Variant report

Variant	esv2652228
Chromosome Location	chr8:99698427-99699863
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	chr8:99694270..99695935-chr8:99696598..99699256,2	MCF-7	breast:
2	chr8:99696324..99697957-chr8:99699839..99702337,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140502904	chr8:99698482-99698483	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs75526348	chr8:99698606-99698607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs79140208	chr8:99698607-99698608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs80279136	chr8:99698608-99698609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76809542	chr8:99698611-99698612	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs114977812	chr8:99698639-99698640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs145915637	chr8:99698666-99698667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373877794	chr8:99698667-99698668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs191898119	chr8:99698704-99698705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs553117948	chr8:99698728-99698729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs572949787	chr8:99698738-99698739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs183693456	chr8:99698806-99698807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs545446867	chr8:99698829-99698830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs530640490	chr8:99698854-99698855	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544144989	chr8:99698927-99698928	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145395629	chr8:99698936-99698937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs10098419	chr8:99698939-99698940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564389990	chr8:99698940-99698941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187834517	chr8:99698941-99698942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs546575579	chr8:99698969-99698970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs566516031	chr8:99699020-99699021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs367661928	chr8:99699026-99699027	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs367700038	chr8:99699060-99699061	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs73277807	chr8:99699068-99699069	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368354851	chr8:99699083-99699084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149197718	chr8:99699100-99699101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568640182	chr8:99699112-99699113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs561761031	chr8:99699128-99699129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs537655605	chr8:99699163-99699164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs530418236	chr8:99699242-99699243	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557302880	chr8:99699258-99699259	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114252750	chr8:99699292-99699293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs190993275	chr8:99699312-99699313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553321090	chr8:99699328-99699329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143324434	chr8:99699330-99699331	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541894024	chr8:99699380-99699381	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370635374	chr8:99699382-99699383	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs527885406	chr8:99699449-99699450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs118135239	chr8:99699455-99699456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575368198	chr8:99699470-99699471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544374178	chr8:99699476-99699477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564175662	chr8:99699477-99699478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533249676	chr8:99699484-99699485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563992318	chr8:99699496-99699497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532971340	chr8:99699516-99699517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540169219	chr8:99699520-99699521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74970667	chr8:99699544-99699545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55789014	chr8:99699546-99699547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375589990	chr8:99699549-99699550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182145091	chr8:99699606-99699607	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99676200-99738200	Weak transcription	Fetal Kidney	kidney
2	chr8:99676400-99700000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:99683200-99699200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:99683400-99699400	Weak transcription	Aorta	Aorta
5	chr8:99683400-99699400	Weak transcription	Placenta	Placenta
6	chr8:99683400-99699400	Weak transcription	Left Ventricle	heart
7	chr8:99683400-99699400	Weak transcription	Pancreas	Pancrea
8	chr8:99683400-99699600	Weak transcription	Fetal Stomach	stomach
9	chr8:99683400-99701600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:99683400-99712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:99683600-99712200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:99683600-99720400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:99683600-99738000	Weak transcription	NHEK	skin
14	chr8:99684000-99698800	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:99684000-99699400	Weak transcription	Fetal Intestine Large	intestine
16	chr8:99684000-99699400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:99684400-99699400	Weak transcription	Ovary	ovary
18	chr8:99684400-99704000	Weak transcription	Liver	Liver
19	chr8:99684400-99712600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:99689400-99703800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:99692800-99699400	Weak transcription	NHDF-Ad	bronchial
22	chr8:99692800-99705400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:99694400-99700800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:99694600-99699200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:99695200-99714600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:99695400-99705600	Weak transcription	Small Intestine	intestine
27	chr8:99696000-99712000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:99696400-99699200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:99698000-99699400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:99698400-99700000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:99698800-99700000	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr8:99698800-99700200	ZNF genes & repeats	GM12878-XiMat	blood
33	chr8:99699000-99699400	Weak transcription	Lung	lung
34	chr8:99699200-99700200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr8:99699200-99700200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
36	chr8:99699400-99699600	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr8:99699400-99699800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:99699400-99699800	ZNF genes & repeats	Aorta	Aorta
39	chr8:99699400-99699800	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr8:99699400-99699800	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr8:99699400-99699800	ZNF genes & repeats	Placenta	Placenta
42	chr8:99699400-99699800	ZNF genes & repeats	Left Ventricle	heart
43	chr8:99699400-99699800	ZNF genes & repeats	Lung	lung
44	chr8:99699400-99699800	ZNF genes & repeats	Ovary	ovary
45	chr8:99699400-99699800	ZNF genes & repeats	Pancreas	Pancrea
46	chr8:99699400-99699800	ZNF genes & repeats	NHDF-Ad	bronchial
47	chr8:99699400-99700200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr8:99699600-99699800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:99699600-99699800	ZNF genes & repeats	Fetal Stomach	stomach
50	chr8:99699800-99701600	Weak transcription	Fetal Intestine Small	intestine

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