Variant report

Variant	esv3357042
Chromosome Location	chr6:11489266-11493964
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11230707..11237186-chr6:11493072..11498269,11	MCF-7	breast:
2	chr6:11438078..11439699-chr6:11488240..11490265,2	MCF-7	breast:
3	chr6:11489653..11491693-chr6:11494680..11496394,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM170B-1	chr6:11490546-11490697	ENSG00000242753.1
2	lnc-TMEM170B-2	chr6:11490546-11490697	NONHSAT107755
3	lnc-TMEM170B-2	chr6:11490546-11490697	NONHSAT107756
4	lnc-TMEM170B-2	chr6:11489349-11489408	NONHSAT107756

No data

Variant related genes	Relation type
ENSG00000111859	chromatin interactions

Extended variants
information (count: 233 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188713557	chr6:11489266-11489267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529055781	chr6:11489282-11489283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542416308	chr6:11489320-11489321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562402823	chr6:11489331-11489332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370914736	chr6:11489377-11489378	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs575344525	chr6:11489397-11489398	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs531538869	chr6:11489413-11489414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551356556	chr6:11489463-11489464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558300226	chr6:11489502-11489503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373342249	chr6:11489510-11489511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181405564	chr6:11489520-11489521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571640511	chr6:11489525-11489526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79122675	chr6:11489528-11489529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527766486	chr6:11489582-11489583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184356188	chr6:11489626-11489627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13193821	chr6:11489653-11489654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556808116	chr6:11489678-11489679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182184503	chr6:11489679-11489680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373513086	chr6:11489682-11489683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369038660	chr6:11489683-11489684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554257648	chr6:11489708-11489709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556346243	chr6:11489788-11489789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59525038	chr6:11489826-11489827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs141131990	chr6:11489853-11489854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7770004	chr6:11489854-11489855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569736231	chr6:11489865-11489866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573410753	chr6:11489871-11489872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78677846	chr6:11489894-11489895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545669133	chr6:11489906-11489907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565307998	chr6:11489960-11489961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187618066	chr6:11490004-11490005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140342651	chr6:11490014-11490015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74968720	chr6:11490061-11490062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527970109	chr6:11490098-11490099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544934821	chr6:11490179-11490180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532280522	chr6:11490188-11490189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565047287	chr6:11490198-11490199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10498678	chr6:11490204-11490205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12192728	chr6:11490255-11490256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4713592	chr6:11490307-11490308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs79323421	chr6:11490370-11490371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78988722	chr6:11490386-11490387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570291676	chr6:11490406-11490407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6936344	chr6:11490537-11490538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs28651839	chr6:11490544-11490545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566244911	chr6:11490586-11490587	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs533740204	chr6:11490587-11490588	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs190699545	chr6:11490651-11490652	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs139150881	chr6:11490669-11490670	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs535967100	chr6:11490681-11490682	Weak transcription Enhancers	lncRNA	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
Pancreatic cancer	17952125	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11480200-11491200	Weak transcription	Fetal Kidney	kidney
2	chr6:11483800-11495000	Weak transcription	Pancreas	Pancrea
3	chr6:11486800-11496000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:11486800-11496800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:11487000-11495000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:11487400-11495800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:11487400-11495800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:11488000-11491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:11490600-11490800	Enhancers	A549	lung
10	chr6:11491000-11492000	Weak transcription	A549	lung
11	chr6:11491200-11491800	ZNF genes & repeats	Fetal Kidney	kidney
12	chr6:11491400-11491600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:11491400-11491800	Weak transcription	HepG2	liver
14	chr6:11491600-11492000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:11491800-11492000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:11491800-11492400	Enhancers	GM12878-XiMat	blood
17	chr6:11491800-11495800	Weak transcription	Fetal Kidney	kidney
18	chr6:11491800-11497200	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:11492000-11492800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:11492000-11493200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:11492000-11493400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:11492000-11493400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:11492000-11493600	Enhancers	NHDF-Ad	bronchial
24	chr6:11492000-11496200	Enhancers	Primary B cells from cord blood	blood
25	chr6:11492000-11498200	Enhancers	A549	lung
26	chr6:11492200-11493000	Enhancers	HSMMtube	muscle
27	chr6:11492200-11493600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:11492200-11493600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:11492200-11493800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:11492200-11497400	Enhancers	HepG2	liver
31	chr6:11492400-11492800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:11492400-11493400	Enhancers	Osteobl	bone
33	chr6:11492400-11493800	Flanking Active TSS	GM12878-XiMat	blood
34	chr6:11492600-11492800	Weak transcription	Lung	lung
35	chr6:11492600-11493200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:11492600-11493200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr6:11492800-11493000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:11492800-11493000	Enhancers	Lung	lung
39	chr6:11492800-11493000	Enhancers	NH-A	brain
40	chr6:11492800-11493400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:11492800-11493400	Enhancers	Spleen	Spleen
42	chr6:11492800-11493600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:11492800-11493600	Enhancers	Placenta	Placenta
44	chr6:11492800-11496000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:11493000-11494600	Weak transcription	Lung	lung
46	chr6:11493000-11495000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:11493000-11499800	Weak transcription	NH-A	brain
48	chr6:11493200-11494200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:11493200-11496000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr6:11493400-11493600	Enhancers	Fetal Stomach	stomach

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