Variant report

Variant	esv35145
Chromosome Location	chr8:53745838-53833571
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:53824182..53826447-chr8:53833370..53835967,2	K562	blood:
2	chr8:53751467..53754365-chr8:53754550..53756405,2	MCF-7	breast:
3	chr8:53763900..53765944-chr8:53767253..53769124,2	MCF-7	breast:
4	chr8:53742557..53744441-chr8:53753816..53756483,2	MCF-7	breast:
5	chr8:53805931..53807978-chr8:53816689..53818778,2	K562	blood:
6	chr8:53797993..53800966-chr8:53802377..53805640,4	K562	blood:
7	chr8:53784191..53786210-chr8:53800399..53802685,2	K562	blood:
8	chr8:53818664..53820384-chr8:53824102..53826762,2	K562	blood:
9	chr8:53775937..53778409-chr8:53784460..53787182,3	MCF-7	breast:
10	chr8:53805931..53807978-chr8:53816689..53818778,2	K562	blood:
11	chr8:53653974..53655794-chr8:53756951..53758784,2	MCF-7	breast:
12	chr8:53824182..53826447-chr8:53833370..53835967,2	K562	blood:
13	chr8:53818664..53820384-chr8:53824102..53826762,2	K562	blood:
14	chr8:53784191..53786210-chr8:53800399..53802685,2	K562	blood:
15	chr8:53797993..53800966-chr8:53802377..53805640,4	K562	blood:
16	chr8:53742398..53744549-chr8:53749329..53751637,2	K562	blood:
17	chr8:53751467..53754365-chr8:53754550..53756405,2	MCF-7	breast:
18	chr14:88237597..88238206-chr8:53793496..53793998,3	MCF-7	breast:
19	chr8:53738269..53739834-chr8:53754081..53756709,2	MCF-7	breast:
20	chr8:53763900..53765944-chr8:53767253..53769124,2	MCF-7	breast:
21	chr8:53775937..53778409-chr8:53784460..53787182,3	MCF-7	breast:

No data

Extended variants
information (count: 2010 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2010 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2884946	chr8:53745838-53745839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572892906	chr8:53745848-53745849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529359644	chr8:53745867-53745868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560121784	chr8:53745946-53745947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533643804	chr8:53745968-53745969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4292706	chr8:53745979-53745980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2884945	chr8:53746008-53746009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs530974122	chr8:53746015-53746016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147053464	chr8:53746110-53746111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372673557	chr8:53746121-53746122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534738717	chr8:53746132-53746133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138379382	chr8:53746141-53746142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533832289	chr8:53746187-53746188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143929000	chr8:53746196-53746197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571278191	chr8:53746204-53746205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189519507	chr8:53746208-53746209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76099149	chr8:53746224-53746225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181853900	chr8:53746225-53746226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542452045	chr8:53746237-53746238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554687371	chr8:53746268-53746269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185197182	chr8:53746272-53746273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376516322	chr8:53746285-53746286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189616474	chr8:53746346-53746347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539596021	chr8:53746395-53746396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564897801	chr8:53746406-53746407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532112551	chr8:53746426-53746427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201456975	chr8:53746437-53746438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201606148	chr8:53746440-53746441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369792671	chr8:53746449-53746450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566898570	chr8:53746450-53746451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397893095	chr8:53746451-53746452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397892892	chr8:53746452-53746453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35793738	chr8:53746453-53746454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370123494	chr8:53746469-53746470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556403623	chr8:53746496-53746497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576172661	chr8:53746501-53746502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531183258	chr8:53746508-53746509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17254973	chr8:53746525-53746526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567455970	chr8:53746577-53746578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11987899	chr8:53746596-53746597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182449625	chr8:53746631-53746632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571315557	chr8:53746678-53746679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186611976	chr8:53746681-53746682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557268608	chr8:53746714-53746715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569044659	chr8:53746727-53746728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191013673	chr8:53746732-53746733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201896444	chr8:53746773-53746774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4513995	chr8:53746783-53746784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573045336	chr8:53746795-53746796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540347768	chr8:53746796-53746797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53743600-53749400	Weak transcription	Fetal Thymus	thymus
2	chr8:53744400-53748200	Weak transcription	Primary T cells from cord blood	blood
3	chr8:53744600-53750400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:53744600-53752400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:53744800-53746000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:53744800-53748200	Weak transcription	Dnd41	blood
7	chr8:53744800-53750000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:53744800-53750000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:53744800-53750200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:53748200-53750200	Enhancers	Primary T cells from cord blood	blood
11	chr8:53748200-53750400	Enhancers	Dnd41	blood
12	chr8:53749200-53750400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:53749400-53752600	Enhancers	Fetal Thymus	thymus
14	chr8:53750000-53751400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:53750000-53752400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:53750000-53752600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:53750200-53750400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:53750200-53750600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:53750200-53751200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:53750200-53751200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:53750200-53751400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:53750200-53751400	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr8:53750200-53752400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:53750400-53750800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr8:53750400-53751000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:53750400-53751600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:53750400-53751600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:53750400-53751600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:53750400-53751600	Flanking Active TSS	Dnd41	blood
30	chr8:53750400-53751800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:53750400-53752000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr8:53750600-53751000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:53751400-53751800	Enhancers	Primary T cells from cord blood	blood
34	chr8:53751600-53752400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr8:53751600-53756400	Enhancers	Dnd41	blood
36	chr8:53751800-53752000	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr8:53752000-53752600	Enhancers	Primary T cells from cord blood	blood
38	chr8:53752000-53753800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:53752200-53754200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:53752400-53752600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:53752400-53753200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:53752400-53753600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:53752400-53754000	Enhancers	A549	lung
44	chr8:53752400-53754800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:53752600-53752800	Enhancers	Hela-S3	cervix
46	chr8:53752600-53753200	Enhancers	NHEK	skin
47	chr8:53752600-53753600	Weak transcription	Primary T cells from cord blood	blood
48	chr8:53752600-53753600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:53752600-53753600	Weak transcription	Fetal Thymus	thymus
50	chr8:53752800-53753800	Enhancers	HMEC	breast

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