Variant report

Variant	esv3348859
Chromosome Location	chr8:99509825-99528164
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99522297..99524358-chr8:99525451..99528433,2	K562	blood:
2	chr8:99522858..99524518-chr8:99525451..99527826,2	K562	blood:
3	chr8:99524025..99526128-chr8:99527392..99529757,2	MCF-7	breast:
4	chr8:99522297..99524358-chr8:99525451..99528433,2	K562	blood:
5	chr8:99520999..99522850-chr8:99534348..99536217,2	K562	blood:
6	chr8:99526234..99527955-chr8:99531276..99533264,2	MCF-7	breast:
7	chr8:99527652..99530534-chr8:99540063..99542504,2	MCF-7	breast:
8	chr8:99522858..99524518-chr8:99525451..99527826,2	K562	blood:
9	chr8:99524025..99526128-chr8:99527392..99529757,2	MCF-7	breast:
10	chr8:99522560..99525164-chr8:99531282..99533245,2	K562	blood:

No data

Extended variants
information (count: 634 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557717910	chr8:99509842-99509843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550736555	chr8:99509914-99509915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7015739	chr8:99509936-99509937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs138537521	chr8:99509973-99509974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183792467	chr8:99509991-99509992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377493537	chr8:99510039-99510040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6998166	chr8:99510084-99510085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559653639	chr8:99510090-99510091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117937055	chr8:99510136-99510137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549540262	chr8:99510139-99510140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568902314	chr8:99510146-99510147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537943998	chr8:99510150-99510151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372356917	chr8:99510213-99510214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187032834	chr8:99510224-99510225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547657167	chr8:99510250-99510251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577227764	chr8:99510265-99510266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374075412	chr8:99510296-99510297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533512317	chr8:99510309-99510310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575649846	chr8:99510376-99510377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191718606	chr8:99510377-99510378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80334684	chr8:99510380-99510381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4734408	chr8:99510439-99510440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144030919	chr8:99510458-99510459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575694460	chr8:99510521-99510522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146723375	chr8:99510543-99510544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564529148	chr8:99510600-99510601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184268198	chr8:99510608-99510609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189964024	chr8:99510627-99510628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560802634	chr8:99510643-99510644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182142475	chr8:99510659-99510660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549359662	chr8:99510748-99510749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149475729	chr8:99510749-99510750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7845395	chr8:99510803-99510804	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs76546043	chr8:99510826-99510827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570980355	chr8:99510848-99510849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185402480	chr8:99510863-99510864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143878485	chr8:99510883-99510884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567262956	chr8:99510893-99510894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540733434	chr8:99511000-99511001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536542646	chr8:99511009-99511010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556135593	chr8:99511031-99511032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576192276	chr8:99511203-99511204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190643237	chr8:99511325-99511326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148181785	chr8:99511353-99511354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77907373	chr8:99511354-99511355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73275823	chr8:99511397-99511398	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560490152	chr8:99511416-99511417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180736215	chr8:99511440-99511441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376174241	chr8:99511566-99511567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141149710	chr8:99511570-99511571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Cancer	20164919	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	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21611746	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99461800-99525000	Weak transcription	Psoas Muscle	Psoas
2	chr8:99486600-99536000	Weak transcription	Placenta	Placenta
3	chr8:99490400-99547600	Weak transcription	Ovary	ovary
4	chr8:99500200-99517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:99500400-99558800	Weak transcription	Aorta	Aorta
6	chr8:99503200-99530600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:99503200-99536200	Weak transcription	Liver	Liver
8	chr8:99504600-99536200	Weak transcription	Fetal Lung	lung
9	chr8:99506000-99519800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:99506200-99522400	Weak transcription	HSMMtube	muscle
11	chr8:99506600-99510600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:99506800-99518400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:99507800-99528200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:99509400-99525400	Weak transcription	Pancreas	Pancrea
15	chr8:99510600-99511600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:99511000-99518200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:99511600-99517400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:99515000-99550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:99515400-99517800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:99515600-99518600	Weak transcription	Fetal Intestine Large	intestine
21	chr8:99516000-99517600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:99516000-99542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:99516200-99517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:99516200-99543000	Weak transcription	GM12878-XiMat	blood
25	chr8:99516600-99525400	Weak transcription	Lung	lung
26	chr8:99516800-99542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:99517000-99518200	Weak transcription	Fetal Stomach	stomach
28	chr8:99517400-99517600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:99517400-99518000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:99517400-99519600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:99517600-99517800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:99517600-99518400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr8:99517600-99518600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:99517600-99520200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:99517800-99518000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:99517800-99519000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:99517800-99519200	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr8:99517800-99519200	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr8:99517800-99538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:99518000-99518600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:99518000-99522200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:99518200-99518400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
43	chr8:99518200-99518600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:99518200-99519000	ZNF genes & repeats	Fetal Stomach	stomach
45	chr8:99518400-99518800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:99518400-99519600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr8:99518400-99542800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:99518600-99525400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:99518800-99524600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:99518800-99551000	Weak transcription	Rectal Smooth Muscle	rectum

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