Variant report

Variant	nsv871382
Chromosome Location	chr1:81010233-81087175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:81022589-81022754	K562	blood:	n/a	n/a
2	CEBPB	chr1:81059670-81060151	MCF-7	breast:	n/a	n/a
3	CEBPB	chr1:81059645-81060123	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr1:81059738-81060035	MCF-7	breast:	n/a	n/a
5	CEBPB	chr1:81059740-81060029	ECC-1	luminal epithelium:	n/a	n/a
6	CHD2	chr1:81072435-81072437	GM12878	blood:	n/a	n/a
7	CTCF	chr1:81049281-81049353	Fibrobl	skin:	n/a	n/a
8	CTCF	chr1:81058180-81058330	AG09309	skin:	n/a	n/a
9	CTCF	chr1:81072903-81073048	GM12878	blood:	n/a	n/a
10	CTCF	chr1:81072805-81073154	GM12878	blood:	n/a	n/a
11	CTCF	chr1:81079758-81079821	Lung_OC	lung:	n/a	n/a
12	CTCF	chr1:81072920-81073070	GM12878	blood:	n/a	n/a
13	CTCF	chr1:81072740-81072890	GM12867	blood:	n/a	n/a
14	CTCF	chr1:81072933-81073018	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:81072928-81073014	GM19240	blood:	n/a	n/a
16	CTCF	chr1:81072880-81073030	GM12873	blood:	n/a	n/a
17	CTCF	chr1:81072897-81073015	GM19239	blood:	n/a	n/a
18	CTCF	chr1:81072957-81072970	MCF-7	breast:	n/a	n/a
19	CTCF	chr1:81072820-81072970	GM12872	blood:	n/a	n/a
20	CTCF	chr1:81059391-81059433	LNCaP	prostate:	n/a	n/a
21	CTCF	chr1:81072896-81073019	GM13977	blood:	n/a	n/a
22	CTCF	chr1:81020220-81020370	AG09319	gingival:	n/a	n/a
23	CTCF	chr1:81072880-81073030	GM12871	blood:	n/a	n/a
24	CTCF	chr1:81072890-81073050	GM19238	blood:	n/a	n/a
25	CTCF	chr1:81072880-81073030	GM12865	blood:	n/a	n/a
26	CTCF	chr1:81072919-81073011	GM12891	blood:	n/a	n/a
27	CTCF	chr1:81072860-81073010	GM12872	blood:	n/a	n/a
28	CTCF	chr1:81072938-81073022	GM10266	blood:	n/a	n/a
29	CTCF	chr1:81072943-81072984	MCF-7	breast:	n/a	n/a
30	E2F4	chr1:81051688-81051984	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr1:81021556-81021890	MCF10A-Er-Src	breast:	n/a	n/a
32	EBF1	chr1:81025827-81026001	GM12878	blood:	n/a	chr1:81025887-81025898 chr1:81025867-81025878
33	EP300	chr1:81059702-81060113	T-47D	breast:	n/a	n/a
34	EP300	chr1:81080179-81080197	GM12878	blood:	n/a	n/a
35	EP300	chr1:81059533-81060129	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr1:81085864-81085880	GM12878	blood:	n/a	n/a
37	EP300	chr1:81059587-81060163	ECC-1	luminal epithelium:	n/a	n/a
38	EP300	chr1:81059600-81060142	MCF-7	breast:	n/a	n/a
39	EP300	chr1:81059696-81060016	T-47D	breast:	n/a	n/a
40	FAM48A	chr1:81015128-81015211	GM12878	blood:	n/a	n/a
41	FAM48A	chr1:81069989-81070138	GM12878	blood:	n/a	n/a
42	FAM48A	chr1:81024665-81024835	GM12878	blood:	n/a	n/a
43	FOXA1	chr1:81059682-81060028	T-47D	breast:	n/a	n/a
44	FOXA1	chr1:81070270-81070688	T-47D	breast:	n/a	n/a
45	FOXA1	chr1:81059735-81060042	T-47D	breast:	n/a	n/a
46	FOXM1	chr1:81059556-81060242	ECC-1	luminal epithelium:	n/a	n/a
47	GATA3	chr1:81070267-81070668	T-47D	breast:	n/a	n/a
48	GATA3	chr1:81059599-81060139	MCF-7	breast:	n/a	n/a
49	GATA3	chr1:81059531-81060260	MCF-7	breast:	n/a	n/a
50	GATA3	chr1:81026302-81026484	SH-SY5Y	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:81070565..81072592-chr1:81090453..81092983,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELTD1-8	chr1:81049975-81050048	XLOC_000883

No data

Variant related genes	Relation type
ENSG00000224326	TF binding region

Extended variants
information (count: 791 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12033755	chr1:81010233-81010234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539286162	chr1:81010282-81010283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559186164	chr1:81010285-81010286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569599821	chr1:81010292-81010293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538511117	chr1:81010299-81010300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74099271	chr1:81010346-81010347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs368645239	chr1:81010362-81010363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542359883	chr1:81010386-81010387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553077511	chr1:81010421-81010422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370793577	chr1:81010436-81010437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530444282	chr1:81010443-81010444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572591035	chr1:81010464-81010465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544835259	chr1:81010473-81010474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200160215	chr1:81010499-81010500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12751033	chr1:81010500-81010501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12078768	chr1:81010531-81010532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12075219	chr1:81010533-81010534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570378759	chr1:81010545-81010546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575186944	chr1:81010593-81010594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544462499	chr1:81010610-81010611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561136757	chr1:81010636-81010637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12078807	chr1:81010641-81010642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57937568	chr1:81010662-81010663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183950987	chr1:81010672-81010673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560609097	chr1:81010714-81010715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532636614	chr1:81010722-81010723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187896692	chr1:81010782-81010783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373935040	chr1:81010792-81010793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150584801	chr1:81010803-81010804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12076360	chr1:81010829-81010830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139824559	chr1:81010892-81010893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72678206	chr1:81010895-81010896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552675973	chr1:81010896-81010897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572633932	chr1:81010898-81010899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192410224	chr1:81010911-81010912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74099272	chr1:81010927-81010928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183794805	chr1:81010944-81010945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4650472	chr1:81011003-81011004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544183719	chr1:81011011-81011012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377210750	chr1:81011081-81011082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186492351	chr1:81011112-81011113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555163888	chr1:81011147-81011148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs436547	chr1:81011188-81011189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192712954	chr1:81011206-81011207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560483381	chr1:81011209-81011210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532668445	chr1:81011279-81011280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184772379	chr1:81011283-81011284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190047002	chr1:81011339-81011340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531978335	chr1:81011358-81011359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548484290	chr1:81011367-81011368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Melanoma	17363583	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
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	17550852	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:81005600-81017800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:81008800-81012000	Weak transcription	Fetal Heart	heart
3	chr1:81012000-81012600	Enhancers	Fetal Heart	heart
4	chr1:81014200-81014600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:81014400-81014600	Enhancers	Fetal Heart	heart
6	chr1:81014600-81014800	Enhancers	Liver	Liver
7	chr1:81022200-81022600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:81025000-81027800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:81027000-81027400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:81031200-81031400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:81031200-81031600	Enhancers	Fetal Kidney	kidney
12	chr1:81031200-81032400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:81031200-81032800	Enhancers	Fetal Intestine Large	intestine
14	chr1:81031400-81032000	Enhancers	Fetal Intestine Small	intestine
15	chr1:81031400-81032400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:81031800-81032200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:81031800-81032200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:81036400-81037000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:81046800-81048000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:81059000-81060400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:81059000-81060400	Enhancers	Placenta	Placenta
22	chr1:81059400-81059800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:81059400-81060200	Enhancers	Esophagus	oesophagus
24	chr1:81068400-81070000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:81069200-81071200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:81069800-81071200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:81069800-81071400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:81070000-81070600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:81070000-81071200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:81070000-81071600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:81070200-81071000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:81070200-81071000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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