Variant report

Variant	esv13773
Chromosome Location	chr1:113220144-113225122
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:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113220341..113222791-chr1:113241628..113243660,3	MCF-7	breast:
2	chr1:113214866..113222565-chr1:113237012..113253952,54	K562	blood:
3	chr1:113160799..113166409-chr1:113215716..113220433,9	K562	blood:
4	chr1:113160823..113162360-chr1:113220552..113222913,2	K562	blood:
5	chr1:113192182..113194200-chr1:113220715..113222774,2	K562	blood:
6	chr1:113215712..113221627-chr1:113253708..113259381,5	MCF-7	breast:
7	chr1:113216623..113219353-chr1:113219400..113223773,8	MCF-7	breast:
8	chr1:113214002..113222947-chr1:113236890..113251579,47	MCF-7	breast:
9	chr1:113214590..113222957-chr1:113244863..113253590,39	MCF-7	breast:
10	chr1:113157097..113164348-chr1:113214570..113220795,12	MCF-7	breast:
11	chr1:113219322..113221022-chr1:113234172..113236829,2	K562	blood:
12	chr1:113217617..113223835-chr1:113226384..113230990,8	MCF-7	breast:
13	chr1:113158395..113164969-chr1:113214433..113222934,24	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPZA1-1	chr1:113221875-113222016	NONHSAT005267
2	lnc-CAPZA1-1	chr1:113221875-113222012	NONHSAT005268
3	lnc-CAPZA1-1	chr1:113221085-113221129	NONHSAT005267

No data

Variant related genes	Relation type
ENSG00000155363	chromatin interactions
ENSG00000261595	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000225075	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000155366	chromatin interactions
ENSG00000271810	chromatin interactions
ENSG00000155367	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117984661	chr1:113220177-113220178	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs149747863	chr1:113220178-113220179	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs187980938	chr1:113220239-113220240	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs147837844	chr1:113220242-113220243	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs141434344	chr1:113220299-113220300	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs542893964	chr1:113220303-113220304	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs115907417	chr1:113220395-113220396	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs559343732	chr1:113220418-113220419	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs573312779	chr1:113220433-113220434	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs115522720	chr1:113220444-113220445	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs564606352	chr1:113220514-113220515	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs528873965	chr1:113220536-113220537	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs72701107	chr1:113220560-113220561	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191253246	chr1:113220599-113220600	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs560886461	chr1:113220623-113220624	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs563316267	chr1:113220636-113220637	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs530638302	chr1:113220640-113220641	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs369417662	chr1:113220642-113220643	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs546528231	chr1:113220662-113220663	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs548829434	chr1:113220676-113220677	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs566667843	chr1:113220693-113220694	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs111522151	chr1:113220722-113220723	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs532172421	chr1:113220773-113220774	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs551925494	chr1:113220875-113220876	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs550893515	chr1:113220983-113220984	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs112924398	chr1:113221051-113221052	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs537478321	chr1:113221076-113221077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs183171133	chr1:113221079-113221080	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs147662995	chr1:113221083-113221084	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs149171845	chr1:113221132-113221133	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs143273512	chr1:113221188-113221189	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs573401949	chr1:113221199-113221200	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs545170994	chr1:113221249-113221250	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs558263006	chr1:113221250-113221251	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs574983663	chr1:113221319-113221320	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs543848175	chr1:113221333-113221334	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs560551539	chr1:113221353-113221354	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs529618130	chr1:113221431-113221432	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs78326096	chr1:113221437-113221438	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs560159089	chr1:113221472-113221473	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs200977497	chr1:113221487-113221488	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs532362861	chr1:113221496-113221497	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs148354175	chr1:113221523-113221524	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs571810662	chr1:113221525-113221526	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs187512100	chr1:113221543-113221544	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs192611319	chr1:113221565-113221566	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs567663328	chr1:113221569-113221570	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs184863083	chr1:113221636-113221637	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs2999155	chr1:113221658-113221659	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs567033227	chr1:113221673-113221674	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113218400-113221000	Enhancers	Spleen	Spleen
2	chr1:113218400-113230200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:113218400-113230400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:113218400-113234200	Weak transcription	Aorta	Aorta
5	chr1:113218600-113220200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr1:113218600-113220200	Enhancers	Thymus	Thymus
7	chr1:113218600-113230200	Weak transcription	Lung	lung
8	chr1:113218600-113232200	Weak transcription	Ovary	ovary
9	chr1:113218600-113235000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:113218600-113235400	Weak transcription	HSMM	muscle
11	chr1:113218600-113240800	Weak transcription	Right Atrium	heart
12	chr1:113218800-113220400	Enhancers	Fetal Intestine Small	intestine
13	chr1:113218800-113220800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:113218800-113220800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:113218800-113221000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:113218800-113221200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:113218800-113221200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:113218800-113221400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:113218800-113222200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:113218800-113222800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:113218800-113229200	Weak transcription	Placenta	Placenta
22	chr1:113218800-113230000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:113218800-113230000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:113218800-113230200	Weak transcription	Left Ventricle	heart
25	chr1:113218800-113230400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:113218800-113230600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:113218800-113232200	Weak transcription	Colonic Mucosa	Colon
28	chr1:113218800-113232400	Weak transcription	Brain Substantia Nigra	brain
29	chr1:113218800-113234200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:113219000-113220400	Enhancers	GM12878-XiMat	blood
31	chr1:113219000-113221400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:113219000-113222000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:113219000-113223400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:113219000-113228600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:113219000-113228800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:113219000-113228800	Weak transcription	Osteobl	bone
37	chr1:113219000-113230200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:113219000-113230600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:113219000-113231400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:113219000-113232000	Weak transcription	Hela-S3	cervix
41	chr1:113219000-113232200	Weak transcription	Small Intestine	intestine
42	chr1:113219000-113232400	Weak transcription	Brain Anterior Caudate	brain
43	chr1:113219000-113234400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:113219000-113235400	Weak transcription	A549	lung
45	chr1:113219000-113242200	Weak transcription	NHDF-Ad	bronchial
46	chr1:113219000-113243800	Weak transcription	Fetal Brain Male	brain
47	chr1:113219200-113220600	Strong transcription	Fetal Lung	lung
48	chr1:113219200-113221200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr1:113219200-113221400	Enhancers	HepG2	liver
50	chr1:113219200-113224000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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