Variant report

Variant	esv3391053
Chromosome Location	chr6:11418366-11422164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11420390..11423840-chr6:11426656..11428860,3	MCF-7	breast:
2	chr6:11421367..11422963-chr6:11460119..11461659,2	MCF-7	breast:
3	chr6:11418259..11420546-chr6:11423416..11426272,2	MCF-7	breast:
4	chr6:11416973..11419979-chr6:11420494..11423481,3	MCF-7	breast:
5	chr6:11409800..11411371-chr6:11421171..11422724,2	MCF-7	breast:
6	chr6:11420850..11423411-chr6:11425046..11427068,2	K562	blood:

Variant related genes	Relation type
ENSG00000233656	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372409094	chr6:11418387-11418388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183491908	chr6:11418389-11418390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140370305	chr6:11418390-11418391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4370358	chr6:11418436-11418437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188387973	chr6:11418467-11418468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7761899	chr6:11418549-11418550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567874913	chr6:11418675-11418676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535036222	chr6:11418681-11418682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554988463	chr6:11418796-11418797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544999474	chr6:11418809-11418810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537580339	chr6:11418883-11418884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557508480	chr6:11418888-11418889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570792925	chr6:11418901-11418902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577738263	chr6:11418925-11418926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533762872	chr6:11418931-11418932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193225023	chr6:11418943-11418944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573900555	chr6:11418948-11418949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145558474	chr6:11418967-11418968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114264643	chr6:11418979-11418980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183185291	chr6:11418999-11419000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187867950	chr6:11419105-11419106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576584237	chr6:11419211-11419212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545493096	chr6:11419264-11419265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565253340	chr6:11419265-11419266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527848113	chr6:11419267-11419268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6904848	chr6:11419275-11419276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138745982	chr6:11419294-11419295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6931599	chr6:11419335-11419336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548552209	chr6:11419367-11419368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568537252	chr6:11419474-11419475	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537468895	chr6:11419476-11419477	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551421442	chr6:11419507-11419508	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9394079	chr6:11419692-11419693	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200562882	chr6:11419717-11419718	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57242259	chr6:11419719-11419720	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201689402	chr6:11419729-11419730	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533990222	chr6:11419772-11419773	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553726023	chr6:11419788-11419789	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573968763	chr6:11419819-11419820	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536577725	chr6:11419830-11419831	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556522320	chr6:11419835-11419836	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576473827	chr6:11419846-11419847	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545430786	chr6:11419886-11419887	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565335938	chr6:11419898-11419899	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572492967	chr6:11419939-11419940	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541601381	chr6:11419972-11419973	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561354111	chr6:11419994-11419995	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149344672	chr6:11420076-11420077	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191276426	chr6:11420119-11420120	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183766150	chr6:11420143-11420144	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11405400-11419400	Weak transcription	Aorta	Aorta
2	chr6:11412600-11425600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:11412600-11425600	Weak transcription	NHLF	lung
4	chr6:11415000-11425800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:11415200-11418800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:11416200-11419800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:11416600-11423400	Weak transcription	A549	lung
8	chr6:11416600-11423600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:11417600-11421800	Enhancers	HepG2	liver
10	chr6:11417800-11419400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:11417800-11426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:11418200-11419800	Enhancers	HUVEC	blood vessel
13	chr6:11418800-11419600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:11419400-11419800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:11419400-11420200	Enhancers	Aorta	Aorta
16	chr6:11419400-11420800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:11419600-11419800	Enhancers	Pancreas	Pancrea
18	chr6:11419600-11420000	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:11419600-11420200	Enhancers	Lung	lung
20	chr6:11419800-11420000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:11419800-11420000	Enhancers	Esophagus	oesophagus
22	chr6:11419800-11420200	Weak transcription	Pancreas	Pancrea
23	chr6:11419800-11423400	Weak transcription	HUVEC	blood vessel
24	chr6:11420000-11423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:11420200-11420400	ZNF genes & repeats	Pancreas	Pancrea
26	chr6:11420200-11427400	Weak transcription	Aorta	Aorta
27	chr6:11420400-11420800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:11420400-11420800	Active TSS	Spleen	Spleen
29	chr6:11420800-11423400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:11421800-11423600	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links