Variant report

Variant	esv3430552
Chromosome Location	chr8:117762521-117764519
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	chr8:117763503..117766300-chr8:117766342..117768471,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147677	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199691940	chr8:117762528-117762529	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200740856	chr8:117762529-117762530	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540141741	chr8:117762608-117762609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561611285	chr8:117762626-117762627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78632739	chr8:117762642-117762643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375016879	chr8:117762643-117762644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113949937	chr8:117762646-117762647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79063660	chr8:117762665-117762666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528928213	chr8:117762688-117762689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371223289	chr8:117762698-117762699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562634931	chr8:117762703-117762704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386729081	chr8:117762709-117762710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376667438	chr8:117762734-117762735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185909161	chr8:117762735-117762736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551473194	chr8:117762742-117762743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140639237	chr8:117762795-117762796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534347734	chr8:117762809-117762810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549739320	chr8:117762810-117762811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543057212	chr8:117762834-117762835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567861520	chr8:117762839-117762840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547699769	chr8:117762840-117762841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538266370	chr8:117762863-117762864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556268523	chr8:117762870-117762871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577938212	chr8:117762884-117762885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538772715	chr8:117762910-117762911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553804381	chr8:117762930-117762931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191985100	chr8:117762938-117762939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531673375	chr8:117762950-117762951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201671059	chr8:117762962-117762963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11781970	chr8:117762990-117762991	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs62510193	chr8:117762998-117762999	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs72683626	chr8:117763140-117763141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114586183	chr8:117763141-117763142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544458256	chr8:117763174-117763175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62510194	chr8:117763178-117763179	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532892952	chr8:117763179-117763180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183329946	chr8:117763180-117763181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551509860	chr8:117763209-117763210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187668029	chr8:117763217-117763218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373329243	chr8:117763222-117763223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527937421	chr8:117763239-117763240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567395408	chr8:117763246-117763247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111514038	chr8:117763259-117763260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561204550	chr8:117763289-117763290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530232074	chr8:117763320-117763321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375292004	chr8:117763324-117763325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371059577	chr8:117763399-117763400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550424915	chr8:117763408-117763409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571556721	chr8:117763445-117763446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538609710	chr8:117763446-117763447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
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
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
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
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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	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
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	22341455	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	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
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
2	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
3	chr8:117734400-117766800	Weak transcription	Fetal Stomach	stomach
4	chr8:117734600-117766200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:117734600-117766400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:117734600-117766800	Weak transcription	Fetal Intestine Small	intestine
7	chr8:117734600-117767200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:117734800-117766200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:117735000-117766000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:117735000-117766200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:117737400-117766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:117737600-117766800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:117737800-117767200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:117738200-117766400	Weak transcription	Placenta	Placenta
15	chr8:117738400-117764200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:117739000-117766000	Weak transcription	Liver	Liver
17	chr8:117741000-117766800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:117741200-117764400	Weak transcription	HepG2	liver
19	chr8:117741200-117767400	Weak transcription	Aorta	Aorta
20	chr8:117742800-117766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:117742800-117767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:117744000-117766800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:117744200-117766400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:117744400-117766200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:117745600-117766600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:117745600-117766800	Weak transcription	Right Ventricle	heart
27	chr8:117745800-117765800	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:117748000-117764000	Weak transcription	HMEC	breast
29	chr8:117748200-117767000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:117748200-117767400	Weak transcription	Lung	lung
31	chr8:117748400-117766800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:117748600-117763600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:117748800-117765800	Weak transcription	HUVEC	blood vessel
34	chr8:117748800-117766800	Weak transcription	Psoas Muscle	Psoas
35	chr8:117749000-117766800	Weak transcription	Fetal Intestine Large	intestine
36	chr8:117752600-117765600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:117752600-117766600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:117752800-117766400	Weak transcription	Small Intestine	intestine
39	chr8:117752800-117766800	Weak transcription	Brain Substantia Nigra	brain
40	chr8:117752800-117766800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:117753000-117766000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:117753200-117765800	Weak transcription	NHLF	lung
43	chr8:117753200-117766200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:117753200-117766600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:117753200-117766800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:117753200-117766800	Weak transcription	Brain Germinal Matrix	brain
47	chr8:117753200-117766800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:117753200-117766800	Weak transcription	HSMM	muscle
49	chr8:117753200-117766800	Weak transcription	NHDF-Ad	bronchial
50	chr8:117753200-117767200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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