Variant report

Variant	esv12665
Chromosome Location	chr8:96079304-96081691
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:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96035647..96037410-chr8:96078050..96080664,2	K562	blood:
2	chr8:96076049..96080036-chr8:96278718..96282595,5	MCF-7	breast:
3	chr8:96078349..96080804-chr8:96101841..96104257,3	K562	blood:
4	chr20:46129164..46131854-chr8:96077259..96079857,2	MCF-7	breast:
5	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:
6	chr8:96076398..96079120-chr8:96079944..96081555,2	K562	blood:
7	chr8:96075220..96081525-chr8:96145144..96151005,16	MCF-7	breast:
8	chr8:96037219..96038721-chr8:96077745..96080325,2	MCF-7	breast:
9	chr17:58537718..58539624-chr8:96080020..96082836,2	MCF-7	breast:
10	chr8:96079167..96081297-chr8:96267070..96269403,2	MCF-7	breast:
11	chr8:96071292..96073984-chr8:96078454..96081250,3	K562	blood:
12	chr8:95958396..95961086-chr8:96079770..96081416,2	MCF-7	breast:
13	chr8:96079342..96079849-chr8:96171843..96172496,2	MCF-7	breast:
14	chr8:96079008..96081719-chr8:96123344..96126236,2	K562	blood:
15	chr8:96077808..96080245-chr8:96234205..96235808,2	MCF-7	breast:
16	chr8:96078172..96080522-chr8:96236324..96239006,2	MCF-7	breast:
17	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
18	chr8:96078403..96080929-chr8:96218241..96220291,2	MCF-7	breast:
19	chr8:95961629..95965113-chr8:96078252..96080869,3	MCF-7	breast:
20	chr8:96079753..96081863-chr8:96250255..96253131,2	MCF-7	breast:
21	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
22	chr8:96077355..96081323-chr8:96161993..96165637,3	MCF-7	breast:
23	chr8:96072280..96082057-chr8:96143406..96150431,26	MCF-7	breast:
24	chr8:96079089..96080992-chr8:96128939..96131322,2	MCF-7	breast:
25	chr17:57915678..57917429-chr8:96079112..96080847,2	MCF-7	breast:
26	chr8:96079846..96082376-chr8:96152010..96153617,2	MCF-7	breast:
27	chr8:96081390..96083933-chr8:96088865..96090424,2	K562	blood:
28	chr8:96035307..96037631-chr8:96076077..96079417,3	MCF-7	breast:
29	chr8:96079160..96082761-chr8:96145231..96147675,3	K562	blood:
30	chr8:95960626..95963944-chr8:96078458..96081828,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53INP1-1	chr8:96079036-96081463	ENSG00000245080
2	lnc-TP53INP1-1	chr8:96081152-96081463	ENSG00000245080

No data

Variant related genes	Relation type
ENSG00000175895	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000164938	chromatin interactions
ENSG00000253878	chromatin interactions
ENSG00000156170	chromatin interactions
ENSG00000253773	chromatin interactions
ENSG00000156172	chromatin interactions
HSPBAP1	miRNA target sites
STAG2	miRNA target sites

Extended variants
information (count: 79 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536868254	chr8:96079341-96079342	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs557165484	chr8:96079361-96079362	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs570987546	chr8:96079404-96079405	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs373468678	chr8:96079432-96079433	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs28710788	chr8:96079481-96079482	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553446519	chr8:96079485-96079486	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs573155390	chr8:96079491-96079492	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
8	rs561864105	chr8:96079516-96079517	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs376881195	chr8:96079632-96079633	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs372387817	chr8:96079664-96079665	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs117384821	chr8:96079677-96079678	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs141891611	chr8:96079678-96079679	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs544421504	chr8:96079698-96079699	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs56097345	chr8:96079756-96079757	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs111422999	chr8:96079763-96079764	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs576563213	chr8:96079797-96079798	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs376718561	chr8:96079811-96079812	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs540734148	chr8:96079815-96079816	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs190122251	chr8:96079840-96079841	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs182340499	chr8:96079873-96079874	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
21	rs528077207	chr8:96079879-96079880	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
22	rs554623812	chr8:96079889-96079890	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
23	rs201521136	chr8:96079961-96079962	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
24	rs74994009	chr8:96080013-96080014	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
25	rs200319294	chr8:96080020-96080021	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
26	rs28569283	chr8:96080030-96080031	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568164405	chr8:96080059-96080060	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs570652278	chr8:96080068-96080069	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs369111797	chr8:96080091-96080092	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs76850292	chr8:96080129-96080130	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs4434594	chr8:96080142-96080143	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs563320028	chr8:96080155-96080156	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs142097718	chr8:96080171-96080172	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs186628425	chr8:96080179-96080180	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs146400615	chr8:96080213-96080214	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs139741609	chr8:96080237-96080238	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs73278569	chr8:96080247-96080248	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557968739	chr8:96080253-96080254	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs532496627	chr8:96080307-96080308	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs577811901	chr8:96080320-96080321	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs13279040	chr8:96080389-96080390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs559199839	chr8:96080417-96080418	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs192522126	chr8:96080418-96080419	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs185734896	chr8:96080479-96080480	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs561710142	chr8:96080539-96080540	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs189013327	chr8:96080633-96080634	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs550892844	chr8:96080709-96080710	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs564329310	chr8:96080726-96080727	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs370938056	chr8:96080729-96080730	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs192969726	chr8:96080861-96080862	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
2	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:96062000-96083800	Weak transcription	Fetal Brain Male	brain
4	chr8:96062600-96079800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:96062800-96079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:96062800-96080200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:96063800-96080400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:96063800-96081400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:96064000-96079800	Weak transcription	Brain Substantia Nigra	brain
10	chr8:96064600-96080200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:96064800-96079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:96068800-96082200	Weak transcription	Fetal Brain Female	brain
13	chr8:96070600-96079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:96070600-96079800	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:96070600-96079800	Weak transcription	Esophagus	oesophagus
16	chr8:96070600-96079800	Weak transcription	Spleen	Spleen
17	chr8:96071000-96080000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:96071000-96080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:96071200-96079600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:96071200-96079800	Weak transcription	Brain Anterior Caudate	brain
21	chr8:96071200-96079800	Weak transcription	Right Ventricle	heart
22	chr8:96071200-96080600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:96071200-96084600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:96071200-96085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:96071400-96079600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:96071400-96079800	Weak transcription	Lung	lung
27	chr8:96071600-96079800	Weak transcription	Fetal Thymus	thymus
28	chr8:96071600-96081200	Weak transcription	Brain Germinal Matrix	brain
29	chr8:96071600-96083000	Weak transcription	Primary B cells from cord blood	blood
30	chr8:96071600-96084200	Weak transcription	GM12878-XiMat	blood
31	chr8:96071800-96079800	Weak transcription	Fetal Lung	lung
32	chr8:96071800-96083200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:96071800-96084800	Weak transcription	Thymus	Thymus
34	chr8:96072000-96079400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:96072400-96085000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:96073400-96079600	Weak transcription	Left Ventricle	heart
37	chr8:96074800-96081400	Enhancers	Stomach Mucosa	stomach
38	chr8:96075000-96080000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:96075000-96080400	Weak transcription	Fetal Kidney	kidney
40	chr8:96075000-96081200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:96075200-96080200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:96075200-96084800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:96075400-96079800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:96076600-96079400	Enhancers	HepG2	liver
45	chr8:96076600-96081000	Enhancers	Fetal Intestine Large	intestine
46	chr8:96076800-96081200	Enhancers	Fetal Intestine Small	intestine
47	chr8:96076800-96081400	Enhancers	Placenta	Placenta
48	chr8:96077200-96079600	Enhancers	K562	blood
49	chr8:96077400-96079600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:96077400-96079800	Enhancers	Rectal Mucosa Donor 31	rectum

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