Variant report

Variant	nsv981817
Chromosome Location	chr7:109280619-109303295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:109288915-109288951	K562	blood:	n/a	n/a
2	ATF1	chr7:109299476-109299485	K562	blood:	n/a	n/a
3	CEBPB	chr7:109286716-109286917	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr7:109284397-109284659	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr7:109287401-109287723	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr7:109292980-109293130	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr7:109286743-109286828	LNCaP	prostate:	n/a	n/a
8	E2F4	chr7:109294882-109294988	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr7:109281514-109281685	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr7:109286875-109286892	Hela-S3	cervix:	n/a	n/a
11	EP300	chr7:109287401-109287601	Hela-S3	cervix:	n/a	n/a
12	FOS	chr7:109287390-109287588	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr7:109281674-109281830	MCF10A-Er-Src	breast:	n/a	chr7:109281738-109281748 chr7:109281737-109281749 chr7:109281739-109281747
14	FOS	chr7:109287448-109287479	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr7:109281595-109281879	MCF10A-Er-Src	breast:	n/a	chr7:109281738-109281748 chr7:109281737-109281749 chr7:109281739-109281747
16	FOS	chr7:109286288-109286468	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr7:109281595-109281892	MCF10A-Er-Src	breast:	n/a	chr7:109281738-109281748 chr7:109281737-109281749 chr7:109281739-109281747
18	FOS	chr7:109281574-109281876	MCF10A-Er-Src	breast:	n/a	chr7:109281738-109281748 chr7:109281737-109281749 chr7:109281739-109281747
19	FOS	chr7:109286220-109286488	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr7:109282918-109283191	HepG2	liver:	n/a	n/a
21	GATA3	chr7:109302736-109302748	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr7:109299345-109299502	SH-SY5Y	brain:	n/a	n/a
23	JUN	chr7:109302286-109302402	K562	blood:	n/a	n/a
24	MAFF	chr7:109299372-109299467	HepG2	liver:	n/a	n/a
25	MAFF	chr7:109297276-109297491	HepG2	liver:	n/a	chr7:109297403-109297421
26	MAFF	chr7:109297364-109297440	K562	blood:	n/a	chr7:109297403-109297421
27	MAFK	chr7:109299386-109299429	HepG2	liver:	n/a	n/a
28	MAFK	chr7:109297242-109297538	HepG2	liver:	n/a	chr7:109297407-109297421 chr7:109297409-109297420 chr7:109297409-109297420
29	MAX	chr7:109281791-109281866	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr7:109286352-109286411	Hela-S3	cervix:	n/a	n/a
31	MYC	chr7:109300670-109300698	MCF-7	breast:	n/a	n/a
32	MYC	chr7:109295055-109295153	MCF-7	breast:	n/a	n/a
33	MYC	chr7:109293535-109293643	MCF-7	breast:	n/a	n/a
34	NRF1	chr7:109302711-109302762	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr7:109286107-109286637	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr7:109286729-109287063	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr7:109281639-109281754	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr7:109287061-109287683	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr7:109281596-109281622	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr7:109286591-109286796	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr7:109283454-109283545	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:109286092-109286569	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:109281172-109281372	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr7:109286624-109286981	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr7:109285794-109285908	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr7:109287074-109287460	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr7:109281514-109281758	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr7:109300318-109300493	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr7:109286075-109287541	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr7:109300647-109300746	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:109302932..109305473-chr7:109306477..109308301,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJB9-5	chr7:109300688-109300946	NONHSAT122753
2	lnc-DNAJB9-5	chr7:109300151-109300859	NONHSAT122755
3	lnc-DNAJB9-4	chr7:109281035-109282154	FPKM1_group_30154_transcript_2
4	lnc-DNAJB9-4	chr7:109281035-109282154	NONHSAT122754
5	lnc-DNAJB9-4	chr7:109282717-109284286	NONHSAT122754
6	lnc-DNAJB9-4	chr7:109282717-109282873	FPKM1_group_30154_transcript_2

Variant related genes	Relation type
ENSG00000230192	TF binding region

Extended variants
information (count: 881 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368772144	chr7:109280671-109280672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537732019	chr7:109280710-109280711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13233353	chr7:109280713-109280714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114669613	chr7:109280726-109280727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576046204	chr7:109280758-109280759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371708209	chr7:109280767-109280768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146785939	chr7:109280809-109280810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541455376	chr7:109281092-109281093	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs182594068	chr7:109281100-109281101	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs78732623	chr7:109281199-109281200	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs7349968	chr7:109281214-109281215	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7350020	chr7:109281234-109281235	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532996821	chr7:109281256-109281257	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs185045062	chr7:109281273-109281274	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs559617230	chr7:109281322-109281323	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs528579877	chr7:109281404-109281405	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs573256618	chr7:109281423-109281424	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs548644430	chr7:109281426-109281427	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs13236909	chr7:109281441-109281442	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565408972	chr7:109281474-109281475	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs189861321	chr7:109281482-109281483	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs182462836	chr7:109281531-109281532	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs576814499	chr7:109281542-109281543	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs553832500	chr7:109281570-109281571	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs577422802	chr7:109281582-109281583	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs185364364	chr7:109281593-109281594	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs191490134	chr7:109281603-109281604	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs553512913	chr7:109281613-109281614	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs572640323	chr7:109281662-109281663	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs535172269	chr7:109281684-109281685	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs554994508	chr7:109281753-109281754	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs75025763	chr7:109281771-109281772	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs367943776	chr7:109281808-109281809	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs564245134	chr7:109281825-109281826	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs577846688	chr7:109281828-109281829	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs562441645	chr7:109281841-109281842	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs560286076	chr7:109281844-109281845	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs528644409	chr7:109281855-109281856	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs183253760	chr7:109281856-109281857	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs6949527	chr7:109281878-109281879	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2676681	chr7:109281892-109281893	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144274240	chr7:109281893-109281894	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs571087576	chr7:109281902-109281903	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs540112593	chr7:109281927-109281928	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs369416646	chr7:109281928-109281929	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs528658654	chr7:109281937-109281938	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs188664409	chr7:109281963-109281964	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs193091077	chr7:109281974-109281975	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs146734149	chr7:109281982-109281983	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs6967591	chr7:109282001-109282002	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109277000-109280800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:109278800-109300600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:109280200-109281600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:109280400-109281400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:109280600-109281600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:109280600-109282400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:109280800-109281200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:109281200-109281800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:109281600-109281800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr7:109281600-109281800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:109281600-109281800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:109281800-109282800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:109281800-109283600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:109282400-109283000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:109282800-109284000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:109283000-109283200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:109283200-109283400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:109283400-109283600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:109283600-109283800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr7:109283600-109283800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr7:109283800-109285400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:109283800-109285400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:109284800-109285200	Enhancers	Hela-S3	cervix
24	chr7:109285400-109287000	Active TSS	Hela-S3	cervix
25	chr7:109285400-109287400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:109285400-109288200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr7:109286800-109288200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:109287000-109287200	Flanking Active TSS	Hela-S3	cervix
29	chr7:109287200-109287400	Active TSS	Hela-S3	cervix
30	chr7:109287200-109288200	Enhancers	HMEC	breast
31	chr7:109287400-109288400	Enhancers	Hela-S3	cervix
32	chr7:109287800-109288800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:109293600-109293800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr7:109293800-109294600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:109296400-109297000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:109298000-109305400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:109300600-109300800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr7:109303000-109303600	Enhancers	Dnd41	blood

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