Variant report

Variant	nsv891236
Chromosome Location	chr8:103039917-103070301
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103040180..103042383-chr8:103042773..103045419,2	K562	blood:
2	chr8:103017031..103018627-chr8:103042578..103044684,2	K562	blood:
3	chr8:103053043..103055176-chr8:103059742..103061344,2	MCF-7	breast:
4	chr8:103045659..103047816-chr8:103052482..103055042,2	MCF-7	breast:
5	chr8:103062774..103065761-chr8:103066216..103068204,2	K562	blood:
6	chr8:103045077..103045953-chr8:103209208..103210205,5	MCF-7	breast:
7	chr8:103054616..103056405-chr8:103111193..103113703,2	MCF-7	breast:
8	chr8:102658411..102659082-chr8:103044751..103045545,2	MCF-7	breast:
9	chr8:103062774..103065761-chr8:103066216..103068204,2	K562	blood:
10	chr8:103044680..103045636-chr8:103079751..103080379,3	MCF-7	breast:
11	chr8:103040180..103042383-chr8:103042773..103045419,2	K562	blood:
12	chr8:103065341..103067614-chr8:103067758..103069814,2	MCF-7	breast:
13	chr8:103037680..103039955-chr8:103043079..103045109,2	K562	blood:
14	chr8:103018598..103021220-chr8:103040638..103042919,2	MCF-7	breast:
15	chr8:103049817..103051629-chr8:103058338..103060575,3	MCF-7	breast:
16	chr7:142098691..142099254-chr8:103045443..103046063,2	MCF-7	breast:
17	chr8:103045659..103047816-chr8:103052482..103055042,2	MCF-7	breast:
18	chr8:103037680..103039955-chr8:103043079..103045109,2	K562	blood:
19	chr8:103044931..103046316-chr8:103209230..103210787,8	MCF-7	breast:
20	chr8:103053043..103055176-chr8:103059742..103061344,2	MCF-7	breast:
21	chr8:103044933..103045692-chr8:103135558..103136538,3	MCF-7	breast:
22	chr8:103065341..103067614-chr8:103067758..103069814,2	MCF-7	breast:
23	chr8:103049817..103051629-chr8:103058338..103060575,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104490	chromatin interactions

Extended variants
information (count: 1119 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1119 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1269711	chr8:103039917-103039918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528041464	chr8:103039928-103039929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569618114	chr8:103040019-103040020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538077875	chr8:103040030-103040031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538535298	chr8:103040061-103040062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141311307	chr8:103040063-103040064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150794007	chr8:103040089-103040090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553941814	chr8:103040150-103040151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572439784	chr8:103040158-103040159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545774307	chr8:103040196-103040197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139215673	chr8:103040219-103040220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576321194	chr8:103040226-103040227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547772696	chr8:103040227-103040228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546696281	chr8:103040229-103040230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543660363	chr8:103040242-103040243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6468809	chr8:103040256-103040257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs74346728	chr8:103040297-103040298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548298220	chr8:103040449-103040450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559970464	chr8:103040479-103040480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566594952	chr8:103040483-103040484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377478801	chr8:103040484-103040485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527329372	chr8:103040486-103040487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191341354	chr8:103040490-103040491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369191815	chr8:103040569-103040570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184335674	chr8:103040632-103040633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549780796	chr8:103040645-103040646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554209069	chr8:103040654-103040655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116241043	chr8:103040688-103040689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145951316	chr8:103040753-103040754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188638294	chr8:103040767-103040768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574027006	chr8:103040801-103040802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1269710	chr8:103040822-103040823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555130750	chr8:103040860-103040861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377539987	chr8:103040881-103040882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78575234	chr8:103040925-103040926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557741284	chr8:103040991-103040992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575998134	chr8:103041096-103041097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139843838	chr8:103041100-103041101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555766193	chr8:103041169-103041170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533627427	chr8:103041181-103041182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60844168	chr8:103041197-103041198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181113302	chr8:103041221-103041222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539348298	chr8:103041299-103041300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146838654	chr8:103041353-103041354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530819691	chr8:103041358-103041359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545868566	chr8:103041388-103041389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186099800	chr8:103041399-103041400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370746588	chr8:103041459-103041460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118079289	chr8:103041460-103041461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148984298	chr8:103041462-103041463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103030600-103045000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:103036000-103041400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:103036200-103041400	Weak transcription	Psoas Muscle	Psoas
4	chr8:103036200-103046800	Weak transcription	Left Ventricle	heart
5	chr8:103036400-103046400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:103036800-103041800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:103037000-103042000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:103037000-103042400	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:103037000-103044000	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:103037400-103041800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:103037400-103046600	Weak transcription	Fetal Stomach	stomach
12	chr8:103037600-103041800	Weak transcription	Ovary	ovary
13	chr8:103037800-103041600	Weak transcription	Aorta	Aorta
14	chr8:103038600-103040200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:103039400-103047200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:103039400-103050400	Weak transcription	Right Ventricle	heart
17	chr8:103040200-103046400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:103040800-103042000	Enhancers	Adipose Nuclei	Adipose
19	chr8:103041000-103042600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:103041400-103041600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:103041400-103042000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:103041400-103042000	Enhancers	Psoas Muscle	Psoas
23	chr8:103041600-103042600	Enhancers	Aorta	Aorta
24	chr8:103041800-103042000	Enhancers	Ovary	ovary
25	chr8:103041800-103042600	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:103041800-103042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:103041800-103042800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:103042000-103042400	Weak transcription	Ovary	ovary
29	chr8:103042000-103043000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:103042000-103046600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:103042000-103046800	Weak transcription	Psoas Muscle	Psoas
32	chr8:103042000-103046800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:103042200-103042800	Enhancers	Liver	Liver
34	chr8:103042400-103042600	Enhancers	Colon Smooth Muscle	Colon
35	chr8:103042400-103042600	Enhancers	Ovary	ovary
36	chr8:103042600-103046200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:103042600-103046600	Weak transcription	Aorta	Aorta
38	chr8:103042600-103046600	Weak transcription	Ovary	ovary
39	chr8:103042800-103046200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:103044000-103045200	Enhancers	Fetal Muscle Leg	muscle
41	chr8:103044600-103046600	Weak transcription	Primary T cells from cord blood	blood
42	chr8:103045000-103045200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr8:103045200-103045800	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:103045600-103046600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:103045600-103046600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr8:103046200-103046600	Strong transcription	Stomach Smooth Muscle	stomach
47	chr8:103046200-103046800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:103046200-103050200	Weak transcription	Fetal Brain Female	brain
49	chr8:103046400-103047000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr8:103046400-103047400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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