Variant report

Variant	esv1801781
Chromosome Location	chr8:48205935-48221673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48203786..48206533-chr8:48649304..48651747,5	MCF-7	breast:
2	chr8:48218179..48220522-chr8:48649833..48651549,2	MCF-7	breast:
3	chr8:48202864..48204570-chr8:48206625..48208490,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1134I14.8.1-5	chr8:48206456-48207017	NONHSAT126444
2	lnc-RP11-1134I14.8.1-5	chr8:48206456-48206619	NONHSAT126443

Variant related genes	Relation type
ENSG00000221869	chromatin interactions
ENSG00000164808	chromatin interactions

Extended variants
information (count: 366 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117658853	chr8:48205935-48205936	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374939138	chr8:48206234-48206235	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367797034	chr8:48206650-48206651	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs200873573	chr8:48206693-48206694	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs140107058	chr8:48207212-48207213	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375675539	chr8:48207229-48207230	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367910490	chr8:48207557-48207558	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373460269	chr8:48207854-48207855	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370561756	chr8:48208129-48208130	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374963121	chr8:48208205-48208206	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111731343	chr8:48208251-48208252	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372113695	chr8:48208280-48208281	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374806912	chr8:48208287-48208288	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368331222	chr8:48208331-48208332	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113832667	chr8:48208765-48208766	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200545176	chr8:48208865-48208866	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367824904	chr8:48208912-48208913	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370382649	chr8:48209259-48209260	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372469658	chr8:48209282-48209283	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587647902	chr8:48209906-48209907	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587719664	chr8:48209942-48209943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117008360	chr8:48209981-48209982	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587755124	chr8:48210040-48210041	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs587645526	chr8:48210041-48210042	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs587724336	chr8:48210047-48210048	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs370113084	chr8:48210211-48210212	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs199844851	chr8:48210465-48210466	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs201001292	chr8:48210550-48210551	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs201739199	chr8:48210682-48210683	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200059512	chr8:48210703-48210704	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201197531	chr8:48210723-48210724	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201962023	chr8:48211104-48211105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371855858	chr8:48211124-48211125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200340099	chr8:48211360-48211361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201225600	chr8:48211412-48211413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375209067	chr8:48211428-48211429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369120883	chr8:48211517-48211518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6473739	chr8:48211549-48211550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200632425	chr8:48211577-48211578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201058649	chr8:48211759-48211760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587714652	chr8:48211778-48211779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199678518	chr8:48212073-48212074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587765093	chr8:48212298-48212299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79247274	chr8:48212331-48212332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587644464	chr8:48212378-48212379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7388536	chr8:48212412-48212413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373097716	chr8:48212561-48212562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376860111	chr8:48212562-48212563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199509242	chr8:48212590-48212591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371573836	chr8:48212626-48212627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Lung cancer	18438408	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
low-grade B-cell lymphoma tumor	18367492	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
small cell lung cancer	20016488	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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48183200-48227800	Weak transcription	Stomach Mucosa	stomach
2	chr8:48189600-48225000	Weak transcription	HUVEC	blood vessel
3	chr8:48191400-48216600	Weak transcription	Colonic Mucosa	Colon
4	chr8:48193600-48210600	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr8:48195800-48206800	Weak transcription	Fetal Heart	heart
6	chr8:48196800-48216000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:48197600-48210600	Weak transcription	Right Ventricle	heart
8	chr8:48198200-48206200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:48198400-48210000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:48199000-48211400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:48199000-48215000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:48199200-48206600	Weak transcription	Psoas Muscle	Psoas
13	chr8:48199200-48206800	Weak transcription	Left Ventricle	heart
14	chr8:48199200-48206800	Weak transcription	Spleen	Spleen
15	chr8:48199200-48208400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:48199200-48210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:48199200-48215400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:48199200-48221800	Weak transcription	NHEK	skin
19	chr8:48199200-48227800	Weak transcription	HMEC	breast
20	chr8:48199400-48206800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:48199400-48207600	Weak transcription	Fetal Brain Male	brain
22	chr8:48199600-48209200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:48199600-48210400	Weak transcription	NHDF-Ad	bronchial
24	chr8:48199600-48215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:48200600-48209200	Strong transcription	Dnd41	blood
26	chr8:48200800-48210000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:48201600-48210000	Strong transcription	Fetal Intestine Large	intestine
28	chr8:48201800-48220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:48202000-48209800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:48202200-48209600	Strong transcription	Liver	Liver
31	chr8:48202800-48206200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr8:48202800-48208400	Strong transcription	Placenta	Placenta
33	chr8:48203000-48209600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:48203000-48210000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr8:48203200-48208800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:48203200-48208800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:48203400-48206600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:48203400-48206800	Strong transcription	Fetal Lung	lung
39	chr8:48203400-48207200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:48203400-48207400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:48203400-48208200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr8:48203400-48208600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:48203400-48208600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr8:48203400-48208800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:48203400-48209600	Strong transcription	A549	lung
46	chr8:48203400-48210000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:48203400-48210000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:48203600-48206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:48203600-48207000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:48203600-48207000	Strong transcription	Ovary	ovary

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