Variant report

Variant	esv275106
Chromosome Location	chr7:108173123-108179506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:108175947-108176607	K562	blood:	n/a	n/a
2	ATF1	chr7:108176346-108176536	K562	blood:	n/a	n/a
3	ATF1	chr7:108178722-108179026	K562	blood:	n/a	n/a
4	ATF3	chr7:108178646-108179018	K562	blood:	n/a	n/a
5	BHLHE40	chr7:108178720-108179332	K562	blood:	n/a	n/a
6	CBX3	chr7:108175580-108176242	K562	blood:	n/a	n/a
7	CBX3	chr7:108178646-108179068	K562	blood:	n/a	n/a
8	CBX3	chr7:108178613-108179762	K562	blood:	n/a	n/a
9	CCNT2	chr7:108178703-108179010	K562	blood:	n/a	n/a
10	CCNT2	chr7:108175880-108176400	K562	blood:	n/a	n/a
11	CEBPB	chr7:108178715-108178938	K562	blood:	n/a	n/a
12	CEBPB	chr7:108178642-108179077	K562	blood:	n/a	n/a
13	CEBPD	chr7:108178586-108179196	K562	blood:	n/a	n/a
14	CEBPD	chr7:108178632-108179149	K562	blood:	n/a	n/a
15	CHD2	chr7:108173427-108173430	K562	blood:	n/a	n/a
16	CTCF	chr7:108179300-108179450	K562	blood:	n/a	n/a
17	CTCF	chr7:108179489-108179620	MCF-7	breast:	n/a	n/a
18	CUX1	chr7:108178365-108179109	K562	blood:	n/a	n/a
19	CUX1	chr7:108173235-108173242	K562	blood:	n/a	n/a
20	E2F4	chr7:108177363-108177486	MCF10A-Er-Src	breast:	n/a	n/a
21	EBF1	chr7:108178884-108178964	GM12878	blood:	n/a	n/a
22	ELF1	chr7:108178699-108179058	K562	blood:	n/a	n/a
23	ELF1	chr7:108175764-108176023	K562	blood:	n/a	chr7:108175890-108175903
24	EP300	chr7:108178730-108178943	K562	blood:	n/a	n/a
25	EP300	chr7:108178687-108179112	K562	blood:	n/a	n/a
26	EP300	chr7:108175839-108176529	K562	blood:	n/a	n/a
27	ETS1	chr7:108178719-108178986	K562	blood:	n/a	n/a
28	FOXA1	chr7:108173514-108173911	HepG2	liver:	n/a	n/a
29	GABPA	chr7:108178653-108179080	K562	blood:	n/a	n/a
30	GATA1	chr7:108178704-108179499	K562	blood:	n/a	n/a
31	GATA1	chr7:108175426-108179632	K562	blood:	n/a	chr7:108176357-108176368
32	GATA1	chr7:108178289-108179383	PBDE	blood:	n/a	n/a
33	GATA2	chr7:108178613-108179299	K562	blood:	n/a	n/a
34	GATA2	chr7:108178699-108179333	K562	blood:	n/a	n/a
35	GATA2	chr7:108178671-108179069	K562	blood:	n/a	n/a
36	HCFC1	chr7:108178738-108179096	K562	blood:	n/a	n/a
37	HDAC2	chr7:108178715-108179044	K562	blood:	n/a	n/a
38	HDAC2	chr7:108178670-108179112	K562	blood:	n/a	n/a
39	IRF1	chr7:108176590-108177094	K562	blood:	n/a	n/a
40	IRF1	chr7:108175844-108176551	K562	blood:	n/a	n/a
41	IRF1	chr7:108174822-108175032	K562	blood:	n/a	n/a
42	JUN	chr7:108173026-108173210	K562	blood:	n/a	chr7:108173028-108173040
43	JUND	chr7:108177342-108178202	K562	blood:	n/a	n/a
44	JUND	chr7:108175839-108176510	K562	blood:	n/a	n/a
45	JUND	chr7:108178676-108179280	K562	blood:	n/a	n/a
46	KAP1	chr7:108175814-108176703	K562	blood:	n/a	n/a
47	MAFF	chr7:108178867-108178920	K562	blood:	n/a	n/a
48	MAFK	chr7:108178789-108178989	K562	blood:	n/a	n/a
49	MAFK	chr7:108176798-108176969	K562	blood:	n/a	n/a
50	MAX	chr7:108175837-108176108	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:108163188..108164833-chr7:108174026..108175540,2	K562	blood:
2	chr7:108163986..108165918-chr7:108175176..108176794,2	MCF-7	breast:
3	chr7:108164488..108174629-chr7:108175608..108181939,14	K562	blood:
4	chr7:108163122..108173185-chr7:108207236..108216619,40	K562	blood:
5	chr7:108175205..108176864-chr7:108190945..108193646,2	K562	blood:
6	chr7:108175296..108178679-chr7:108201125..108203447,3	K562	blood:
7	chr7:108173540..108175245-chr7:108207102..108209855,2	K562	blood:
8	chr7:108172423..108174629-chr7:108175217..108177443,4	K562	blood:
9	chr7:108174829..108177783-chr7:108186368..108189092,2	K562	blood:
10	chr7:108165819..108168153-chr7:108175715..108177570,2	MCF-7	breast:
11	chr7:108166704..108170075-chr7:108171703..108175384,5	MCF-7	breast:
12	chr7:108178264..108181237-chr7:108188016..108189662,2	MCF-7	breast:
13	chr7:108173587..108175885-chr7:108209615..108211951,2	MCF-7	breast:
14	chr7:108175375..108182018-chr7:108207477..108213332,11	K562	blood:
15	chr7:108172423..108174629-chr7:108175217..108177443,4	K562	blood:
16	chr7:108174082..108182018-chr7:108207303..108212626,11	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJB9-3	chr7:108177630-108178341	NONHSAT122738

No data

Variant related genes	Relation type
PNPLA8	TF binding region
ENSG00000177683	chromatin interactions
ENSG00000128590	chromatin interactions
ENSG00000135241	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs17155881	chr7:108173123-108173124	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530379338	chr7:108173159-108173160	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs550672697	chr7:108173205-108173206	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570419052	chr7:108173254-108173255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540288850	chr7:108173268-108173269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376543450	chr7:108173318-108173319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369035514	chr7:108173337-108173338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567289750	chr7:108173420-108173421	Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183638750	chr7:108173456-108173457	Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560290538	chr7:108173506-108173507	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114044661	chr7:108173512-108173513	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113283406	chr7:108173514-108173515	Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs148690479	chr7:108173533-108173534	Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34654634	chr7:108173612-108173613	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs574777656	chr7:108173617-108173618	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs528667103	chr7:108173680-108173681	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs545595864	chr7:108173703-108173704	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs537021380	chr7:108173738-108173739	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs148676643	chr7:108173769-108173770	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs557442184	chr7:108173787-108173788	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs374283243	chr7:108173879-108173880	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs40903	chr7:108173891-108173892	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs570640032	chr7:108173907-108173908	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs149230593	chr7:108173968-108173969	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs553646060	chr7:108173973-108173974	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs573437908	chr7:108174028-108174029	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs542543874	chr7:108174111-108174112	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs40904	chr7:108174117-108174118	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs40905	chr7:108174124-108174125	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs40906	chr7:108174150-108174151	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs201297480	chr7:108174181-108174182	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs55739756	chr7:108174189-108174190	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530544754	chr7:108174232-108174233	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs543904616	chr7:108174252-108174253	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs564085912	chr7:108174287-108174288	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs40907	chr7:108174296-108174297	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544243160	chr7:108174387-108174388	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs116951696	chr7:108174412-108174413	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs71568532	chr7:108174423-108174424	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs566339107	chr7:108174425-108174426	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs529004678	chr7:108174443-108174444	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs188325998	chr7:108174454-108174455	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs569020063	chr7:108174478-108174479	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs538126357	chr7:108174483-108174484	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs557124866	chr7:108174540-108174541	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs374504471	chr7:108174741-108174742	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs538175891	chr7:108174781-108174782	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs40908	chr7:108174809-108174810	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs539951288	chr7:108174877-108174878	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs181153959	chr7:108174885-108174886	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Acute myeloid leukemia	16864856	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108167400-108173400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:108167600-108176200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:108168800-108175800	Weak transcription	K562	blood
4	chr7:108173400-108173600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr7:108175800-108176200	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:108175800-108176600	Enhancers	K562	blood
7	chr7:108175800-108176800	Enhancers	Primary hematopoietic stem cells	blood
8	chr7:108175800-108177200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:108176200-108176400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:108176200-108176600	Enhancers	Primary B cells from cord blood	blood
11	chr7:108176200-108178800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:108176400-108178200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:108176600-108177000	Weak transcription	K562	blood
14	chr7:108176600-108178600	Weak transcription	Primary B cells from cord blood	blood
15	chr7:108176800-108178000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:108177000-108177600	Enhancers	K562	blood
17	chr7:108177200-108177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:108177600-108179200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:108177600-108179400	Flanking Active TSS	K562	blood
20	chr7:108177800-108179200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:108178000-108178600	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:108178200-108179600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:108178600-108179000	Enhancers	Primary B cells from cord blood	blood
24	chr7:108178800-108179400	Enhancers	Primary B cells from peripheral blood	blood
25	chr7:108178800-108180000	Enhancers	Liver	Liver
26	chr7:108179200-108179400	Enhancers	Spleen	Spleen
27	chr7:108179400-108180000	Enhancers	K562	blood

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