Variant report

Variant	esv3328117
Chromosome Location	chr8:107706001-107708174
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	chr8:107700975..107704307-chr8:107704441..107706553,4	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550422231	chr8:107706028-107706029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371289906	chr8:107706034-107706035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550597969	chr8:107706038-107706039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569251376	chr8:107706054-107706055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529083769	chr8:107706112-107706113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570247061	chr8:107706156-107706157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532175810	chr8:107706173-107706174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368025501	chr8:107706196-107706197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536130858	chr8:107706216-107706217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371756899	chr8:107706218-107706219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554739907	chr8:107706240-107706241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566505860	chr8:107706244-107706245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534016405	chr8:107706309-107706310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34127438	chr8:107706329-107706330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7820703	chr8:107706398-107706399	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539357459	chr8:107706400-107706401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1784489	chr8:107706437-107706438	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537825337	chr8:107706439-107706440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555851262	chr8:107706449-107706450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568993816	chr8:107706518-107706519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2930503	chr8:107706525-107706526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542912543	chr8:107706562-107706563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372053207	chr8:107706619-107706620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561666954	chr8:107706643-107706644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185984333	chr8:107706666-107706667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536217615	chr8:107706685-107706686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540456481	chr8:107706686-107706687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28870517	chr8:107706687-107706688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182537123	chr8:107706692-107706693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199934743	chr8:107706716-107706717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185335481	chr8:107706761-107706762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369164164	chr8:107706832-107706833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143754064	chr8:107706834-107706835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533840734	chr8:107706870-107706871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190776308	chr8:107706908-107706909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58196967	chr8:107706923-107706924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373695474	chr8:107706942-107706943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373010872	chr8:107706943-107706944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376698085	chr8:107706950-107706951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377039878	chr8:107706952-107706953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57678977	chr8:107706963-107706964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193223872	chr8:107706980-107706981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183485504	chr8:107706982-107706983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35495820	chr8:107706998-107706999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370128376	chr8:107707001-107707002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373339552	chr8:107707002-107707003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376224211	chr8:107707003-107707004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374430808	chr8:107707005-107707006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61351899	chr8:107707006-107707007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370618605	chr8:107707007-107707008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Gastric cancer	17908304	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
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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
2	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:107677600-107709400	Weak transcription	Pancreas	Pancrea
4	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
6	chr8:107681200-107730200	Weak transcription	Small Intestine	intestine
7	chr8:107683800-107718800	Weak transcription	Hela-S3	cervix
8	chr8:107686000-107709200	Weak transcription	Gastric	stomach
9	chr8:107686200-107709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:107686400-107709000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:107686400-107709000	Weak transcription	Esophagus	oesophagus
12	chr8:107686400-107709000	Weak transcription	Spleen	Spleen
13	chr8:107686600-107709000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:107686600-107709000	Weak transcription	Fetal Stomach	stomach
15	chr8:107686600-107711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:107687200-107707600	Weak transcription	Fetal Intestine Small	intestine
17	chr8:107687200-107709000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:107688000-107713000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:107688600-107709200	Weak transcription	Aorta	Aorta
20	chr8:107688600-107718600	Weak transcription	Stomach Mucosa	stomach
21	chr8:107690200-107730600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:107690400-107709200	Weak transcription	Ovary	ovary
23	chr8:107691600-107718600	Weak transcription	K562	blood
24	chr8:107692000-107738400	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:107692600-107706400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:107692800-107725800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:107693000-107709800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:107693600-107706600	Strong transcription	Liver	Liver
29	chr8:107694600-107719000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:107694600-107738000	Weak transcription	Fetal Heart	heart
31	chr8:107695000-107725800	Weak transcription	NHLF	lung
32	chr8:107695800-107718600	Weak transcription	NHEK	skin
33	chr8:107696000-107718800	Weak transcription	A549	lung
34	chr8:107696000-107737200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:107696200-107718800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:107697200-107709400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:107697400-107709200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:107697800-107707800	Weak transcription	Placenta	Placenta
39	chr8:107697800-107718400	Weak transcription	HUVEC	blood vessel
40	chr8:107697800-107718800	Weak transcription	Osteobl	bone
41	chr8:107697800-107719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:107697800-107723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:107698000-107709400	Weak transcription	Left Ventricle	heart
44	chr8:107698000-107718600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:107698000-107718600	Weak transcription	NH-A	brain
46	chr8:107698000-107719000	Weak transcription	Fetal Kidney	kidney
47	chr8:107698000-107723000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:107698200-107706400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:107698200-107708400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:107698200-107709400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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