Variant report

Variant	esv3411472
Chromosome Location	chr8:130496920-130498968
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	BHLHE40	chr8:130497277-130497416	K562	blood:	n/a	n/a
2	ELF1	chr8:130497081-130497442	K562	blood:	n/a	n/a
3	MAFK	chr8:130496738-130496926	HepG2	liver:	n/a	n/a
4	MAX	chr8:130497172-130497448	K562	blood:	n/a	n/a
5	POLR2A	chr8:130496865-130497430	K562	blood:	n/a	n/a
6	POLR2A	chr8:130495968-130497490	K562	blood:	n/a	n/a
7	POLR2A	chr8:130498065-130498228	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:130498699-130499554	K562	blood:	n/a	n/a
9	POLR2A	chr8:130498035-130498464	K562	blood:	n/a	n/a
10	SPI1	chr8:130494538-130497621	HL-60	blood:	n/a	chr8:130497295-130497308
11	SPI1	chr8:130497186-130497347	K562	blood:	n/a	chr8:130497295-130497308

Variant related genes	Relation type
MIR3686	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115036009	chr8:130497008-130497009	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111625301	chr8:130497061-130497062	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs57140545	chr8:130497067-130497068	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539357430	chr8:130497127-130497128	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs537219369	chr8:130497146-130497147	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs555956013	chr8:130497155-130497156	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs372436219	chr8:130497250-130497251	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557669309	chr8:130497251-130497252	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575734386	chr8:130497330-130497331	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs202073437	chr8:130497354-130497355	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs540622086	chr8:130497356-130497357	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs150575920	chr8:130497420-130497421	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561379181	chr8:130497428-130497429	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573244577	chr8:130497450-130497451	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs185515775	chr8:130497456-130497457	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs139982015	chr8:130497462-130497463	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs559542665	chr8:130497499-130497500	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs75742368	chr8:130497542-130497543	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs199754882	chr8:130497616-130497617	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs371585969	chr8:130497617-130497618	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs188774836	chr8:130497618-130497619	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376697007	chr8:130497693-130497694	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56374311	chr8:130497759-130497760	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs11778784	chr8:130497766-130497767	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191315048	chr8:130497773-130497774	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183850017	chr8:130497781-130497782	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200931183	chr8:130497819-130497820	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202159778	chr8:130497856-130497857	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567252505	chr8:130497864-130497865	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534761816	chr8:130497898-130497899	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139333837	chr8:130497937-130497938	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551114777	chr8:130497946-130497947	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60235966	chr8:130497951-130497952	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538834502	chr8:130497955-130497956	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149903888	chr8:130497965-130497966	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575971766	chr8:130497976-130497977	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536653074	chr8:130497991-130497992	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56023791	chr8:130497998-130497999	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569524673	chr8:130498017-130498018	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11987100	chr8:130498162-130498163	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs188611367	chr8:130498174-130498175	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs573147394	chr8:130498239-130498240	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs540757582	chr8:130498283-130498284	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs144969683	chr8:130498337-130498338	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs181361255	chr8:130498354-130498355	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs77509861	chr8:130498371-130498372	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs564282263	chr8:130498373-130498374	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs116978980	chr8:130498393-130498394	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs149020838	chr8:130498447-130498448	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs542508312	chr8:130498454-130498455	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
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
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
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
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130490200-130503400	Weak transcription	Dnd41	blood
2	chr8:130492800-130497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:130492800-130497200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:130493000-130497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:130493000-130497000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:130493400-130497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:130493600-130497000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:130493800-130497200	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:130495600-130497000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:130495600-130497600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:130495600-130499600	Genic enhancers	K562	blood
12	chr8:130496600-130497200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:130496600-130497400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:130496800-130497000	Enhancers	Brain Hippocampus Middle	brain
15	chr8:130496800-130497400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:130496800-130497400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:130496800-130497400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:130496800-130497600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:130496800-130497600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:130496800-130497600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:130497000-130497200	Enhancers	Thymus	Thymus
22	chr8:130497000-130497200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:130497000-130497400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:130497000-130497400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:130497000-130497400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:130497000-130497400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:130497000-130497600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:130497200-130497400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:130497200-130497400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr8:130497200-130497400	Enhancers	Colon Smooth Muscle	Colon
31	chr8:130497200-130497400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr8:130497200-130497600	Enhancers	Fetal Muscle Leg	muscle
33	chr8:130497200-130498400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:130497200-130504200	Weak transcription	Thymus	Thymus
35	chr8:130497400-130497600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr8:130497600-130499000	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:130497600-130500800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr8:130497600-130501000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:130497600-130503600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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