Variant report

Variant	nsv947288
Chromosome Location	chr1:92533478-92545371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:184)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:92535640-92535674	GM20000	blood:	n/a	n/a
2	CTCF	chr1:92540784-92540787	GM10248	blood:	n/a	n/a
3	CTCF	chr1:92541966-92542038	GM13976	blood:	n/a	n/a
4	CTCF	chr1:92540716-92540768	GM10248	blood:	n/a	n/a
5	CTCF	chr1:92536456-92536529	Spleen_OC	spleen:	n/a	n/a
6	EBF1	chr1:92540822-92541027	GM12878	blood:	n/a	n/a
7	FOSL2	chr1:92534761-92535034	HepG2	liver:	n/a	n/a
8	FOXA1	chr1:92534633-92534922	HepG2	liver:	n/a	n/a
9	GATA3	chr1:92536488-92536734	T-47D	breast:	n/a	n/a
10	MAFK	chr1:92541452-92541462	HepG2	liver:	n/a	n/a
11	MAFK	chr1:92534783-92535047	HepG2	liver:	n/a	n/a
12	MAFK	chr1:92537132-92537352	HepG2	liver:	n/a	n/a
13	POLR2A	chr1:92540787-92541013	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:92540902-92540985	A549	lung:	n/a	n/a
15	POLR2A	chr1:92540832-92541025	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:92536881-92537219	K562	blood:	n/a	n/a
17	POLR2A	chr1:92540265-92540416	K562	blood:	n/a	n/a
18	POLR2A	chr1:92545357-92546708	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:92539384-92539559	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:92540821-92541023	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:92540847-92541021	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:92545262-92546270	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr1:92540558-92541099	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:92540708-92541050	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:92540815-92540993	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:92539332-92539589	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:92540565-92541028	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:92540844-92541005	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:92540747-92541066	GM12892	blood:	n/a	n/a
30	STAT3	chr1:92534780-92535028	MCF10A-Er-Src	breast:	n/a	chr1:92534887-92534898
31	TAF1	chr1:92540819-92541025	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr1:92540813-92541039	H1-hESC	embryonic stem cell:	n/a	n/a
33	TAF1	chr1:92540835-92541019	Hela-S3	cervix:	n/a	n/a
34	ZC3H11A	chr1:92542045-92542197	K562	blood:	n/a	n/a
35	ZNF263	chr1:92540054-92540279	HEK293-T-REx	kidney:	n/a	chr1:92540144-92540165 chr1:92540189-92540210 chr1:92540213-92540234

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:92542467-92542517	HAEpiC	amniotic membrane:	n/a
2	chr1:92542467-92542517	HAEpiC	amniotic membrane:	n/a
3	chr1:92542467-92542517	AG04449	skin:	fetal
4	chr1:92542467-92542517	HL-60	blood:	n/a
5	chr1:92545188-92545238	HRPEpiC	eye:	n/a
6	chr1:92545188-92545238	HRE	kidney:	n/a
7	chr1:92545188-92545238	Jurkat	blood:	n/a
8	chr1:92542467-92542517	LNCaP	prostate:	n/a
9	chr1:92545224-92545274	SK-N-MC	brain:	n/a
10	chr1:92545224-92545274	BE2_C	brain:	n/a
11	chr1:92542467-92542517	GM06990	blood:	n/a
12	chr1:92542467-92542517	RPTEC	kidney:	n/a
13	chr1:92542467-92542517	GM12891	blood:	n/a
14	chr1:92545224-92545274	H1-hESC	embryonic stem cell:	embryo
15	chr1:92545224-92545274	AG04449	skin:	fetal
16	chr1:92545224-92545274	SK-N-SH	brain:	n/a
17	chr1:92545224-92545274	ECC-1	luminal epithelium:	n/a
18	chr1:92545224-92545274	LNCaP	prostate:	n/a
19	chr1:92542467-92542517	BE2_C	brain:	n/a
20	chr1:92545188-92545238	HEEpiC	esophagus:	n/a
21	chr1:92545188-92545238	HIPEpiC	eye:	n/a
22	chr1:92545188-92545238	HMEC	breast:	n/a
23	chr1:92545188-92545238	CMK	blood:	n/a
24	chr1:92542467-92542517	Jurkat	blood:	n/a
25	chr1:92542467-92542517	NT2-D1	testis:	n/a
26	chr1:92545224-92545274	HRE	kidney:	n/a
27	chr1:92545224-92545274	GM19239	blood:	n/a
28	chr1:92545224-92545274	Caco-2	colon:	n/a
29	chr1:92545224-92545274	HL-60	blood:	n/a
30	chr1:92542467-92542517	SKMC	muscle:	n/a
31	chr1:92542467-92542517	Hela-S3	cervix:	n/a
32	chr1:92545224-92545274	HAEpiC	amniotic membrane:	n/a
33	chr1:92542467-92542517	H1-hESC	embryonic stem cell:	embryo
34	chr1:92545188-92545238	SAEC	small airway:	n/a
35	chr1:92545188-92545238	BE2_C	brain:	n/a
36	chr1:92545188-92545238	A549	lung:	n/a
37	chr1:92542467-92542517	T-47D	breast:	n/a
38	chr1:92545224-92545274	AG10803	skin:	n/a
39	chr1:92545224-92545274	GM12892	blood:	n/a
40	chr1:92542467-92542517	HCF	heart:	n/a
41	chr1:92542467-92542517	BJ	skin:	n/a
42	chr1:92545224-92545274	SKMC	muscle:	n/a
43	chr1:92545188-92545238	HCPEpiC	choroid plexus:	n/a
44	chr1:92545224-92545274	NH-A	brain:	n/a
45	chr1:92545188-92545238	HepG2	liver:	n/a
46	chr1:92542467-92542517	AG04450	lung:	fetal
47	chr1:92545188-92545238	AG04449	skin:	fetal
48	chr1:92545224-92545274	T-47D	breast:	n/a
49	chr1:92545224-92545274	SAEC	small airway:	n/a
50	chr1:92545224-92545274	RPTEC	kidney:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:92532650..92534894-chr1:92538818..92540475,2	K562	blood:
2	chr1:92542913..92545844-chr1:92825979..92827706,2	K562	blood:
3	chr1:92532650..92534894-chr1:92538818..92540475,2	K562	blood:
4	chr1:92531679..92534472-chr1:92536505..92538325,2	K562	blood:
5	chr1:92494787..92497358-chr1:92544717..92548251,3	MCF-7	breast:
6	chr1:92529291..92531947-chr1:92544374..92546080,2	K562	blood:
7	chr1:92535153..92538093-chr1:92546590..92548474,2	K562	blood:

No data

Variant related genes	Relation type
BTBD8	TF binding region
SETSIP	TF binding region
BTBD8	CpG island
SETSIP	CpG island
ENSG00000233228	chromatin interactions
ENSG00000172031	chromatin interactions

Extended variants
information (count: 343 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192960479	chr1:92533511-92533512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547512017	chr1:92533617-92533618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145669930	chr1:92533679-92533680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542033662	chr1:92533700-92533701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71586732	chr1:92533732-92533733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563320374	chr1:92533846-92533847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530695645	chr1:92533858-92533859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374845334	chr1:92533861-92533862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567010012	chr1:92533870-92533871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550624411	chr1:92533871-92533872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578565	chr1:92533875-92533876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567370156	chr1:92533882-92533883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185223513	chr1:92533923-92533924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113747932	chr1:92533927-92533928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58496098	chr1:92533950-92533951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76594972	chr1:92534005-92534006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189854088	chr1:92534008-92534009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375226481	chr1:92534018-92534019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558242369	chr1:92534020-92534021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576523179	chr1:92534052-92534053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181931927	chr1:92534174-92534175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552527728	chr1:92534179-92534180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574708773	chr1:92534181-92534182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372535857	chr1:92534199-92534200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536398624	chr1:92534245-92534246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575352044	chr1:92534316-92534317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545980778	chr1:92534356-92534357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546585721	chr1:92534409-92534410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532630619	chr1:92534423-92534424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547847938	chr1:92534425-92534426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566798119	chr1:92534426-92534427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559803299	chr1:92534445-92534446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530079988	chr1:92534479-92534480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72954793	chr1:92534489-92534490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538913350	chr1:92534492-92534493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186302096	chr1:92534529-92534530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537289948	chr1:92534537-92534538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369200144	chr1:92534612-92534613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558568925	chr1:92534659-92534660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552347351	chr1:92534669-92534670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572244724	chr1:92534684-92534685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570237879	chr1:92534686-92534687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534395676	chr1:92534689-92534690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35504814	chr1:92534699-92534700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114782790	chr1:92534762-92534763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143070962	chr1:92534810-92534811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372726476	chr1:92534835-92534836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377671678	chr1:92534838-92534839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574369645	chr1:92534926-92534927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535380972	chr1:92535027-92535028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92497800-92534200	Weak transcription	Dnd41	blood
2	chr1:92516800-92536200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:92534600-92535200	Enhancers	A549	lung
4	chr1:92534800-92535200	Enhancers	K562	blood
5	chr1:92536200-92536600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:92536200-92536600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:92540800-92545400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:92542800-92545400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:92545000-92545200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:92545000-92545200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:92545000-92545200	Weak transcription	Dnd41	blood
12	chr1:92545000-92545400	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:92545200-92545400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:92545200-92545400	Enhancers	Primary B cells from cord blood	blood
15	chr1:92545200-92545400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:92545200-92545400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:92545200-92545400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:92545200-92545400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:92545200-92545400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:92545200-92545400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:92545200-92545400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:92545200-92545400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:92545200-92545400	Enhancers	Adipose Nuclei	Adipose
24	chr1:92545200-92545400	Enhancers	Liver	Liver
25	chr1:92545200-92545400	Enhancers	Brain Angular Gyrus	brain
26	chr1:92545200-92545400	Enhancers	Duodenum Mucosa	Duodenum
27	chr1:92545200-92545400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:92545200-92545400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:92545200-92545400	Active TSS	Fetal Heart	heart
30	chr1:92545200-92545400	Enhancers	Fetal Lung	lung
31	chr1:92545200-92545400	Enhancers	Fetal Thymus	thymus
32	chr1:92545200-92545400	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:92545200-92545400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:92545200-92545400	Enhancers	Stomach Mucosa	stomach
35	chr1:92545200-92545400	Enhancers	Dnd41	blood
36	chr1:92545200-92545400	Enhancers	HMEC	breast
37	chr1:92545200-92545400	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:92545200-92545400	Enhancers	NH-A	brain
39	chr1:92545200-92545400	Enhancers	NHLF	lung
40	chr1:92545200-92545600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr1:92545200-92545600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:92545200-92545800	Active TSS	Fetal Brain Female	brain
43	chr1:92545200-92546000	Active TSS	Brain Germinal Matrix	brain
44	chr1:92545200-92546800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:92545200-92546800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:92545200-92546800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:92545200-92546800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:92545200-92546800	Active TSS	Brain Anterior Caudate	brain
49	chr1:92545200-92546800	Active TSS	Brain Hippocampus Middle	brain
50	chr1:92545200-92546800	Active TSS	Colon Smooth Muscle	Colon

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