Variant report

Variant	nsv1009534
Chromosome Location	chr1:113856612-113920889
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113911404..113914976-chr1:113918740..113920937,3	MCF-7	breast:
2	chr1:113908670..113911236-chr1:113911521..113914710,4	K562	blood:
3	chr1:113866394..113868305-chr1:113883181..113885693,2	K562	blood:
4	chr1:113910418..113913126-chr1:113915545..113917653,2	K562	blood:
5	chr1:113912898..113914605-chr1:113928576..113931565,2	MCF-7	breast:
6	chr1:113888959..113891927-chr1:113893087..113895746,2	K562	blood:
7	chr1:113850253..113851874-chr1:113854261..113856811,2	K562	blood:
8	chr1:113911404..113914976-chr1:113918740..113920937,3	MCF-7	breast:
9	chr1:113870342..113873260-chr1:113880481..113882504,2	MCF-7	breast:
10	chr1:113871451..113873938-chr1:113877321..113878914,2	MCF-7	breast:
11	chr1:113908670..113911236-chr1:113911521..113914710,4	K562	blood:
12	chr1:113871451..113873938-chr1:113877321..113878914,2	MCF-7	breast:
13	chr1:113888959..113891927-chr1:113893087..113895746,2	K562	blood:
14	chr1:113868683..113870890-chr1:113874321..113875868,2	MCF-7	breast:
15	chr1:113916602..113917391-chr4:125633441..125634015,2	Hela-S3	cervix:
16	chr1:113870342..113873260-chr1:113880481..113882504,2	MCF-7	breast:
17	chr1:113910418..113913126-chr1:113915545..113917653,2	K562	blood:
18	chr1:113866394..113868305-chr1:113883181..113885693,2	K562	blood:
19	chr1:113872607..113875182-chr1:113931143..113933395,2	MCF-7	breast:
20	chr1:113868683..113870890-chr1:113874321..113875868,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081026	chromatin interactions
ENSG00000151458	chromatin interactions

Extended variants
information (count: 1139 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1139 , 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	rs1082075	chr1:113856612-113856613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181650998	chr1:113856650-113856651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150830374	chr1:113856674-113856675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113391757	chr1:113856693-113856694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530882383	chr1:113856719-113856720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551074740	chr1:113856730-113856731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531059775	chr1:113856745-113856746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1082076	chr1:113856761-113856762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561256318	chr1:113856792-113856793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546966436	chr1:113856808-113856809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12086096	chr1:113856853-113856854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564662963	chr1:113856882-113856883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187296594	chr1:113856886-113856887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532125124	chr1:113856897-113856898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376910752	chr1:113856902-113856903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112375946	chr1:113856937-113856938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568953887	chr1:113856952-113856953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35883554	chr1:113856956-113856957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113191494	chr1:113856957-113856958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71087177	chr1:113856973-113856974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537570741	chr1:113857007-113857008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554227032	chr1:113857043-113857044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573935464	chr1:113857140-113857141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192191837	chr1:113857165-113857166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149590762	chr1:113857201-113857202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573424845	chr1:113857238-113857239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545408986	chr1:113857331-113857332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76567460	chr1:113857355-113857356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113965032	chr1:113857356-113857357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544760146	chr1:113857357-113857358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561368533	chr1:113857420-113857421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529914827	chr1:113857471-113857472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540696813	chr1:113857490-113857491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77072720	chr1:113857513-113857514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374833197	chr1:113857553-113857554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560410112	chr1:113857588-113857589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115955117	chr1:113857644-113857645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554445606	chr1:113857646-113857647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568793912	chr1:113857724-113857725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531197273	chr1:113857842-113857843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76394555	chr1:113857875-113857876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185032919	chr1:113857904-113857905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569069875	chr1:113857910-113857911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567776481	chr1:113857928-113857929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367975987	chr1:113857935-113857936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536465037	chr1:113857948-113857949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553264578	chr1:113857957-113857958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12039095	chr1:113857970-113857971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs569613273	chr1:113857987-113857988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140076503	chr1:113858149-113858150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	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
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113851200-113868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:113862600-113862800	Enhancers	A549	lung
3	chr1:113862600-113864000	Enhancers	Fetal Intestine Small	intestine
4	chr1:113862600-113864000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:113862600-113864200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr1:113862800-113863200	Enhancers	Hela-S3	cervix
7	chr1:113862800-113863400	Active TSS	A549	lung
8	chr1:113862800-113863800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:113862800-113864200	Enhancers	Small Intestine	intestine
10	chr1:113862800-113866200	Enhancers	Placenta	Placenta
11	chr1:113863000-113864200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:113863000-113864600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:113863200-113866200	Weak transcription	Hela-S3	cervix
14	chr1:113863400-113864200	Flanking Active TSS	A549	lung
15	chr1:113863400-113864600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:113863400-113864800	Enhancers	Stomach Mucosa	stomach
17	chr1:113863600-113864000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:113863600-113864000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:113863600-113864200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:113863600-113864200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:113863600-113864400	Enhancers	Fetal Lung	lung
22	chr1:113863600-113864600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:113863600-113864800	Enhancers	Colonic Mucosa	Colon
24	chr1:113863800-113864000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:113863800-113864400	Enhancers	Fetal Heart	heart
26	chr1:113864000-113868600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:113864000-113869000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:113864200-113864800	Enhancers	A549	lung
29	chr1:113864200-113865800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:113864800-113865200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:113864800-113865200	Weak transcription	Colonic Mucosa	Colon
32	chr1:113864800-113865200	Weak transcription	A549	lung
33	chr1:113864800-113865800	Weak transcription	Stomach Mucosa	stomach
34	chr1:113865200-113865400	Enhancers	A549	lung
35	chr1:113865400-113867400	Weak transcription	A549	lung
36	chr1:113865800-113866400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:113865800-113866600	Enhancers	Stomach Mucosa	stomach
38	chr1:113866200-113866400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:113866200-113866400	Enhancers	Esophagus	oesophagus
40	chr1:113866200-113866400	Enhancers	Hela-S3	cervix
41	chr1:113866400-113866800	Weak transcription	Hela-S3	cervix
42	chr1:113866400-113867400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:113866400-113870200	Weak transcription	Esophagus	oesophagus
44	chr1:113866600-113868800	Weak transcription	Stomach Mucosa	stomach
45	chr1:113866800-113867400	Enhancers	Hela-S3	cervix
46	chr1:113866800-113870200	Enhancers	NHEK	skin
47	chr1:113866800-113870400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:113867400-113867600	Enhancers	Colonic Mucosa	Colon
49	chr1:113867400-113867800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:113867400-113867800	Flanking Active TSS	Hela-S3	cervix

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