Variant report

Variant	esv2752471
Chromosome Location	chr8:122173682-122174849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122174198..122176101-chr8:122438175..122440772,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1821323	chr8:122173682-122173683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187275649	chr8:122173701-122173702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543459154	chr8:122173753-122173754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563343559	chr8:122173779-122173780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192859258	chr8:122173780-122173781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545638990	chr8:122173820-122173821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374059176	chr8:122173845-122173846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559487593	chr8:122173855-122173856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370048000	chr8:122173905-122173906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148963672	chr8:122173958-122173959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60585939	chr8:122173966-122173967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376888035	chr8:122174028-122174029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370223504	chr8:122174064-122174065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73707536	chr8:122174092-122174093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530787112	chr8:122174100-122174101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16894753	chr8:122174110-122174111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570574258	chr8:122174112-122174113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533459999	chr8:122174115-122174116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10956003	chr8:122174133-122174134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573380788	chr8:122174139-122174140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111937068	chr8:122174187-122174188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35517836	chr8:122174205-122174206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184182408	chr8:122174253-122174254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188732494	chr8:122174332-122174333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536997641	chr8:122174358-122174359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557005650	chr8:122174359-122174360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576954622	chr8:122174387-122174388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7016750	chr8:122174411-122174412	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528743914	chr8:122174444-122174445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192721298	chr8:122174447-122174448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572976473	chr8:122174457-122174458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541673128	chr8:122174475-122174476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147679529	chr8:122174478-122174479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7016899	chr8:122174485-122174486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs568434452	chr8:122174512-122174513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535926996	chr8:122174521-122174522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7017023	chr8:122174537-122174538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs368985945	chr8:122174544-122174545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183644991	chr8:122174582-122174583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60679629	chr8:122174586-122174587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566867760	chr8:122174587-122174588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529462581	chr8:122174588-122174589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549600817	chr8:122174589-122174590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7017048	chr8:122174590-122174591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538529070	chr8:122174591-122174592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558535544	chr8:122174592-122174593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142344250	chr8:122174679-122174680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539094205	chr8:122174719-122174720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144072081	chr8:122174730-122174731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552996155	chr8:122174740-122174741	Weak transcription Enhancers	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122167800-122176200	Weak transcription	Stomach Mucosa	stomach
2	chr8:122168000-122175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:122168000-122175800	Weak transcription	HepG2	liver
4	chr8:122168000-122176800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:122168400-122174200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:122168400-122174200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:122168400-122174200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:122168400-122175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:122168400-122176200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:122169000-122174000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:122169200-122174400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:122169800-122174200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:122170200-122175800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:122170600-122174200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:122170800-122174200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:122170800-122174200	Weak transcription	NHLF	lung
17	chr8:122171000-122176400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:122171200-122174000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:122171200-122174600	Weak transcription	HSMMtube	muscle
20	chr8:122171400-122174400	Weak transcription	Osteobl	bone
21	chr8:122171600-122174400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:122171600-122174800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:122172200-122174000	Weak transcription	HSMM	muscle
24	chr8:122173200-122174600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:122173200-122174800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:122173200-122177200	Enhancers	NHDF-Ad	bronchial
27	chr8:122173600-122174400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:122173600-122175400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:122174000-122174600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:122174000-122175800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:122174000-122175800	Enhancers	HSMM	muscle
32	chr8:122174200-122174600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:122174200-122174600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:122174200-122174600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:122174200-122174600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:122174200-122174800	Enhancers	NHLF	lung
37	chr8:122174200-122175200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:122174200-122176000	Enhancers	Hela-S3	cervix
39	chr8:122174200-122177200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:122174200-122177800	Enhancers	HMEC	breast
41	chr8:122174400-122174600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:122174400-122174600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:122174400-122175000	Enhancers	NHEK	skin
44	chr8:122174400-122175800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:122174400-122175800	Enhancers	Osteobl	bone
46	chr8:122174400-122176000	Enhancers	A549	lung
47	chr8:122174400-122177400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:122174400-122177800	Enhancers	NH-A	brain
49	chr8:122174400-122178800	Enhancers	Fetal Lung	lung
50	chr8:122174600-122174800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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