Variant report

Variant	nsv891415
Chromosome Location	chr8:119886923-119921354
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:119918824..119921066-chr8:119925326..119927068,2	MCF-7	breast:
2	chr8:119901946..119903477-chr8:119908187..119910521,2	MCF-7	breast:
3	chr8:119890957..119892807-chr8:119894460..119897666,3	K562	blood:
4	chr8:119921054..119923444-chr8:119928585..119930805,2	MCF-7	breast:
5	chr8:119897848..119900046-chr8:119910331..119912294,2	MCF-7	breast:
6	chr8:119886218..119887963-chr8:119888268..119891082,2	MCF-7	breast:
7	chr8:119872555..119876115-chr8:119889180..119893027,6	MCF-7	breast:
8	chr8:119918415..119920059-chr8:119920188..119921715,2	MCF-7	breast:
9	chr8:119918415..119920059-chr8:119920188..119921715,2	MCF-7	breast:
10	chr8:119890957..119892807-chr8:119894460..119897666,3	K562	blood:
11	chr8:119874098..119875081-chr8:119890625..119891353,4	MCF-7	breast:
12	chr8:119921061..119923064-chr8:119931822..119933473,2	MCF-7	breast:
13	chr8:119774477..119776730-chr8:119911450..119913806,2	MCF-7	breast:
14	chr8:119890715..119891617-chr8:119908895..119909909,3	MCF-7	breast:
15	chr8:119901946..119903477-chr8:119908187..119910521,2	MCF-7	breast:
16	chr8:119897848..119900046-chr8:119910331..119912294,2	MCF-7	breast:
17	chr8:119909435..119912198-chr8:119913488..119916244,2	MCF-7	breast:
18	chr8:119914374..119916588-chr8:119923602..119925267,2	MCF-7	breast:
19	chr8:119824076..119824696-chr8:119890843..119891698,2	MCF-7	breast:
20	chr8:119807404..119808990-chr8:119888408..119891375,2	MCF-7	breast:
21	chr8:119887309..119888948-chr8:119953395..119955293,2	MCF-7	breast:
22	chr8:119909629..119911189-chr8:119934739..119937482,2	MCF-7	breast:
23	chr8:119870985..119873020-chr8:119885150..119887019,2	MCF-7	breast:
24	chr8:119873726..119875943-chr8:119888839..119890975,3	MCF-7	breast:
25	chr8:119890715..119891617-chr8:119908895..119909909,3	MCF-7	breast:
26	chr8:119909435..119912198-chr8:119913488..119916244,2	MCF-7	breast:
27	chr8:119875843..119876422-chr8:119890324..119891255,2	MCF-7	breast:
28	chr8:119886218..119887963-chr8:119888268..119891082,2	MCF-7	breast:

No data

Extended variants
information (count: 1017 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:1017 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2055101	chr8:119886923-119886924	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566636477	chr8:119886947-119886948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376818103	chr8:119886949-119886950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151268591	chr8:119886973-119886974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548412092	chr8:119886977-119886978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140516166	chr8:119887024-119887025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373844248	chr8:119887037-119887038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573934509	chr8:119887084-119887085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76121677	chr8:119887087-119887088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184171115	chr8:119887111-119887112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533210368	chr8:119887115-119887116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117004993	chr8:119887127-119887128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77311756	chr8:119887167-119887168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535409621	chr8:119887181-119887182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556651700	chr8:119887194-119887195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189499401	chr8:119887214-119887215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78662235	chr8:119887219-119887220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75736696	chr8:119887221-119887222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150395373	chr8:119887307-119887308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377283978	chr8:119887349-119887350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3134096	chr8:119887364-119887365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550906641	chr8:119887415-119887416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569084038	chr8:119887417-119887418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201186731	chr8:119887435-119887436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181100814	chr8:119887451-119887452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78281774	chr8:119887500-119887501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566533389	chr8:119887501-119887502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533652951	chr8:119887555-119887556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138218300	chr8:119887569-119887570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10955903	chr8:119887679-119887680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143019523	chr8:119887703-119887704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10955904	chr8:119887713-119887714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10955905	chr8:119887720-119887721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10955906	chr8:119887759-119887760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185885672	chr8:119887794-119887795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145157935	chr8:119887863-119887864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10113497	chr8:119887866-119887867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556526363	chr8:119887922-119887923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539444642	chr8:119887941-119887942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577900382	chr8:119887971-119887972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149398465	chr8:119887986-119887987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560112812	chr8:119888030-119888031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4053390	chr8:119888058-119888059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3103983	chr8:119888090-119888091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147999144	chr8:119888099-119888100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35617243	chr8:119888121-119888122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529274076	chr8:119888141-119888142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150496511	chr8:119888152-119888153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562806858	chr8:119888157-119888158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140304593	chr8:119888175-119888176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
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	17603634	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
Cancer	20164920	CNVD
Breast cancer	20932292	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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119879000-119889800	Weak transcription	Pancreas	Pancrea
2	chr8:119879200-119889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:119879400-119890000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:119880800-119889600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:119882400-119889800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:119883200-119887400	Weak transcription	Fetal Kidney	kidney
7	chr8:119886200-119887800	Enhancers	Fetal Intestine Large	intestine
8	chr8:119886600-119887800	Enhancers	Fetal Intestine Small	intestine
9	chr8:119886800-119887200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:119887200-119889600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:119887400-119887600	Enhancers	Fetal Kidney	kidney
12	chr8:119887800-119888200	Weak transcription	Fetal Intestine Large	intestine
13	chr8:119887800-119888200	Weak transcription	Fetal Intestine Small	intestine
14	chr8:119888200-119890600	Enhancers	Fetal Intestine Small	intestine
15	chr8:119888200-119891800	Enhancers	Fetal Intestine Large	intestine
16	chr8:119888400-119888600	Enhancers	Small Intestine	intestine
17	chr8:119889000-119895200	Enhancers	Hela-S3	cervix
18	chr8:119889200-119890400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:119889600-119890200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:119889600-119890400	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:119889600-119890600	Enhancers	Stomach Mucosa	stomach
22	chr8:119889600-119891600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:119889600-119892000	Enhancers	HUVEC	blood vessel
24	chr8:119889600-119892400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:119889600-119895000	Enhancers	NHDF-Ad	bronchial
26	chr8:119889600-119895200	Enhancers	NHLF	lung
27	chr8:119889800-119890000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr8:119889800-119890200	Enhancers	Gastric	stomach
29	chr8:119889800-119890200	Enhancers	Pancreas	Pancrea
30	chr8:119889800-119890400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:119889800-119890400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:119889800-119891800	Enhancers	Osteobl	bone
33	chr8:119889800-119893200	Weak transcription	Aorta	Aorta
34	chr8:119890000-119890200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:119890000-119890400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:119890000-119891400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:119890000-119892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:119890200-119890600	Enhancers	HMEC	breast
39	chr8:119890200-119891000	Enhancers	A549	lung
40	chr8:119890200-119891000	Enhancers	NHEK	skin
41	chr8:119890200-119891200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:119890400-119891000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:119890400-119891200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr8:119890400-119891200	Enhancers	NH-A	brain
45	chr8:119890400-119891600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:119890400-119892600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:119890600-119891600	Weak transcription	Stomach Mucosa	stomach
48	chr8:119890600-119892600	Weak transcription	Fetal Intestine Small	intestine
49	chr8:119890800-119891000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:119890800-119891800	Enhancers	Liver	Liver

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