640255..11642942,3	MCF-7	breast:
5	chr6:11632264..11635404-chr6:11639257..11642520,3	K562	blood:
6	chr6:11632080..11634746-chr6:11636196..11638611,3	K562	blood:
7	chr6:11625969..11627543-chr6:11634747..11636850,2	K562	blood:
8	chr6:11632080..11634746-chr6:11636196..11638611,3	K562	blood:

No data

Extended variants
information (count: 266 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs821437	chr6:11634722-11634723	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554690016	chr6:11634747-11634748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574739072	chr6:11634749-11634750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140427221	chr6:11634836-11634837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80173765	chr6:11634872-11634873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530644624	chr6:11634908-11634909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs821245	chr6:11634913-11634914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139123407	chr6:11634950-11634951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1150570	chr6:11634951-11634952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573485707	chr6:11634985-11634986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370386406	chr6:11635006-11635007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542480334	chr6:11635017-11635018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563908523	chr6:11635037-11635038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560731859	chr6:11635100-11635101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374129666	chr6:11635143-11635144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529284537	chr6:11635147-11635148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9469728	chr6:11635216-11635217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201279443	chr6:11635218-11635219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374709642	chr6:11635222-11635223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183727259	chr6:11635291-11635292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563416046	chr6:11635293-11635294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188499814	chr6:11635312-11635313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4713757	chr6:11635322-11635323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552432194	chr6:11635329-11635330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12208794	chr6:11635398-11635399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534631027	chr6:11635437-11635438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149960593	chr6:11635470-11635471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145134821	chr6:11635485-11635486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537091845	chr6:11635494-11635495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28692581	chr6:11635510-11635511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529204831	chr6:11635559-11635560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373421450	chr6:11635560-11635561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376304751	chr6:11635567-11635568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539524218	chr6:11635595-11635596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553172382	chr6:11635667-11635668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192479741	chr6:11635702-11635703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542163610	chr6:11635714-11635715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183545463	chr6:11635724-11635725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575840601	chr6:11635725-11635726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4345390	chr6:11635790-11635791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543478837	chr6:11635857-11635858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77358982	chr6:11635888-11635889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149111176	chr6:11635890-11635891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552270828	chr6:11635905-11635906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9366843	chr6:11635909-11635910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528240654	chr6:11635910-11635911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74836095	chr6:11635917-11635918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186790780	chr6:11635922-11635923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191445139	chr6:11635926-11635927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184591162	chr6:11635969-11635970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
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	22495311	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
Melanoma	20688739	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11632600-11634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:11632600-11635800	Enhancers	Pancreas	Pancrea
3	chr6:11633200-11636600	Weak transcription	Fetal Lung	lung
4	chr6:11633200-11636800	Weak transcription	Gastric	stomach
5	chr6:11633200-11640200	Weak transcription	Aorta	Aorta
6	chr6:11633400-11636800	Weak transcription	Lung	lung
7	chr6:11633600-11636600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:11633600-11637000	Weak transcription	NH-A	brain
9	chr6:11633600-11637200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:11633600-11637200	Weak transcription	HSMM	muscle
11	chr6:11633600-11637400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:11633800-11637400	Weak transcription	HSMMtube	muscle
13	chr6:11634000-11635000	Enhancers	NHEK	skin
14	chr6:11634200-11634800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:11634200-11635000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:11634200-11635600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:11634400-11634800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:11634400-11635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:11634400-11636600	Weak transcription	Stomach Mucosa	stomach
20	chr6:11634600-11634800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:11634600-11634800	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:11634600-11635000	Enhancers	HMEC	breast
23	chr6:11634800-11637400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:11635600-11638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:11635800-11636200	Weak transcription	Pancreas	Pancrea
26	chr6:11636200-11639200	Enhancers	Pancreas	Pancrea
27	chr6:11636600-11637000	Enhancers	Fetal Lung	lung
28	chr6:11636600-11637200	Enhancers	Ovary	ovary
29	chr6:11636600-11638400	Enhancers	Stomach Mucosa	stomach
30	chr6:11636800-11637200	Enhancers	Gastric	stomach
31	chr6:11636800-11637200	Enhancers	Lung	lung
32	chr6:11637000-11638000	Enhancers	NH-A	brain
33	chr6:11637000-11638200	Enhancers	Osteobl	bone
34	chr6:11637000-11638600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:11637000-11639000	Weak transcription	Fetal Lung	lung
36	chr6:11637200-11637400	Enhancers	Fetal Stomach	stomach
37	chr6:11637200-11637800	Enhancers	Stomach Smooth Muscle	stomach
38	chr6:11637200-11638400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:11637200-11638800	Enhancers	HSMM	muscle
40	chr6:11637200-11640200	Weak transcription	Ovary	ovary
41	chr6:11637200-11640400	Weak transcription	Lung	lung
42	chr6:11637400-11638200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:11637400-11638200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:11637400-11638800	Enhancers	HSMMtube	muscle
45	chr6:11637400-11639000	Weak transcription	Fetal Stomach	stomach
46	chr6:11638000-11639000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:11638000-11641600	Weak transcription	NH-A	brain
48	chr6:11638200-11638600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:11638400-11650000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:11638600-11640800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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