Variant report

Variant	nsv1020673
Chromosome Location	chr8:52878946-52917469
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:52809196..52811979-chr8:52914393..52916351,2	MCF-7	breast:
2	chr8:52897910..52900253-chr8:52910017..52911981,2	MCF-7	breast:
3	chr8:52811794..52813477-chr8:52893629..52895891,2	MCF-7	breast:
4	chr8:52897910..52900253-chr8:52910017..52911981,2	MCF-7	breast:
5	chr8:52810673..52812861-chr8:52901606..52905084,3	MCF-7	breast:
6	chr8:52810755..52813318-chr8:52906832..52909651,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC090186.1-2	chr8:52886163-52886295	NONHSAT126546
2	lnc-AC090186.1-2	chr8:52888095-52888136	NONHSAT126547
3	lnc-PCMTD1-1	chr8:52908770-52908827	ENSG00000254136

No data

Variant related genes	Relation type
ENSG00000168300	chromatin interactions
ENSG00000228801	chromatin interactions

Extended variants
information (count: 1357 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1357 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58991163	chr8:52878985-52878986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113626074	chr8:52879016-52879017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187945439	chr8:52879017-52879018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375425455	chr8:52879031-52879032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559591567	chr8:52879042-52879043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576173480	chr8:52879053-52879054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77929507	chr8:52879070-52879071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115398091	chr8:52879075-52879076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58938717	chr8:52879084-52879085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577822786	chr8:52879099-52879100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545091712	chr8:52879207-52879208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558406983	chr8:52879247-52879248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533233843	chr8:52879256-52879257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576739626	chr8:52879257-52879258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540083010	chr8:52879283-52879284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374271285	chr8:52879351-52879352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111234213	chr8:52879374-52879375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190910221	chr8:52879383-52879384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143180500	chr8:52879389-52879390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148282123	chr8:52879428-52879429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78258395	chr8:52879468-52879469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541072860	chr8:52879533-52879534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182579421	chr8:52879552-52879553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78422554	chr8:52879600-52879601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551486067	chr8:52879662-52879663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569797725	chr8:52879664-52879665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58141697	chr8:52879677-52879678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529067149	chr8:52879684-52879685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187705716	chr8:52879687-52879688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146250333	chr8:52879696-52879697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192287544	chr8:52879735-52879736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138286852	chr8:52879737-52879738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185079549	chr8:52879738-52879739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117260142	chr8:52879746-52879747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565591811	chr8:52879774-52879775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142866303	chr8:52879777-52879778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557128676	chr8:52879807-52879808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575404116	chr8:52879813-52879814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543707070	chr8:52879904-52879905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74966390	chr8:52879941-52879942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574264763	chr8:52879958-52879959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375256229	chr8:52879992-52879993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570890020	chr8:52879993-52879994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559594078	chr8:52880000-52880001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533187528	chr8:52880067-52880068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544990395	chr8:52880097-52880098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186936653	chr8:52880169-52880170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80172906	chr8:52880191-52880192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530987509	chr8:52880252-52880253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548914670	chr8:52880325-52880326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52875400-52884800	Weak transcription	Pancreas	Pancrea
2	chr8:52875800-52886200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:52881600-52886200	Weak transcription	Psoas Muscle	Psoas
4	chr8:52882000-52882600	Weak transcription	Right Atrium	heart
5	chr8:52882800-52883000	Weak transcription	Right Atrium	heart
6	chr8:52883800-52884000	Enhancers	HepG2	liver
7	chr8:52884000-52885600	Weak transcription	HepG2	liver
8	chr8:52884800-52885400	Enhancers	Pancreas	Pancrea
9	chr8:52885000-52885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:52885200-52885400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:52885400-52886000	Weak transcription	Pancreas	Pancrea
12	chr8:52885400-52886400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:52885600-52886000	Enhancers	HepG2	liver
14	chr8:52885800-52886000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr8:52885800-52887000	Active TSS	Fetal Intestine Large	intestine
16	chr8:52886000-52886200	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:52886000-52886200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr8:52886000-52886200	Enhancers	Fetal Kidney	kidney
19	chr8:52886000-52886200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr8:52886000-52886200	Enhancers	Pancreas	Pancrea
21	chr8:52886000-52886200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:52886000-52886200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:52886000-52886200	Active TSS	Stomach Smooth Muscle	stomach
24	chr8:52886000-52886200	Enhancers	A549	lung
25	chr8:52886000-52886400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:52886000-52886400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:52886000-52886400	Enhancers	Primary T cells from cord blood	blood
28	chr8:52886000-52886400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:52886000-52886400	Enhancers	Liver	Liver
30	chr8:52886000-52886600	Active TSS	Fetal Intestine Small	intestine
31	chr8:52886000-52886600	Enhancers	Ovary	ovary
32	chr8:52886000-52886600	Enhancers	Stomach Mucosa	stomach
33	chr8:52886000-52886600	Enhancers	Dnd41	blood
34	chr8:52886000-52886800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:52886000-52886800	Enhancers	Fetal Lung	lung
36	chr8:52886000-52886800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr8:52886000-52886800	Flanking Active TSS	HepG2	liver
38	chr8:52886000-52886800	Enhancers	HUVEC	blood vessel
39	chr8:52886200-52886400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:52886200-52886400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr8:52886200-52886600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:52886200-52886600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:52886200-52886600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:52886200-52886600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:52886200-52886600	Enhancers	Adipose Nuclei	Adipose
46	chr8:52886200-52886600	Active TSS	Brain Anterior Caudate	brain
47	chr8:52886200-52886600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr8:52886200-52886600	Enhancers	Esophagus	oesophagus
49	chr8:52886200-52886600	Flanking Active TSS	Fetal Kidney	kidney
50	chr8:52886200-52886600	Enhancers	Fetal Muscle Leg	muscle

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