Variant report

Variant	nsv8435
Chromosome Location	chr1:10568184-10572374
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10570481..10573299-chr1:10599222..10600978,2	K562	blood:
2	chr1:10570193..10573088-chr1:10575798..10579645,3	MCF-7	breast:
3	chr1:10566008..10570273-chr1:10573569..10578315,6	K562	blood:
4	chr1:10569479..10571436-chr1:11070735..11072905,2	MCF-7	breast:
5	chr1:10534928..10537211-chr1:10567744..10569324,3	K562	blood:
6	chr1:10566900..10569422-chr1:10571271..10572995,2	K562	blood:
7	chr1:10568670..10571119-chr1:10926842..10928478,2	K562	blood:
8	chr1:10570574..10571091-chr1:10969959..10970645,2	K562	blood:
9	chr1:10568543..10570422-chr1:10582522..10585336,2	K562	blood:
10	chr1:10567638..10569716-chr1:10700234..10702656,2	K562	blood:
11	chr1:10570510..10573214-chr1:10855273..10856908,2	MCF-7	breast:
12	chr1:10566900..10569422-chr1:10571271..10572995,2	K562	blood:
13	chr1:10566397..10569050-chr1:10569611..10571606,2	MCF-7	breast:
14	chr1:10569482..10571483-chr1:10572910..10575292,2	MCF-7	breast:
15	chr1:10568015..10570793-chr1:10754272..10755934,2	MCF-7	breast:
16	chr1:10552985..10554515-chr1:10570159..10573130,2	K562	blood:
17	chr1:10571375..10572978-chr1:10573706..10575534,2	K562	blood:
18	chr1:10567723..10570074-chr1:10684964..10687923,2	K562	blood:
19	chr1:10566397..10569050-chr1:10569611..10571606,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142655	chromatin interactions
ENSG00000130940	chromatin interactions
ENSG00000120948	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2506880	chr1:10568277-10568278	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537106274	chr1:10568295-10568296	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141000462	chr1:10568318-10568319	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35313146	chr1:10568329-10568330	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1980933	chr1:10568462-10568463	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560373436	chr1:10568463-10568464	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs527621472	chr1:10568480-10568481	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548968112	chr1:10568487-10568488	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs574151000	chr1:10568496-10568497	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531390176	chr1:10568501-10568502	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549855076	chr1:10568502-10568503	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571293705	chr1:10568509-10568510	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540017691	chr1:10568527-10568528	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558093730	chr1:10568540-10568541	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs61777172	chr1:10568579-10568580	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377449311	chr1:10568588-10568589	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370843119	chr1:10568599-10568600	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534237049	chr1:10568613-10568614	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529400449	chr1:10568631-10568632	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1980932	chr1:10568636-10568637	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544322630	chr1:10568637-10568638	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs78820912	chr1:10568638-10568639	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533866853	chr1:10568662-10568663	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs545172693	chr1:10568696-10568697	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186661544	chr1:10568727-10568728	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs76186608	chr1:10568791-10568792	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191077344	chr1:10568871-10568872	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs565955553	chr1:10568916-10568917	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs531326016	chr1:10568917-10568918	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549555655	chr1:10568938-10568939	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs571296782	chr1:10568955-10568956	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550808470	chr1:10569000-10569001	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs60354536	chr1:10569001-10569002	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532139492	chr1:10569006-10569007	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs397700001	chr1:10569011-10569012	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs578173508	chr1:10569025-10569026	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183218122	chr1:10569032-10569033	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs545045685	chr1:10569057-10569058	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs375098167	chr1:10569078-10569079	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566745280	chr1:10569094-10569095	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111498172	chr1:10569112-10569113	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146392642	chr1:10569113-10569114	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs567668086	chr1:10569119-10569120	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs188565808	chr1:10569123-10569124	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs200079847	chr1:10569145-10569146	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs138498456	chr1:10569150-10569151	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs149603887	chr1:10569154-10569155	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs545196427	chr1:10569157-10569158	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs55738036	chr1:10569199-10569200	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs572280679	chr1:10569254-10569255	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10554800-10568600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:10555200-10568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:10555200-10568600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:10555200-10570000	Weak transcription	Aorta	Aorta
5	chr1:10555600-10568600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:10555600-10568600	Weak transcription	Pancreas	Pancrea
7	chr1:10555600-10568600	Weak transcription	HSMMtube	muscle
8	chr1:10555600-10570400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:10555600-10570400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:10555600-10570600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:10555800-10568600	Weak transcription	Esophagus	oesophagus
12	chr1:10555800-10569600	Weak transcription	Colonic Mucosa	Colon
13	chr1:10555800-10570400	Weak transcription	Brain Anterior Caudate	brain
14	chr1:10556000-10569400	Weak transcription	Fetal Brain Female	brain
15	chr1:10556000-10570200	Weak transcription	Brain Angular Gyrus	brain
16	chr1:10556400-10570200	Weak transcription	Fetal Kidney	kidney
17	chr1:10556600-10568600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:10556600-10570000	Weak transcription	Right Ventricle	heart
19	chr1:10556600-10570400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:10556600-10570400	Weak transcription	Stomach Mucosa	stomach
21	chr1:10557000-10569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:10557400-10568600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:10557600-10568800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:10557600-10569600	Weak transcription	HMEC	breast
25	chr1:10557600-10569600	Weak transcription	NHEK	skin
26	chr1:10557800-10569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:10557800-10569600	Weak transcription	NHLF	lung
28	chr1:10559000-10570600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:10559200-10570200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:10562600-10570000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:10562600-10570200	Weak transcription	Small Intestine	intestine
32	chr1:10562600-10570600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:10562800-10570000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:10564600-10568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:10564800-10569200	Weak transcription	HUVEC	blood vessel
36	chr1:10564800-10570000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:10564800-10570400	Weak transcription	Right Atrium	heart
38	chr1:10564800-10570600	Weak transcription	Lung	lung
39	chr1:10565400-10568600	Weak transcription	Left Ventricle	heart
40	chr1:10566400-10568200	Enhancers	Fetal Intestine Large	intestine
41	chr1:10566400-10577800	Enhancers	Fetal Thymus	thymus
42	chr1:10566800-10568400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:10566800-10579800	Enhancers	Liver	Liver
44	chr1:10567000-10570000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr1:10567000-10570600	Enhancers	GM12878-XiMat	blood
46	chr1:10567200-10568200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr1:10567200-10568200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:10567200-10568800	Enhancers	HepG2	liver
49	chr1:10567200-10569000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr1:10567200-10569800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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