Variant report

Variant	esv19498
Chromosome Location	chr8:125101681-125110686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125108933..125111615-chr8:125153576..125155257,2	MCF-7	breast:
2	chr8:125102376..125106227-chr8:125106854..125110731,4	MCF-7	breast:
3	chr8:125090772..125094990-chr8:125105742..125107910,3	MCF-7	breast:
4	chr8:125102376..125106227-chr8:125106854..125110731,4	MCF-7	breast:
5	chr8:125110351..125112289-chr8:125114668..125117453,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250727	chromatin interactions

Extended variants
information (count: 364 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535074332	chr8:125101702-125101703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73330182	chr8:125101726-125101727	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145776388	chr8:125101739-125101740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140327056	chr8:125101811-125101812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538176586	chr8:125101887-125101888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577790798	chr8:125101894-125101895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556475536	chr8:125101901-125101902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540359825	chr8:125101916-125101917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374680554	chr8:125101956-125101957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568308440	chr8:125101989-125101990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145470084	chr8:125102002-125102003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192220330	chr8:125102029-125102030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561298613	chr8:125102053-125102054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542607739	chr8:125102065-125102066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138693098	chr8:125102110-125102111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6470218	chr8:125102145-125102146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34369591	chr8:125102153-125102154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530868924	chr8:125102278-125102279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2069078	chr8:125102299-125102300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564301020	chr8:125102355-125102356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138089282	chr8:125102363-125102364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546735904	chr8:125102388-125102389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189137662	chr8:125102404-125102405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117193397	chr8:125102419-125102420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78683242	chr8:125102420-125102421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568830358	chr8:125102423-125102424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4446721	chr8:125102433-125102434	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs558011465	chr8:125102442-125102443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4412351	chr8:125102535-125102536	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534099093	chr8:125102539-125102540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543732927	chr8:125102548-125102549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182024181	chr8:125102553-125102554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574008863	chr8:125102561-125102562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536741781	chr8:125102571-125102572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556331648	chr8:125102578-125102579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113381882	chr8:125102633-125102634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4330676	chr8:125102703-125102704	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185818539	chr8:125102740-125102741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4345538	chr8:125102806-125102807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116938701	chr8:125102817-125102818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7817244	chr8:125102822-125102823	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560204681	chr8:125102846-125102847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529023573	chr8:125102855-125102856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549038882	chr8:125102918-125102919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17358212	chr8:125102919-125102920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560013131	chr8:125102928-125102929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551677830	chr8:125103049-125103050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189062242	chr8:125103084-125103085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137991858	chr8:125103094-125103095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534132120	chr8:125103106-125103107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
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
Acute myeloid leukemia	20729466	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
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
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	18160780	CNVD
Cancer	20164919	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125076800-125121800	Weak transcription	Fetal Stomach	stomach
2	chr8:125095400-125107000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:125100200-125102000	Enhancers	Fetal Muscle Leg	muscle
4	chr8:125100200-125102000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:125100600-125101800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:125100800-125124600	Weak transcription	Gastric	stomach
7	chr8:125101400-125101800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:125101400-125102800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:125101600-125102200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:125101600-125102400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:125101600-125102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:125101600-125103000	Weak transcription	Psoas Muscle	Psoas
13	chr8:125101600-125107400	Weak transcription	Stomach Mucosa	stomach
14	chr8:125101800-125102200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:125102000-125102400	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:125102000-125102400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:125102200-125103000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:125102200-125103000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:125102200-125103000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:125102200-125103000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:125102400-125102600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:125102400-125102800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:125102400-125103000	Enhancers	Fetal Muscle Leg	muscle
24	chr8:125102600-125103000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr8:125102600-125103000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:125102600-125103000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:125102800-125103200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:125103000-125103800	Enhancers	Psoas Muscle	Psoas
29	chr8:125107000-125107600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:125107400-125109200	Strong transcription	Stomach Mucosa	stomach
31	chr8:125107600-125108600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:125107600-125110000	Enhancers	Fetal Intestine Large	intestine
33	chr8:125107800-125110200	Enhancers	HepG2	liver
34	chr8:125108000-125110000	Enhancers	Fetal Intestine Small	intestine
35	chr8:125108200-125108600	Enhancers	Fetal Brain Male	brain
36	chr8:125108600-125115400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:125109200-125111200	Weak transcription	Stomach Mucosa	stomach
38	chr8:125109600-125111400	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:125109600-125113800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:125109800-125112000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:125110000-125111200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:125110000-125113600	Weak transcription	Fetal Intestine Small	intestine
43	chr8:125110000-125116000	Weak transcription	Fetal Intestine Large	intestine

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