Variant report

Variant	esv2310118
Chromosome Location	chr8:120786549-120787689
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	chr8:120786484..120788471-chr8:120793020..120795080,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560181689	chr8:120786569-120786570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527531907	chr8:120786648-120786649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369018069	chr8:120786700-120786701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560858884	chr8:120786701-120786702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560903433	chr8:120786713-120786714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531235797	chr8:120786714-120786715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11341544	chr8:120786719-120786720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs398009598	chr8:120786727-120786728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202216135	chr8:120786728-120786729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199946715	chr8:120786729-120786730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62526568	chr8:120786730-120786731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374715034	chr8:120786731-120786732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376146176	chr8:120786732-120786733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77833293	chr8:120786733-120786734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76198981	chr8:120786744-120786745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76817009	chr8:120786745-120786746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78938875	chr8:120786747-120786748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199823767	chr8:120786783-120786784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549452549	chr8:120786841-120786842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187309268	chr8:120786854-120786855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533349051	chr8:120786865-120786866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189593243	chr8:120786918-120786919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10110853	chr8:120787042-120787043	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs73702612	chr8:120787061-120787062	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs10110601	chr8:120787106-120787107	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373455802	chr8:120787138-120787139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550323442	chr8:120787141-120787142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150581628	chr8:120787164-120787165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531094366	chr8:120787170-120787171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139961519	chr8:120787237-120787238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556685229	chr8:120787247-120787248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578177821	chr8:120787295-120787296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545172004	chr8:120787330-120787331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536140196	chr8:120787382-120787383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553888337	chr8:120787410-120787411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572160588	chr8:120787436-120787437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143522463	chr8:120787440-120787441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548117781	chr8:120787458-120787459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373473976	chr8:120787519-120787520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548982074	chr8:120787520-120787521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59665180	chr8:120787538-120787539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566734915	chr8:120787569-120787570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17817611	chr8:120787611-120787612	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:155 , 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	chr8:120777800-120787200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr8:120779200-120790600	Weak transcription	HUVEC	blood vessel
17	chr8:120779400-120788800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:120780200-120786600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:120780200-120792600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:120780400-120787200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:120780400-120801200	Weak transcription	Brain Substantia Nigra	brain
22	chr8:120780600-120792000	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:120780800-120786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:120780800-120791800	Weak transcription	Stomach Mucosa	stomach
25	chr8:120781000-120786600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:120781000-120789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:120781000-120807000	Weak transcription	Brain Angular Gyrus	brain
28	chr8:120781000-120813800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:120781200-120787800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:120781200-120788000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:120781200-120788800	Weak transcription	K562	blood
32	chr8:120781200-120789600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:120781200-120790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:120781200-120790600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:120781200-120791200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:120781200-120792000	Weak transcription	A549	lung
37	chr8:120781200-120792000	Weak transcription	HSMMtube	muscle
38	chr8:120781200-120795000	Weak transcription	NHEK	skin
39	chr8:120781200-120795600	Weak transcription	HMEC	breast
40	chr8:120781200-120796400	Weak transcription	Pancreas	Pancrea
41	chr8:120781200-120801000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:120781200-120801400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:120781200-120804400	Weak transcription	Spleen	Spleen
44	chr8:120781200-120804600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:120781200-120807000	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:120781200-120807800	Weak transcription	NHLF	lung
47	chr8:120781200-120812800	Weak transcription	Colonic Mucosa	Colon
48	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:120781400-120786600	Weak transcription	Fetal Intestine Large	intestine
50	chr8:120781400-120786800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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