Variant report

Variant	esv274944
Chromosome Location	chr8:122106778-122110726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:122109979..122111922-chr8:122159196..122161835,2	MCF-7	breast:
2	chr8:122100040..122104775-chr8:122105426..122111555,7	MCF-7	breast:
3	chr8:122070823..122072418-chr8:122109258..122111973,2	MCF-7	breast:
4	chr8:122110527..122112436-chr8:122144352..122146257,2	MCF-7	breast:

Extended variants
information (count: 159 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs532153078	chr8:122106780-122106781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547041383	chr8:122106804-122106805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150249459	chr8:122106827-122106828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1594741	chr8:122106877-122106878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555960415	chr8:122106878-122106879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567510317	chr8:122106899-122106900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138428291	chr8:122106908-122106909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375116085	chr8:122106927-122106928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535548421	chr8:122106932-122106933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182577933	chr8:122106951-122106952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554358495	chr8:122106973-122106974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577675782	chr8:122106985-122106986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114576524	chr8:122107004-122107005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553852956	chr8:122107035-122107036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540897539	chr8:122107076-122107077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148858171	chr8:122107111-122107112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561109629	chr8:122107112-122107113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531533786	chr8:122107114-122107115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543599456	chr8:122107159-122107160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187702667	chr8:122107189-122107190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190154770	chr8:122107199-122107200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182641645	chr8:122107200-122107201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565523693	chr8:122107284-122107285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143437963	chr8:122107311-122107312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529961252	chr8:122107387-122107388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76107922	chr8:122107408-122107409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554357797	chr8:122107422-122107423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78499797	chr8:122107435-122107436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538060073	chr8:122107459-122107460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186960345	chr8:122107479-122107480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571430682	chr8:122107492-122107493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192269458	chr8:122107561-122107562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185280104	chr8:122107653-122107654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569868881	chr8:122107674-122107675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572341984	chr8:122107687-122107688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76777817	chr8:122107735-122107736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188794057	chr8:122107740-122107741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111479506	chr8:122107756-122107757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193214444	chr8:122107758-122107759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137954794	chr8:122107760-122107761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184412373	chr8:122107763-122107764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565049758	chr8:122107768-122107769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34161509	chr8:122107782-122107783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576904766	chr8:122107786-122107787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79856810	chr8:122107818-122107819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143420063	chr8:122107904-122107905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529660444	chr8:122107949-122107950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147208233	chr8:122107963-122107964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs714662	chr8:122107975-122107976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs117454117	chr8:122107987-122107988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122099800-122107000	Weak transcription	Fetal Lung	lung
2	chr8:122102400-122107000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:122102400-122108800	Weak transcription	NHDF-Ad	bronchial
4	chr8:122107000-122107600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:122107000-122107800	Enhancers	Fetal Lung	lung
6	chr8:122107200-122107600	Enhancers	Fetal Muscle Leg	muscle
7	chr8:122107800-122108000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:122107800-122117400	Weak transcription	Fetal Lung	lung
9	chr8:122108000-122108800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:122108600-122109000	Enhancers	Liver	Liver
11	chr8:122108800-122109200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:122108800-122109200	ZNF genes & repeats	NHDF-Ad	bronchial
13	chr8:122108800-122110200	Enhancers	HMEC	breast
14	chr8:122109000-122109800	Weak transcription	Liver	Liver
15	chr8:122109000-122110000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:122109000-122110000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:122109200-122109800	Enhancers	Stomach Mucosa	stomach
18	chr8:122109200-122110200	Enhancers	Hela-S3	cervix
19	chr8:122109200-122110200	Enhancers	HepG2	liver
20	chr8:122109200-122111200	Weak transcription	NHDF-Ad	bronchial
21	chr8:122109200-122111800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:122109600-122110000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:122109600-122110000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:122109600-122110000	Enhancers	Lung	lung
25	chr8:122109600-122110000	Enhancers	Pancreas	Pancrea
26	chr8:122109600-122110000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:122109600-122110000	Enhancers	HSMM	muscle
28	chr8:122109600-122110000	Enhancers	HSMMtube	muscle
29	chr8:122109600-122110000	Enhancers	NH-A	brain
30	chr8:122109600-122110200	Enhancers	NHEK	skin
31	chr8:122109800-122110000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:122109800-122110000	Enhancers	Liver	Liver
33	chr8:122110000-122110200	Weak transcription	Liver	Liver
34	chr8:122110000-122111000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:122110000-122111400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links