Variant report

Variant	nsv546590
Chromosome Location	chr1:77144181-77177189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:183)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr1:77156408-77156900	HCT-116	colon:	n/a	n/a
2	CBX3	chr1:77156384-77156905	HCT-116	colon:	n/a	n/a
3	CCNT2	chr1:77153768-77154264	K562	blood:	n/a	n/a
4	CEBPB	chr1:77164266-77164461	HepG2	liver:	n/a	chr1:77164405-77164416
5	CEBPB	chr1:77167086-77167347	HepG2	liver:	n/a	chr1:77167220-77167231
6	CEBPB	chr1:77167167-77167294	H1-hESC	embryonic stem cell:	n/a	chr1:77167220-77167231
7	CEBPB	chr1:77167065-77167392	IMR90	lung:	n/a	chr1:77167220-77167231
8	CTCF	chr1:77147920-77148070	HepG2	liver:	n/a	n/a
9	CTCF	chr1:77165584-77165663	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr1:77165640-77165790	GM12864	blood:	n/a	n/a
11	CTCF	chr1:77165936-77165949	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:77165875-77165970	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:77148000-77148150	HMEC	breast:	n/a	n/a
14	CTCF	chr1:77165531-77165702	GM19238	blood:	n/a	n/a
15	CTCF	chr1:77165817-77165944	GM12892	blood:	n/a	n/a
16	CTCF	chr1:77165656-77165660	MCF-7	breast:	n/a	n/a
17	CTCF	chr1:77165519-77165698	GM12878	blood:	n/a	n/a
18	CTCF	chr1:77147900-77148050	HEK293	kidney:	n/a	n/a
19	CTCF	chr1:77165553-77165700	Gliobla	brain:	n/a	n/a
20	CTCF	chr1:77165872-77165909	GM19239	blood:	n/a	n/a
21	CTCF	chr1:77162120-77162270	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr1:77165539-77165709	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:77165855-77165948	GM19240	blood:	n/a	n/a
24	CTCF	chr1:77166562-77166638	Fibrobl	skin:	n/a	n/a
25	CTCF	chr1:77165907-77165969	NHEK	skin:	n/a	n/a
26	CTCF	chr1:77154760-77154910	GM12870	blood:	n/a	n/a
27	CTCF	chr1:77165850-77165972	Gliobla	brain:	n/a	n/a
28	CTCF	chr1:77165512-77165679	Fibrobl	skin:	n/a	n/a
29	CTCF	chr1:77147880-77148030	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr1:77165559-77165697	GM19239	blood:	n/a	n/a
31	CTCF	chr1:77165537-77165693	GM12892	blood:	n/a	n/a
32	CTCF	chr1:77165874-77165989	Fibrobl	skin:	n/a	n/a
33	CTCF	chr1:77165592-77165651	NHEK	skin:	n/a	n/a
34	CTCF	chr1:77165531-77165666	K562	blood:	n/a	n/a
35	CTCF	chr1:77147920-77148070	RPTEC	kidney:	n/a	n/a
36	CTCF	chr1:77147984-77148132	LNCaP	prostate:	n/a	n/a
37	CTCF	chr1:77165570-77165703	GM19240	blood:	n/a	n/a
38	CTCF	chr1:77148000-77148150	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr1:77165619-77165707	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:77165603-77165650	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:77165853-77165917	ProgFib	skin:	n/a	n/a
42	CTCF	chr1:77172560-77172710	GM12868	blood:	n/a	n/a
43	CTCF	chr1:77165550-77165669	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:77165539-77165689	MCF-7	breast:	n/a	n/a
45	CTCF	chr1:77148012-77148123	GM12878	blood:	n/a	n/a
46	CTCF	chr1:77165556-77165674	HepG2	liver:	n/a	n/a
47	CTCF	chr1:77165540-77165690	GM12869	blood:	n/a	n/a
48	CTCF	chr1:77147989-77148125	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:77165484-77165708	A549	lung:	n/a	n/a
50	CTCF	chr1:77165885-77165977	GM12891	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:77165604-77165654	AG04449	skin:	fetal
2	chr1:77165565-77165615	CMK	blood:	n/a
3	chr1:77165565-77165615	T-47D	breast:	n/a
4	chr1:77165604-77165654	HCPEpiC	choroid plexus:	n/a
5	chr1:77165461-77165511	AG04449	skin:	fetal
6	chr1:77165565-77165615	GM12892	blood:	n/a
7	chr1:77165461-77165511	HRPEpiC	eye:	n/a
8	chr1:77165461-77165511	GM12892	blood:	n/a
9	chr1:77165461-77165511	HEK293	kidney:	embryo
10	chr1:77165461-77165511	AG09319	gingival:	n/a
11	chr1:77165565-77165615	HL-60	blood:	n/a
12	chr1:77165565-77165615	PrEC	prostate:	n/a
13	chr1:77165604-77165654	U87	brain:	n/a
14	chr1:77165461-77165511	SK-N-SH	brain:	n/a
15	chr1:77165461-77165511	HCM	heart:	n/a
16	chr1:77165565-77165615	MCF-7	breast:	n/a
17	chr1:77165604-77165654	ECC-1	luminal epithelium:	n/a
18	chr1:77165565-77165615	NHDF-neo	bronchial:	n/a
19	chr1:77165604-77165654	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:77165604-77165654	HUVEC	blood vessel:	n/a
21	chr1:77165461-77165511	SK-N-MC	brain:	n/a
22	chr1:77165604-77165654	H1-hESC	embryonic stem cell:	embryo
23	chr1:77165461-77165511	SK-N-SH_RA	brain:	n/a
24	chr1:77165565-77165615	Jurkat	blood:	n/a
25	chr1:77165461-77165511	HCF	heart:	n/a
26	chr1:77165461-77165511	BJ	skin:	n/a
27	chr1:77165461-77165511	BE2_C	brain:	n/a
28	chr1:77165565-77165615	PANC-1	pancreas:	n/a
29	chr1:77165604-77165654	SK-N-SH_RA	brain:	n/a
30	chr1:77165604-77165654	AG10803	skin:	n/a
31	chr1:77165565-77165615	SKMC	muscle:	n/a
32	chr1:77165565-77165615	SK-N-SH_RA	brain:	n/a
33	chr1:77165461-77165511	PFSK-1	brain:	n/a
34	chr1:77165565-77165615	AoSMC	blood vessel:	n/a
35	chr1:77165461-77165511	H1-hESC	embryonic stem cell:	embryo
36	chr1:77165604-77165654	NT2-D1	testis:	n/a
37	chr1:77165461-77165511	NHDF-neo	bronchial:	n/a
38	chr1:77165565-77165615	SK-N-SH	brain:	n/a
39	chr1:77165461-77165511	HMEC	breast:	n/a
40	chr1:77165461-77165511	ECC-1	luminal epithelium:	n/a
41	chr1:77165565-77165615	AG09319	gingival:	n/a
42	chr1:77165565-77165615	HepG2	liver:	n/a
43	chr1:77165461-77165511	Hepatocyte	liver:	n/a
44	chr1:77165461-77165511	HRE	kidney:	n/a
45	chr1:77165461-77165511	HCT-116	colon:	n/a
46	chr1:77165461-77165511	AG04450	lung:	fetal
47	chr1:77165461-77165511	AoSMC	blood vessel:	n/a
48	chr1:77165604-77165654	SK-N-SH	brain:	n/a
49	chr1:77165604-77165654	HEEpiC	esophagus:	n/a
50	chr1:77165461-77165511	SAEC	small airway:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:77160313..77162146-chr1:77164141..77166438,2	K562	blood:
2	chr1:77147990..77150135-chr1:77152468..77154920,2	MCF-7	breast:
3	chr1:77147990..77150135-chr1:77152468..77154920,2	MCF-7	breast:
4	chr1:77152003..77153806-chr1:77226748..77229399,2	MCF-7	breast:
5	chr1:77169289..77170251-chr1:77243231..77243897,2	MCF-7	breast:

No data

Variant related genes	Relation type
TPI1P1	TF binding region
TPI1P1	CpG island
ENSG00000226415	chromatin interactions

Extended variants
information (count: 580 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs614464	chr1:77144181-77144182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538906591	chr1:77144239-77144240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575435445	chr1:77144267-77144268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557136256	chr1:77144273-77144274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575406929	chr1:77144285-77144286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142298742	chr1:77144329-77144330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555025105	chr1:77144332-77144333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191308253	chr1:77144363-77144364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540609438	chr1:77144380-77144381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565089914	chr1:77144386-77144387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577869631	chr1:77144413-77144414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545294177	chr1:77144432-77144433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563491678	chr1:77144448-77144449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185056203	chr1:77144496-77144497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535218292	chr1:77144534-77144535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114598119	chr1:77144543-77144544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542774141	chr1:77144554-77144555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561038902	chr1:77144578-77144579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528115015	chr1:77144628-77144629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546585831	chr1:77144653-77144654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571110540	chr1:77144682-77144683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150155416	chr1:77144733-77144734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116339454	chr1:77144745-77144746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373573327	chr1:77144801-77144802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569135022	chr1:77144822-77144823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376682057	chr1:77144859-77144860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536444189	chr1:77144910-77144911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554806229	chr1:77144924-77144925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557555480	chr1:77145029-77145030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138596071	chr1:77145076-77145077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558928931	chr1:77145081-77145082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370760558	chr1:77145099-77145100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540042178	chr1:77145106-77145107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577273655	chr1:77145127-77145128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148875198	chr1:77145131-77145132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74089718	chr1:77145143-77145144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575559233	chr1:77145153-77145154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573551350	chr1:77145216-77145217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143723427	chr1:77145218-77145219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189388898	chr1:77145249-77145250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371251462	chr1:77145260-77145261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528194384	chr1:77145289-77145290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574942072	chr1:77145316-77145317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376183211	chr1:77145331-77145332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374294175	chr1:77145370-77145371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539923494	chr1:77145380-77145381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138300701	chr1:77145466-77145467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142827821	chr1:77145470-77145471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377765167	chr1:77145472-77145473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535866137	chr1:77145506-77145507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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 cancer	17952125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77140800-77145400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:77140800-77146000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:77142800-77146000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:77145400-77148000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:77145400-77148000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:77145600-77148000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:77146000-77146600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:77146000-77146800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:77147600-77148400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:77152400-77154200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:77152600-77153800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:77152800-77153600	Enhancers	Fetal Kidney	kidney
13	chr1:77153000-77154200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:77153200-77153400	Enhancers	Aorta	Aorta
15	chr1:77153200-77153400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:77153400-77153600	Enhancers	Fetal Lung	lung
17	chr1:77153600-77156800	Weak transcription	Aorta	Aorta
18	chr1:77153800-77158200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:77154800-77155200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:77155600-77156000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:77156000-77157200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:77156000-77157200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:77156600-77157000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:77156800-77157000	Enhancers	Aorta	Aorta
25	chr1:77157000-77158200	Weak transcription	Aorta	Aorta
26	chr1:77157000-77161200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:77157200-77158200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:77158200-77158600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:77158200-77158800	ZNF genes & repeats	Aorta	Aorta
30	chr1:77158200-77159000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:77161200-77161400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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