Variant report

Variant	esv3347435
Chromosome Location	chr8:120784021-120786319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:120784241-120784335	ProgFib	skin:	n/a	n/a
2	POLR2A	chr8:120784374-120784409	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120781393..120784060-chr8:120801256..120803126,2	K562	blood:

Variant related genes	Relation type
TAF2	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139286488	chr8:120784060-120784061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386729257	chr8:120784162-120784163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188726137	chr8:120784164-120784165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551350999	chr8:120784167-120784168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566484520	chr8:120784203-120784204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533617213	chr8:120784369-120784370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555460333	chr8:120784476-120784477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193211410	chr8:120784512-120784513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185564567	chr8:120784564-120784565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575576533	chr8:120784568-120784569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546090248	chr8:120784655-120784656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34981479	chr8:120784676-120784677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564096580	chr8:120784743-120784744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573213692	chr8:120784781-120784782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142749908	chr8:120784802-120784803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13254165	chr8:120784863-120784864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115788236	chr8:120784876-120784877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188170146	chr8:120784912-120784913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191489570	chr8:120784914-120784915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113858454	chr8:120784943-120784944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74970851	chr8:120784984-120784985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562677270	chr8:120785038-120785039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533223350	chr8:120785045-120785046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551714342	chr8:120785047-120785048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566314752	chr8:120785099-120785100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184103781	chr8:120785124-120785125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548787947	chr8:120785126-120785127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144496838	chr8:120785128-120785129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535646660	chr8:120785133-120785134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557084811	chr8:120785144-120785145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575440932	chr8:120785146-120785147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188789473	chr8:120785151-120785152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148392447	chr8:120785265-120785266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34234495	chr8:120785333-120785334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs398009597	chr8:120785346-120785347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573142967	chr8:120785374-120785375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540666451	chr8:120785516-120785517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569854432	chr8:120785519-120785520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16892875	chr8:120785559-120785560	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs549198937	chr8:120785593-120785594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115088711	chr8:120785722-120785723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141637263	chr8:120785742-120785743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533181690	chr8:120785778-120785779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545300449	chr8:120785947-120785948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115908882	chr8:120785991-120785992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527279949	chr8:120786002-120786003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114438526	chr8:120786030-120786031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372031577	chr8:120786109-120786110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181591122	chr8:120786221-120786222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531263555	chr8:120786225-120786226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
Chronic myeloid leukemia	21384125	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
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:120759200-120790600	Weak transcription	Fetal Brain Male	brain
5	chr8:120760600-120804600	Weak transcription	Psoas Muscle	Psoas
6	chr8:120761600-120800800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:120767200-120807400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:120768600-120786800	Weak transcription	Small Intestine	intestine
9	chr8:120770400-120787400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:120771000-120789000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:120773400-120788800	Weak transcription	NHDF-Ad	bronchial
12	chr8:120773400-120789400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:120773600-120795000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:120776400-120797800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:120776600-120784600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:120776600-120784800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:120777400-120785000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr8:120777800-120784800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:120777800-120787200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr8:120778400-120784200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:120778600-120784200	Strong transcription	Fetal Lung	lung
22	chr8:120778600-120784800	Strong transcription	Primary hematopoietic stem cells	blood
23	chr8:120779200-120790600	Weak transcription	HUVEC	blood vessel
24	chr8:120779400-120788800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:120780200-120786600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:120780200-120792600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:120780400-120787200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:120780400-120801200	Weak transcription	Brain Substantia Nigra	brain
29	chr8:120780600-120792000	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:120780800-120786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:120780800-120791800	Weak transcription	Stomach Mucosa	stomach
32	chr8:120781000-120786000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:120781000-120786600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:120781000-120789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:120781000-120807000	Weak transcription	Brain Angular Gyrus	brain
36	chr8:120781000-120813800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:120781200-120785200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:120781200-120786400	Weak transcription	NH-A	brain
39	chr8:120781200-120787800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:120781200-120788000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:120781200-120788800	Weak transcription	K562	blood
42	chr8:120781200-120789600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:120781200-120790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:120781200-120790600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:120781200-120791200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:120781200-120792000	Weak transcription	A549	lung
47	chr8:120781200-120792000	Weak transcription	HSMMtube	muscle
48	chr8:120781200-120795000	Weak transcription	NHEK	skin
49	chr8:120781200-120795600	Weak transcription	HMEC	breast
50	chr8:120781200-120796400	Weak transcription	Pancreas	Pancrea

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