Variant report

Variant	esv999353
Chromosome Location	chr1:104689437-104699435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:104690079-104690113	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr1:104690029-104690139	K562	blood:	n/a	n/a
3	CTCF	chr1:104690042-104690121	MCF-7	breast:	n/a	n/a
4	CTCF	chr1:104690055-104690096	GM12878	blood:	n/a	n/a
5	FOS	chr1:104691832-104692080	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:104691906-104692057	MCF10A-Er-Src	breast:	n/a	n/a
7	HEY1	chr1:104696309-104696683	HepG2	liver:	n/a	n/a
8	HEY1	chr1:104696354-104696677	K562	blood:	n/a	n/a
9	HEY1	chr1:104696355-104696618	K562	blood:	n/a	n/a
10	HEY1	chr1:104696385-104696558	HepG2	liver:	n/a	n/a
11	IRF3	chr1:104697487-104697522	GM12878	blood:	n/a	n/a
12	MYC	chr1:104690184-104690266	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:104696411-104696489	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:104696438-104696474	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:104696396-104696497	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:104696373-104696519	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:104696436-104696722	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:104696399-104696532	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:104696380-104696513	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:104696391-104696572	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:104696381-104696597	A549	lung:	n/a	n/a
22	POLR2A	chr1:104691230-104691496	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr1:104696365-104696597	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:104696346-104696593	GM12891	blood:	n/a	n/a
25	POLR2A	chr1:104696390-104696506	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:104696354-104696593	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:104696246-104696485	K562	blood:	n/a	n/a
28	POLR2A	chr1:104696406-104696493	A549	lung:	n/a	n/a
29	POLR2A	chr1:104696385-104696593	GM12891	blood:	n/a	n/a
30	POLR2A	chr1:104696353-104696475	A549	lung:	n/a	n/a
31	POLR2A	chr1:104696404-104696486	A549	lung:	n/a	n/a
32	POLR2A	chr1:104699246-104699926	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr1:104696411-104696481	A549	lung:	n/a	n/a
34	POLR2A	chr1:104696341-104696701	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:104696365-104696577	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:104699278-104699987	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr1:104696342-104696351	A549	lung:	n/a	n/a
38	STAT3	chr1:104690525-104690702	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF7L2	chr1:104697004-104697364	PANC-1	pancreas:	n/a	chr1:104697203-104697210 chr1:104697202-104697211
40	ZNF143	chr1:104690666-104690966	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:104696931-104696981	HUVEC	blood vessel:	n/a
2	chr1:104696931-104696981	BJ	skin:	n/a
3	chr1:104696931-104696981	GM19239	blood:	n/a
4	chr1:104696931-104696981	AoSMC	blood vessel:	n/a
5	chr1:104696931-104696981	LNCaP	prostate:	n/a
6	chr1:104696931-104696981	HCM	heart:	n/a
7	chr1:104696931-104696981	PFSK-1	brain:	n/a
8	chr1:104696931-104696981	K562	blood:	n/a
9	chr1:104696931-104696981	Caco-2	colon:	n/a
10	chr1:104696931-104696981	HAEpiC	amniotic membrane:	n/a
11	chr1:104696931-104696981	PANC-1	pancreas:	n/a
12	chr1:104696931-104696981	Hepatocyte	liver:	n/a
13	chr1:104696931-104696981	HPAEpiC	pulmonary alveolar:	n/a
14	chr1:104696931-104696981	SK-N-SH	brain:	n/a
15	chr1:104696931-104696981	GM06990	blood:	n/a
16	chr1:104696931-104696981	Hela-S3	cervix:	n/a
17	chr1:104696931-104696981	SKMC	muscle:	n/a
18	chr1:104696931-104696981	A549	lung:	n/a
19	chr1:104696931-104696981	HCF	heart:	n/a
20	chr1:104696931-104696981	GM12891	blood:	n/a
21	chr1:104696931-104696981	H1-hESC	embryonic stem cell:	embryo
22	chr1:104696931-104696981	GM12892	blood:	n/a
23	chr1:104696931-104696981	HEK293	kidney:	embryo
24	chr1:104696931-104696981	HepG2	liver:	n/a
25	chr1:104696931-104696981	CMK	blood:	n/a
26	chr1:104696931-104696981	SAEC	small airway:	n/a
27	chr1:104696931-104696981	PrEC	prostate:	n/a
28	chr1:104696931-104696981	MCF10A-Er-Src	breast:	n/a
29	chr1:104696931-104696981	MCF-7	breast:	n/a
30	chr1:104696931-104696981	AG09309	skin:	n/a
31	chr1:104696931-104696981	AG09319	gingival:	n/a
32	chr1:104696931-104696981	SK-N-MC	brain:	n/a
33	chr1:104696931-104696981	HL-60	blood:	n/a
34	chr1:104696931-104696981	HNPCEpiC	eye:	n/a
35	chr1:104696931-104696981	AG10803	skin:	n/a
36	chr1:104696931-104696981	HEEpiC	esophagus:	n/a
37	chr1:104696931-104696981	AG04449	skin:	fetal
38	chr1:104696931-104696981	HRPEpiC	eye:	n/a
39	chr1:104696931-104696981	NT2-D1	testis:	n/a
40	chr1:104696931-104696981	Jurkat	blood:	n/a
41	chr1:104696931-104696981	HCT-116	colon:	n/a
42	chr1:104696931-104696981	ovcar-3	ovarian:	n/a
43	chr1:104696931-104696981	NB4	blood:	n/a
44	chr1:104696931-104696981	HRE	kidney:	n/a
45	chr1:104696931-104696981	U87	brain:	n/a
46	chr1:104696931-104696981	HCPEpiC	choroid plexus:	n/a
47	chr1:104696931-104696981	AG04450	lung:	fetal
48	chr1:104696931-104696981	RPTEC	kidney:	n/a
49	chr1:104696931-104696981	BE2_C	brain:	n/a
50	chr1:104696931-104696981	IMR90	lung:	fetal

No data

Variant related genes	Relation type
FTLP17	TF binding region
FTLP17	CpG island

Extended variants
information (count: 151 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536855680	chr1:104691003-104691004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111355423	chr1:104691021-104691022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573370864	chr1:104691041-104691042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147761360	chr1:104691055-104691056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79333102	chr1:104691147-104691148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113064116	chr1:104691203-104691204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372956738	chr1:104691204-104691205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376132043	chr1:104691210-104691211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141273178	chr1:104691217-104691218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146957219	chr1:104691218-104691219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113352400	chr1:104691235-104691236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12060680	chr1:104691288-104691289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139276105	chr1:104691294-104691295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12062742	chr1:104691301-104691302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187889156	chr1:104691309-104691310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546762240	chr1:104691314-104691315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564198760	chr1:104691387-104691388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114926032	chr1:104691429-104691430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571354520	chr1:104691433-104691434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79267118	chr1:104691435-104691436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149407415	chr1:104691457-104691458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190789442	chr1:104691462-104691463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550547611	chr1:104691463-104691464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569591948	chr1:104691483-104691484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368430725	chr1:104691485-104691486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555221994	chr1:104691487-104691488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183340544	chr1:104691495-104691496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187857201	chr1:104691609-104691610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192074506	chr1:104691631-104691632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143747265	chr1:104691667-104691668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371833505	chr1:104691668-104691669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148167273	chr1:104691679-104691680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376373715	chr1:104691726-104691727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574763558	chr1:104691731-104691732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71072502	chr1:104691733-104691734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542581733	chr1:104691740-104691741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561231153	chr1:104691759-104691760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572992102	chr1:104691767-104691768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540387922	chr1:104691770-104691771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369379352	chr1:104691885-104691886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372058334	chr1:104691943-104691944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374781794	chr1:104691946-104691947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532217545	chr1:104691964-104691965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141976416	chr1:104691966-104691967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529157002	chr1:104692021-104692022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550723128	chr1:104692041-104692042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562373109	chr1:104692048-104692049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72989571	chr1:104692117-104692118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548643175	chr1:104692123-104692124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146073744	chr1:104692198-104692199	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104691000-104693600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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