Variant report

Variant	nsv947282
Chromosome Location	chr1:84338235-84350669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr1:84348697-84348893	K562	blood:	n/a	n/a
2	CBX3	chr1:84348610-84348875	K562	blood:	n/a	n/a
3	CTCF	chr1:84348701-84348807	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr1:84348580-84348730	GM12872	blood:	n/a	n/a
5	CTCF	chr1:84348487-84348874	HCT-116	colon:	n/a	n/a
6	CTCF	chr1:84348628-84348881	IMR90	lung:	n/a	n/a
7	CTCF	chr1:84348573-84348899	K562	blood:	n/a	n/a
8	CTCF	chr1:84348680-84348830	GM12865	blood:	n/a	n/a
9	CTCF	chr1:84348680-84348830	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chr1:84348660-84348810	HCM	heart:	n/a	n/a
11	CTCF	chr1:84348700-84348850	AG04450	lung:	n/a	n/a
12	CTCF	chr1:84348640-84348790	HPF	lung:	n/a	n/a
13	CTCF	chr1:84348651-84348756	Gliobla	brain:	n/a	n/a
14	CTCF	chr1:84348660-84348810	SAEC	small airway:	n/a	n/a
15	CTCF	chr1:84348600-84348750	GM12870	blood:	n/a	n/a
16	CTCF	chr1:84348600-84348750	SAEC	small airway:	n/a	n/a
17	CTCF	chr1:84348600-84348750	GM12864	blood:	n/a	n/a
18	CTCF	chr1:84348640-84348790	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr1:84348540-84348790	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr1:84348540-84348690	A549	lung:	n/a	n/a
21	CTCF	chr1:84348620-84348770	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr1:84348580-84348730	A549	lung:	n/a	n/a
23	CTCF	chr1:84348660-84348810	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr1:84348740-84348890	GM12878	blood:	n/a	n/a
25	CTCF	chr1:84348580-84348730	RPTEC	kidney:	n/a	n/a
26	CTCF	chr1:84348640-84348790	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr1:84348580-84348730	HVMF	connective:	n/a	n/a
28	CTCF	chr1:84348600-84348750	GM12871	blood:	n/a	n/a
29	CTCF	chr1:84348580-84348730	HRE	kidney:	n/a	n/a
30	CTCF	chr1:84348633-84348773	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr1:84348677-84348781	GM12892	blood:	n/a	n/a
32	CTCF	chr1:84348600-84348750	NHEK	skin:	n/a	n/a
33	CTCF	chr1:84348500-84348650	NHLF	lung:	n/a	n/a
34	CTCF	chr1:84348717-84348730	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr1:84348720-84348870	A549	lung:	n/a	n/a
36	CTCF	chr1:84348668-84348757	GM10248	blood:	n/a	n/a
37	CTCF	chr1:84348699-84348767	A549	lung:	n/a	n/a
38	CTCF	chr1:84348640-84348790	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr1:84348680-84348830	HMF	breast:	n/a	n/a
40	CTCF	chr1:84348620-84348770	AG10803	skin:	n/a	n/a
41	CTCF	chr1:84348680-84348830	AG10803	skin:	n/a	n/a
42	CTCF	chr1:84348640-84348790	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr1:84348600-84348842	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:84348680-84348830	AG04449	skin:	n/a	n/a
45	CTCF	chr1:84348640-84348790	HMEC	breast:	n/a	n/a
46	CTCF	chr1:84348560-84348710	GM12865	blood:	n/a	n/a
47	CTCF	chr1:84348680-84348830	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr1:84348662-84348783	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:84348660-84348810	GM12872	blood:	n/a	n/a
50	CTCF	chr1:84348640-84348790	GM12874	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:84337286..84340081-chr1:84343228..84345077,2	K562	blood:
2	chr1:84337286..84340081-chr1:84343228..84345077,2	K562	blood:
3	chr1:84345267..84347159-chr1:84348251..84350986,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNG5-7	chr1:84348352-84348531	NONHSAT004176
2	lnc-GNG5-7	chr1:84345576-84345666	NONHSAT004176

No data

Variant related genes	Relation type
TTLL7	TF binding region
ENSG00000137941	chromatin interactions

Extended variants
information (count: 381 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192426182	chr1:84338272-84338273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79687150	chr1:84338454-84338455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559393133	chr1:84338470-84338471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528133918	chr1:84338485-84338486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551394191	chr1:84338572-84338573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79863772	chr1:84338598-84338599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571347200	chr1:84338646-84338647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12123323	chr1:84338649-84338650	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138230018	chr1:84338689-84338690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567323144	chr1:84338719-84338720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183372041	chr1:84338756-84338757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536146490	chr1:84338767-84338768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552810074	chr1:84338829-84338830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187407636	chr1:84338885-84338886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369018634	chr1:84338888-84338889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111819565	chr1:84338905-84338906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149553007	chr1:84338921-84338922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578072104	chr1:84338927-84338928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557419628	chr1:84338983-84338984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79330363	chr1:84338999-84339000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs680627	chr1:84339090-84339091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574103020	chr1:84339098-84339099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144237069	chr1:84339129-84339130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139410607	chr1:84339140-84339141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372141046	chr1:84339156-84339157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71652655	chr1:84339173-84339174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199646899	chr1:84339227-84339228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545058016	chr1:84339355-84339356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564693878	chr1:84339356-84339357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530653220	chr1:84339358-84339359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116103329	chr1:84339364-84339365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567466363	chr1:84339459-84339460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144171714	chr1:84339460-84339461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546383975	chr1:84339472-84339473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566455819	chr1:84339474-84339475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538528396	chr1:84339483-84339484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78181181	chr1:84339493-84339494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1475263	chr1:84339497-84339498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571521813	chr1:84339520-84339521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192239758	chr1:84339593-84339594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564276958	chr1:84339598-84339599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577583212	chr1:84339675-84339676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200969527	chr1:84339690-84339691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116018356	chr1:84339770-84339771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7537766	chr1:84339772-84339773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79045947	chr1:84339847-84339848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531543439	chr1:84339869-84339870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75540208	chr1:84339872-84339873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561916963	chr1:84339894-84339895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76436292	chr1:84339898-84339899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84326800-84348200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:84326800-84352600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:84327000-84345000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:84327000-84348400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:84327000-84352400	Weak transcription	Aorta	Aorta
6	chr1:84327000-84361800	Weak transcription	Fetal Brain Female	brain
7	chr1:84327000-84375400	Weak transcription	Brain Germinal Matrix	brain
8	chr1:84327200-84348600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:84327200-84349600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:84327200-84351400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:84327400-84345000	Weak transcription	Brain Anterior Caudate	brain
12	chr1:84328200-84354400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:84328800-84344800	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:84329000-84352200	Weak transcription	Brain Angular Gyrus	brain
15	chr1:84329000-84373000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:84331000-84352400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:84331400-84348000	Weak transcription	HSMM	muscle
18	chr1:84333400-84382400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:84334600-84355400	Weak transcription	HSMMtube	muscle
20	chr1:84334800-84342600	Weak transcription	NHLF	lung
21	chr1:84335800-84352400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:84336400-84349600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:84338200-84338600	Enhancers	Liver	Liver
24	chr1:84338600-84338800	Enhancers	Pancreas	Pancrea
25	chr1:84338600-84348200	Weak transcription	Liver	Liver
26	chr1:84338800-84367600	Weak transcription	Pancreas	Pancrea
27	chr1:84340200-84341000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:84341000-84341200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:84341000-84359400	Weak transcription	Psoas Muscle	Psoas
30	chr1:84341200-84380400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:84343600-84361800	Weak transcription	Fetal Brain Male	brain
32	chr1:84343800-84348400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:84344800-84345800	Strong transcription	Brain Hippocampus Middle	brain
34	chr1:84345000-84345600	Strong transcription	Brain Anterior Caudate	brain
35	chr1:84345000-84345600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:84345600-84348200	Weak transcription	Brain Anterior Caudate	brain
37	chr1:84345600-84384400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:84345800-84353800	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:84346800-84382400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:84348000-84348600	Strong transcription	HSMM	muscle
41	chr1:84348200-84348400	Enhancers	Liver	Liver
42	chr1:84348200-84349800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:84348200-84349800	Strong transcription	Brain Anterior Caudate	brain
44	chr1:84348400-84348600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:84348400-84348600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:84348400-84349000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:84348400-84349200	Enhancers	Osteobl	bone
48	chr1:84348400-84349800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:84348400-84349800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:84348400-84350000	Enhancers	NHDF-Ad	bronchial

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