Variant report

Variant	esv3380482
Chromosome Location	chr7:124593050-124628896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:124598035-124598354	K562	blood:	n/a	n/a
2	CBX3	chr7:124598035-124598565	K562	blood:	n/a	n/a
3	CEBPB	chr7:124606210-124606293	HepG2	liver:	n/a	n/a
4	CTCF	chr7:124603060-124603099	ProgFib	skin:	n/a	n/a
5	CTCF	chr7:124618323-124618387	GM20000	blood:	n/a	n/a
6	CTCF	chr7:124624292-124624335	LNCaP	prostate:	n/a	n/a
7	CUX1	chr7:124607884-124608009	K562	blood:	n/a	n/a
8	E2F4	chr7:124615036-124615057	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr7:124596388-124596675	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr7:124596259-124596457	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr7:124596184-124596507	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr7:124596205-124596448	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr7:124624912-124625225	HepG2	liver:	n/a	n/a
14	FOXA2	chr7:124624859-124625397	A549	lung:	n/a	n/a
15	FOXA2	chr7:124624965-124625335	A549	lung:	n/a	n/a
16	GATA3	chr7:124606307-124606323	SH-SY5Y	brain:	n/a	n/a
17	JUN	chr7:124627071-124627161	K562	blood:	n/a	n/a
18	JUN	chr7:124596205-124596340	K562	blood:	n/a	n/a
19	KAP1	chr7:124598077-124598485	HEK293	kidney:	n/a	n/a
20	MAFK	chr7:124594346-124594374	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAFK	chr7:124609974-124610005	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAFK	chr7:124613626-124613749	IMR90	lung:	n/a	n/a
23	MXI1	chr7:124596331-124596451	K562	blood:	n/a	n/a
24	MYC	chr7:124627543-124627545	H1-hESC	embryonic stem cell:	n/a	n/a
25	NFYA	chr7:124627645-124627798	GM12878	blood:	n/a	n/a
26	NRF1	chr7:124610370-124610460	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr7:124604304-124604372	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr7:124594795-124595081	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr7:124603042-124603107	A549	lung:	n/a	n/a
30	POLR2A	chr7:124594800-124595141	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr7:124624685-124624844	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr7:124593613-124593800	MCF10A-Er-Src	breast:	n/a	n/a
33	RFX5	chr7:124593433-124593434	K562	blood:	n/a	n/a
34	RFX5	chr7:124607214-124607562	K562	blood:	n/a	n/a
35	SPI1	chr7:124613471-124613718	GM12891	blood:	n/a	n/a
36	SPI1	chr7:124613511-124613704	K562	blood:	n/a	n/a
37	SPI1	chr7:124604005-124604292	HL-60	blood:	n/a	n/a
38	SPI1	chr7:124604118-124604316	K562	blood:	n/a	n/a
39	SPI1	chr7:124616412-124616523	GM12878	blood:	n/a	n/a
40	SPI1	chr7:124613377-124613775	HL-60	blood:	n/a	n/a
41	SPI1	chr7:124616396-124616596	K562	blood:	n/a	n/a
42	SPI1	chr7:124616391-124616566	GM12878	blood:	n/a	n/a
43	SPI1	chr7:124616398-124616552	GM12891	blood:	n/a	n/a
44	SPI1	chr7:124616419-124616595	GM12891	blood:	n/a	n/a
45	SPI1	chr7:124616407-124616571	K562	blood:	n/a	n/a
46	STAT1	chr7:124596041-124596684	Hela-S3	cervix:	n/a	chr7:124596348-124596359 chr7:124596328-124596339
47	STAT3	chr7:124595940-124596559	MCF10A-Er-Src	breast:	n/a	chr7:124596348-124596359 chr7:124596327-124596338
48	STAT3	chr7:124596213-124596506	MCF10A-Er-Src	breast:	n/a	chr7:124596348-124596359 chr7:124596327-124596338
49	STAT3	chr7:124596102-124596537	MCF10A-Er-Src	breast:	n/a	chr7:124596348-124596359 chr7:124596327-124596338
50	STAT3	chr7:124596102-124596541	MCF10A-Er-Src	breast:	n/a	chr7:124596348-124596359 chr7:124596327-124596338

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:124625362-124625412	HCT-116	colon:	n/a
2	chr7:124625362-124625412	SK-N-SH	brain:	n/a
3	chr7:124625362-124625412	AG04450	lung:	fetal
4	chr7:124625362-124625412	MCF-7	breast:	n/a
5	chr7:124625362-124625412	CMK	blood:	n/a
6	chr7:124625362-124625412	HRE	kidney:	n/a
7	chr7:124625362-124625412	GM19239	blood:	n/a
8	chr7:124625362-124625412	HepG2	liver:	n/a
9	chr7:124625362-124625412	SKMC	muscle:	n/a
10	chr7:124625362-124625412	HRCEpiC	kidney:	n/a
11	chr7:124625362-124625412	NT2-D1	testis:	n/a
12	chr7:124625362-124625412	HCM	heart:	n/a
13	chr7:124625362-124625412	AG10803	skin:	n/a
14	chr7:124625362-124625412	HMEC	breast:	n/a
15	chr7:124625362-124625412	Hela-S3	cervix:	n/a
16	chr7:124625362-124625412	GM12891	blood:	n/a
17	chr7:124625362-124625412	GM12892	blood:	n/a
18	chr7:124625362-124625412	HEEpiC	esophagus:	n/a
19	chr7:124625362-124625412	NH-A	brain:	n/a
20	chr7:124625362-124625412	BE2_C	brain:	n/a
21	chr7:124625362-124625412	T-47D	breast:	n/a
22	chr7:124625362-124625412	HUVEC	blood vessel:	n/a
23	chr7:124625362-124625412	ProgFib	skin:	n/a
24	chr7:124625362-124625412	A549	lung:	n/a
25	chr7:124625362-124625412	U87	brain:	n/a
26	chr7:124625362-124625412	PANC-1	pancreas:	n/a
27	chr7:124625362-124625412	RPTEC	kidney:	n/a
28	chr7:124625362-124625412	MCF10A-Er-Src	breast:	n/a
29	chr7:124625362-124625412	PrEC	prostate:	n/a
30	chr7:124625362-124625412	Jurkat	blood:	n/a
31	chr7:124625362-124625412	BJ	skin:	n/a
32	chr7:124625362-124625412	SK-N-SH_RA	brain:	n/a
33	chr7:124625362-124625412	Caco-2	colon:	n/a
34	chr7:124625362-124625412	AG04449	skin:	fetal
35	chr7:124625362-124625412	GM12878	blood:	n/a
36	chr7:124625362-124625412	HL-60	blood:	n/a
37	chr7:124625362-124625412	H1-hESC	embryonic stem cell:	embryo
38	chr7:124625362-124625412	ovcar-3	ovarian:	n/a
39	chr7:124625362-124625412	HIPEpiC	eye:	n/a
40	chr7:124625362-124625412	PFSK-1	brain:	n/a
41	chr7:124625362-124625412	HNPCEpiC	eye:	n/a
42	chr7:124625362-124625412	AG09319	gingival:	n/a
43	chr7:124625362-124625412	IMR90	lung:	fetal
44	chr7:124625362-124625412	AoSMC	blood vessel:	n/a
45	chr7:124625362-124625412	HEK293	kidney:	embryo
46	chr7:124625362-124625412	HAEpiC	amniotic membrane:	n/a
47	chr7:124625362-124625412	SK-N-MC	brain:	n/a
48	chr7:124625362-124625412	NHDF-neo	bronchial:	n/a
49	chr7:124625362-124625412	HRPEpiC	eye:	n/a
50	chr7:124625362-124625412	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:124584280..124585909-chr7:124591798..124594072,2	K562	blood:
2	chr7:124625632..124627676-chr7:124628734..124631039,2	MCF-7	breast:
3	chr7:124625632..124627676-chr7:124628734..124631039,2	MCF-7	breast:
4	chr7:124610367..124612617-chr7:124646921..124649703,2	K562	blood:
5	chr7:124606875..124608614-chr7:124609059..124611420,2	MCF-7	breast:
6	chr7:124611698..124614462-chr7:124706318..124708451,2	K562	blood:
7	chr7:124606875..124608614-chr7:124609059..124611420,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-7	chr7:124627790-124627842	NONHSAT123095

No data

Variant related genes	Relation type
POT1-AS1	TF binding region
POT1-AS1	CpG island

Extended variants
information (count: 373 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:373 , 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	rs560567479	chr7:124593067-124593068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533877838	chr7:124593113-124593114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180769634	chr7:124593130-124593131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547475447	chr7:124593215-124593216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552591975	chr7:124593273-124593274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141082346	chr7:124593336-124593337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531749818	chr7:124593353-124593354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548147786	chr7:124593437-124593438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568351564	chr7:124593490-124593491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377490222	chr7:124593514-124593515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370664406	chr7:124593729-124593730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200440761	chr7:124593764-124593765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533690619	chr7:124593768-124593769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75263271	chr7:124593774-124593775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531792932	chr7:124593775-124593776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10227119	chr7:124593780-124593781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs539392108	chr7:124593808-124593809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575596297	chr7:124593814-124593815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555863569	chr7:124593820-124593821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576707170	chr7:124593825-124593826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60625314	chr7:124593899-124593900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555717532	chr7:124593911-124593912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115974663	chr7:124593928-124593929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535442429	chr7:124593978-124593979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146932391	chr7:124593987-124593988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368125801	chr7:124594113-124594114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138180549	chr7:124594160-124594161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540822518	chr7:124594192-124594193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560703127	chr7:124594228-124594229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577392852	chr7:124594323-124594324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573217009	chr7:124594325-124594326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546294567	chr7:124594335-124594336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114471460	chr7:124594349-124594350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143746018	chr7:124594356-124594357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548565447	chr7:124594440-124594441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561830098	chr7:124594448-124594449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527620569	chr7:124594464-124594465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547171814	chr7:124594490-124594491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570339998	chr7:124594503-124594504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555586387	chr7:124594647-124594648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532981646	chr7:124594668-124594669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549571662	chr7:124594705-124594706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572255758	chr7:124594849-124594850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184979756	chr7:124594871-124594872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74359220	chr7:124594949-124594950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541134760	chr7:124594970-124594971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371315592	chr7:124594978-124594979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2170353	chr7:124595169-124595170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs568645889	chr7:124595191-124595192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534528399	chr7:124595205-124595206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124591600-124594800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:124592600-124597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:124594800-124595200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:124596000-124596800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:124596200-124596600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:124596400-124596800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:124597600-124600400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:124598400-124599400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:124599400-124600400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:124599400-124601000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:124599800-124600200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:124600000-124600600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:124600000-124600600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:124600400-124602400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:124601000-124601200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:124602400-124602600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:124604800-124605400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:124612400-124612800	Enhancers	Cortex derived primary cultured neurospheres	brain

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