Variant report

Variant	esv3498939
Chromosome Location	chr8:130434470-130444018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130433486..130436461-chr8:130437244..130438809,2	K562	blood:
2	chr8:130433486..130436461-chr8:130437244..130438809,2	K562	blood:
3	chr8:130324110..130326533-chr8:130436449..130439248,2	K562	blood:
4	chr8:130429538..130431900-chr8:130434547..130436688,2	MCF-7	breast:
5	chr11:62608631..62609567-chr8:130435702..130436693,2	NB4	blood:
6	chr8:130432582..130435209-chr8:130544896..130547721,2	K562	blood:
7	chr8:130438496..130440259-chr8:130595633..130598498,2	K562	blood:
8	chr8:130438946..130441544-chr8:130456592..130459697,3	K562	blood:
9	chr8:130443086..130445932-chr8:130472163..130473857,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133316	chromatin interactions

Extended variants
information (count: 347 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544552065	chr8:130434548-130434549	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369952834	chr8:130434553-130434554	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530179741	chr8:130434581-130434582	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116137695	chr8:130434623-130434624	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371981920	chr8:130434656-130434657	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150795305	chr8:130434687-130434688	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528323144	chr8:130434702-130434703	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546913452	chr8:130434724-130434725	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115093312	chr8:130434747-130434748	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12545968	chr8:130434763-130434764	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186803959	chr8:130434770-130434771	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12543679	chr8:130434816-130434817	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34762338	chr8:130434830-130434831	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372383073	chr8:130434840-130434841	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535910673	chr8:130434868-130434869	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114210429	chr8:130434877-130434878	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192211370	chr8:130434880-130434881	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139204570	chr8:130434899-130434900	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115236524	chr8:130434906-130434907	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72712593	chr8:130434931-130434932	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149497807	chr8:130434942-130434943	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538176725	chr8:130434987-130434988	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556484697	chr8:130434988-130434989	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574773310	chr8:130435037-130435038	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542319841	chr8:130435071-130435072	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560614976	chr8:130435109-130435110	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573065847	chr8:130435163-130435164	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73709741	chr8:130435165-130435166	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564935219	chr8:130435190-130435191	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140362412	chr8:130435219-130435220	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79436700	chr8:130435269-130435270	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562491313	chr8:130435270-130435271	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144287728	chr8:130435294-130435295	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547881260	chr8:130435328-130435329	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566274330	chr8:130435372-130435373	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117772225	chr8:130435377-130435378	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147804825	chr8:130435383-130435384	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116542519	chr8:130435469-130435470	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538512950	chr8:130435482-130435483	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115924314	chr8:130435500-130435501	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574881842	chr8:130435539-130435540	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535892555	chr8:130435564-130435565	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1118872	chr8:130435581-130435582	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572526718	chr8:130435598-130435599	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543963875	chr8:130435614-130435615	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139446031	chr8:130435615-130435616	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565058542	chr8:130435635-130435636	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576999816	chr8:130435651-130435652	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544478409	chr8:130435654-130435655	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142516584	chr8:130435665-130435666	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

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

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130427000-130449000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130429400-130437600	Enhancers	Dnd41	blood
4	chr8:130430200-130435600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:130431200-130436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:130431600-130435800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:130432800-130436600	Enhancers	Fetal Thymus	thymus
8	chr8:130433000-130435200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:130433000-130435400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:130433200-130434600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:130433200-130436600	Genic enhancers	K562	blood
12	chr8:130433400-130434600	Weak transcription	Right Atrium	heart
13	chr8:130434200-130435600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:130434200-130436400	Enhancers	Thymus	Thymus
15	chr8:130434600-130434800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:130434600-130434800	Enhancers	Fetal Muscle Trunk	muscle
17	chr8:130434600-130435000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr8:130434600-130435200	Enhancers	Right Atrium	heart
19	chr8:130434600-130435200	Enhancers	Spleen	Spleen
20	chr8:130434800-130435400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:130434800-130443800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:130435000-130435400	Enhancers	Adipose Nuclei	Adipose
23	chr8:130435200-130435600	Weak transcription	Spleen	Spleen
24	chr8:130435200-130436600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:130435200-130436600	Weak transcription	Right Atrium	heart
26	chr8:130435400-130436200	Enhancers	Fetal Muscle Trunk	muscle
27	chr8:130435600-130436000	Enhancers	Spleen	Spleen
28	chr8:130436000-130436400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:130436400-130443800	Weak transcription	Thymus	Thymus
30	chr8:130436600-130443800	Weak transcription	K562	blood
31	chr8:130437600-130439400	Weak transcription	Dnd41	blood
32	chr8:130439400-130440000	Enhancers	Dnd41	blood
33	chr8:130440000-130443400	Weak transcription	Dnd41	blood
34	chr8:130443200-130443600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:130443400-130446400	Enhancers	Dnd41	blood
36	chr8:130443800-130444200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:130443800-130444200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:130443800-130444200	ZNF genes & repeats	K562	blood
39	chr8:130443800-130444400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:130443800-130444400	ZNF genes & repeats	Thymus	Thymus
41	chr8:130443800-130444600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:130444000-130444200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:130444000-130444600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:130444000-130444800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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