Variant report

Variant	nsv1002204
Chromosome Location	chr1:119998794-120033837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:120010654-120011034	HepG2	liver:	n/a	n/a
2	BHLHE40	chr1:120018475-120018722	HepG2	liver:	n/a	n/a
3	BHLHE40	chr1:120018542-120018760	K562	blood:	n/a	n/a
4	BHLHE40	chr1:119999982-120000347	GM12878	blood:	n/a	n/a
5	CEBPB	chr1:120010593-120010979	HepG2	liver:	n/a	chr1:120010749-120010760
6	CEBPB	chr1:120010678-120010879	HepG2	liver:	n/a	chr1:120010749-120010760
7	CEBPB	chr1:120010550-120010982	HepG2	liver:	n/a	chr1:120010749-120010760
8	CEBPB	chr1:120018245-120018734	H1-hESC	embryonic stem cell:	n/a	chr1:120018634-120018646
9	CEBPD	chr1:120010641-120010880	HepG2	liver:	n/a	n/a
10	CEBPD	chr1:120010588-120010885	HepG2	liver:	n/a	n/a
11	CTCF	chr1:120018499-120018783	NHEK	skin:	n/a	n/a
12	CTCF	chr1:120018580-120018730	GM12801	blood:	n/a	n/a
13	CTCF	chr1:120018400-120018897	MCF-7	breast:	n/a	chr1:120018408-120018417
14	CTCF	chr1:120018576-120018709	GM13976	blood:	n/a	n/a
15	CTCF	chr1:120020240-120020390	HMEC	breast:	n/a	n/a
16	CTCF	chr1:120018493-120018837	K562	blood:	n/a	n/a
17	CTCF	chr1:120018560-120018710	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr1:120018499-120018775	GM12891	blood:	n/a	n/a
19	CTCF	chr1:120018600-120018750	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:120020448-120020556	GM12878	blood:	n/a	chr1:120020489-120020510 chr1:120020487-120020505 chr1:120020490-120020503
21	CTCF	chr1:120018540-120018690	GM12875	blood:	n/a	n/a
22	CTCF	chr1:120018580-120018730	Caco-2	colon:	n/a	n/a
23	CTCF	chr1:120018540-120018690	HCFaa	heart:	n/a	n/a
24	CTCF	chr1:120020472-120020549	LNCaP	prostate:	n/a	chr1:120020489-120020510 chr1:120020487-120020505 chr1:120020490-120020503
25	CTCF	chr1:120018543-120018747	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr1:120024243-120024348	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr1:120018519-120018729	ProgFib	skin:	n/a	n/a
28	CTCF	chr1:120018520-120018670	HRE	kidney:	n/a	n/a
29	CTCF	chr1:120018600-120018750	HVMF	connective:	n/a	n/a
30	CTCF	chr1:120018580-120018730	AG04449	skin:	n/a	n/a
31	CTCF	chr1:120018900-120019050	HCM	heart:	n/a	n/a
32	CTCF	chr1:120018560-120018710	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr1:120014380-120014530	HEK293	kidney:	n/a	n/a
34	CTCF	chr1:120018520-120018670	GM12864	blood:	n/a	n/a
35	CTCF	chr1:120018700-120018850	A549	lung:	n/a	n/a
36	CTCF	chr1:120018505-120018779	GM19240	blood:	n/a	n/a
37	CTCF	chr1:120018406-120018833	K562	blood:	n/a	chr1:120018408-120018417
38	CTCF	chr1:120018494-120018788	GM19238	blood:	n/a	n/a
39	CTCF	chr1:120018560-120018710	GM12874	blood:	n/a	n/a
40	CTCF	chr1:120018418-120018772	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr1:120018580-120018730	GM12864	blood:	n/a	n/a
42	CTCF	chr1:120018530-120018748	GM10248	blood:	n/a	n/a
43	CTCF	chr1:120018560-120018710	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr1:120020420-120020570	GM12873	blood:	n/a	chr1:120020489-120020510 chr1:120020487-120020505 chr1:120020490-120020503
45	CTCF	chr1:120018528-120018753	GM13977	blood:	n/a	n/a
46	CTCF	chr1:120018220-120018370	GM12875	blood:	n/a	n/a
47	CTCF	chr1:120020461-120020540	MCF-7	breast:	n/a	chr1:120020489-120020510 chr1:120020487-120020505 chr1:120020490-120020503
48	CTCF	chr1:120020455-120020534	MCF-7	breast:	n/a	chr1:120020489-120020510 chr1:120020487-120020505 chr1:120020490-120020503
49	CTCF	chr1:120018400-120018550	GM12866	blood:	n/a	chr1:120018408-120018417
50	CTCF	chr1:120018540-120018690	AG10803	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:120033409..120034120-chr21:39626869..39627676,2	MCF-7	breast:
2	chr1:120018999..120023274-chr1:120024082..120027954,3	K562	blood:
3	chr1:120018156..120019153-chr1:120086160..120087070,2	MCF-7	breast:
4	chr1:120018999..120023274-chr1:120024082..120027954,3	K562	blood:
5	chr1:119992181..119992827-chr1:120018455..120019108,2	MCF-7	breast:
6	chr1:120018192..120019111-chr1:120086522..120087269,6	MCF-7	breast:
7	chr1:120018495..120019084-chr1:120059040..120059941,2	MCF-7	breast:

Variant related genes	Relation type
HSD3BP1	TF binding region
GAPDHP23	TF binding region

Extended variants
information (count: 1293 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1293 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10923828	chr1:119998794-119998795	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114602778	chr1:119998807-119998808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145102549	chr1:119998815-119998816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587657092	chr1:119998821-119998822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137952713	chr1:119998829-119998830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10923829	chr1:119998830-119998831	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs587669338	chr1:119998890-119998891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191218564	chr1:119998899-119998900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374348731	chr1:119998908-119998909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114154169	chr1:119998910-119998911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11804864	chr1:119998916-119998917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79028006	chr1:119998923-119998924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587723836	chr1:119998943-119998944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368098978	chr1:119998961-119998962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75917035	chr1:119998965-119998966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140929876	chr1:119999006-119999007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144641074	chr1:119999045-119999046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12564422	chr1:119999054-119999055	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs587683019	chr1:119999073-119999074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148195528	chr1:119999075-119999076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141124750	chr1:119999097-119999098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587698725	chr1:119999142-119999143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs587761649	chr1:119999149-119999150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587657027	chr1:119999170-119999171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6672903	chr1:119999212-119999213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183473698	chr1:119999358-119999359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150809713	chr1:119999379-119999380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35914507	chr1:119999418-119999419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114342351	chr1:119999428-119999429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370178946	chr1:119999439-119999440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587596214	chr1:119999454-119999455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587665926	chr1:119999481-119999482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587743722	chr1:119999505-119999506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587752006	chr1:119999512-119999513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587625669	chr1:119999513-119999514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186848029	chr1:119999524-119999525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367836338	chr1:119999537-119999538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1341010	chr1:119999631-119999632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61809625	chr1:119999642-119999643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs386635111	chr1:119999667-119999668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79542515	chr1:119999668-119999669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72992943	chr1:119999673-119999674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72992944	chr1:119999727-119999728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190753020	chr1:119999731-119999732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376805264	chr1:119999742-119999743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587658976	chr1:119999818-119999819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138082214	chr1:119999867-119999868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183176274	chr1:119999882-119999883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1361529	chr1:120000021-120000022	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140286536	chr1:120000032-120000033	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
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
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119998200-119999800	Enhancers	Fetal Intestine Large	intestine
2	chr1:119998600-119999000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:119999000-120000400	Enhancers	Fetal Intestine Small	intestine
4	chr1:120003400-120011800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:120005400-120005800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:120005600-120006000	Enhancers	HMEC	breast
7	chr1:120005600-120006000	Enhancers	NHEK	skin
8	chr1:120005800-120009200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:120006000-120007200	Weak transcription	NHEK	skin
10	chr1:120006000-120009400	Weak transcription	HMEC	breast
11	chr1:120007200-120007400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:120007200-120007400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:120007200-120007400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:120007200-120007600	Enhancers	NHEK	skin
15	chr1:120007600-120009400	Weak transcription	NHEK	skin
16	chr1:120008600-120009000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:120008600-120011200	Enhancers	Adipose Nuclei	Adipose
18	chr1:120008600-120011400	Enhancers	Fetal Intestine Small	intestine
19	chr1:120008600-120012200	Enhancers	Liver	Liver
20	chr1:120008600-120012400	Enhancers	Fetal Intestine Large	intestine
21	chr1:120008800-120009200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr1:120008800-120009200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:120008800-120009400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:120008800-120010600	Enhancers	Fetal Lung	lung
25	chr1:120008800-120012200	Enhancers	HepG2	liver
26	chr1:120009200-120010600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:120009400-120010600	Enhancers	HMEC	breast
28	chr1:120009400-120011000	Enhancers	NHEK	skin
29	chr1:120009400-120011200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr1:120009600-120010400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:120009600-120010600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr1:120009600-120010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:120009600-120011000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:120009800-120010200	Enhancers	Placenta	Placenta
35	chr1:120009800-120011200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:120009800-120011200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr1:120010200-120011200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:120010200-120015600	Weak transcription	Placenta	Placenta
39	chr1:120010600-120011200	Enhancers	Pancreas	Pancrea
40	chr1:120010600-120012200	Weak transcription	HMEC	breast
41	chr1:120010600-120012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:120010600-120014600	Weak transcription	Fetal Lung	lung
43	chr1:120010800-120011200	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:120010800-120012000	Enhancers	Fetal Stomach	stomach
45	chr1:120011000-120012000	Weak transcription	NHEK	skin
46	chr1:120011200-120018400	Weak transcription	Pancreas	Pancrea
47	chr1:120011400-120011800	Weak transcription	Fetal Intestine Small	intestine
48	chr1:120011600-120011800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr1:120011800-120012000	Enhancers	Fetal Intestine Small	intestine
50	chr1:120012000-120014200	Weak transcription	Fetal Stomach	stomach

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