Variant report

Variant	nsv823986
Chromosome Location	chr7:3442319-3469844
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	CEBPB	chr7:3444003-3444489	MCF-7	breast:	n/a	n/a
2	CEBPB	chr7:3457543-3457997	H1-hESC	embryonic stem cell:	n/a	chr7:3457585-3457598 chr7:3457585-3457598
3	CEBPB	chr7:3443878-3444610	MCF-7	breast:	n/a	n/a
4	CTCF	chr7:3469703-3469748	MCF-7	breast:	n/a	n/a
5	CTCF	chr7:3465877-3465954	Fibrobl	skin:	n/a	n/a
6	CTCF	chr7:3464411-3464473	MCF-7	breast:	n/a	n/a
7	EBF1	chr7:3448505-3448851	GM12878	blood:	n/a	n/a
8	ELF1	chr7:3443969-3444545	MCF-7	breast:	n/a	n/a
9	EP300	chr7:3443999-3444469	SK-N-SH	brain:	n/a	n/a
10	EP300	chr7:3444061-3444454	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr7:3442781-3445607	SK-N-SH	brain:	n/a	chr7:3442936-3442950
12	EP300	chr7:3443963-3444491	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr7:3442978-3443298	HepG2	liver:	n/a	n/a
14	FOS	chr7:3444018-3444446	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr7:3469813-3469845	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr7:3469778-3469815	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr7:3444169-3444406	MCF10A-Er-Src	breast:	n/a	n/a
18	FOSL2	chr7:3444073-3444520	MCF-7	breast:	n/a	n/a
19	FOSL2	chr7:3442870-3443379	MCF-7	breast:	n/a	chr7:3443096-3443104 chr7:3443095-3443106 chr7:3443095-3443105 chr7:3443095-3443105 chr7:3443094-3443106
20	FOSL2	chr7:3442967-3443249	HepG2	liver:	n/a	chr7:3443096-3443104 chr7:3443095-3443106 chr7:3443095-3443105 chr7:3443095-3443105 chr7:3443094-3443106
21	FOXA1	chr7:3442863-3443399	HepG2	liver:	n/a	n/a
22	FOXA1	chr7:3442929-3443410	HepG2	liver:	n/a	n/a
23	FOXA1	chr7:3444220-3444379	T-47D	breast:	n/a	n/a
24	FOXA2	chr7:3442997-3443304	HepG2	liver:	n/a	n/a
25	FOXM1	chr7:3443798-3444562	MCF-7	breast:	n/a	n/a
26	GATA2	chr7:3450850-3451391	SH-SY5Y	brain:	n/a	n/a
27	GATA2	chr7:3444977-3445205	SH-SY5Y	brain:	n/a	n/a
28	GATA2	chr7:3443945-3444472	HUVEC	blood vessel:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
29	GATA2	chr7:3444025-3444531	SH-SY5Y	brain:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
30	GATA2	chr7:3464761-3464998	SH-SY5Y	brain:	n/a	chr7:3464869-3464878 chr7:3464922-3464931 chr7:3464921-3464931 chr7:3464922-3464929 chr7:3464920-3464932
31	GATA3	chr7:3443933-3444642	MCF-7	breast:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
32	GATA3	chr7:3451000-3451444	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr7:3444072-3444456	T-47D	breast:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
34	GATA3	chr7:3443525-3444710	MCF-7	breast:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
35	GATA3	chr7:3445012-3445358	SH-SY5Y	brain:	n/a	chr7:3445267-3445283 chr7:3445274-3445281
36	GATA3	chr7:3443934-3444477	MCF-7	breast:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
37	GATA3	chr7:3455504-3455704	SH-SY5Y	brain:	n/a	chr7:3455515-3455523
38	GATA3	chr7:3443822-3444784	SK-N-SH	brain:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
39	GATA3	chr7:3464776-3465123	SH-SY5Y	brain:	n/a	chr7:3464869-3464878 chr7:3464922-3464931 chr7:3464921-3464931 chr7:3464922-3464929 chr7:3464920-3464932
40	GATA3	chr7:3444047-3444454	T-47D	breast:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
41	GATA3	chr7:3443926-3444610	SH-SY5Y	brain:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
42	GATA3	chr7:3443015-3443333	MCF-7	breast:	n/a	n/a
43	GATA3	chr7:3442761-3443473	MCF-7	breast:	n/a	n/a
44	GATA3	chr7:3455547-3456083	MCF-7	breast:	n/a	chr7:3455981-3455992
45	GATA3	chr7:3443889-3444714	SK-N-SH	brain:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
46	GATA3	chr7:3454813-3454894	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr7:3442807-3443479	MCF-7	breast:	n/a	n/a
48	GATA3	chr7:3443851-3444497	MCF-7	breast:	n/a	chr7:3444276-3444292 chr7:3444273-3444294 chr7:3444276-3444292 chr7:3444279-3444289
49	HDAC2	chr7:3444016-3444551	MCF-7	breast:	n/a	n/a
50	HDAC2	chr7:3444025-3444567	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:3441889..3444490-chr7:3452543..3454242,2	MCF-7	breast:
2	chr7:3444047..3446365-chr7:3452049..3455174,3	MCF-7	breast:
3	chr7:3443032..3445719-chr7:3938528..3940389,2	MCF-7	breast:
4	chr7:3452987..3455737-chr7:3457417..3460056,3	MCF-7	breast:
5	chr7:3441889..3444490-chr7:3452543..3454242,2	MCF-7	breast:
6	chr7:3339718..3341766-chr7:3458306..3459954,2	K562	blood:
7	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
8	chr7:3442245..3445067-chr7:3448256..3450121,2	MCF-7	breast:
9	chr7:3435622..3438009-chr7:3442617..3444470,2	MCF-7	breast:
10	chr7:3463184..3466150-chr7:3469039..3471328,2	MCF-7	breast:
11	chr7:3444047..3446365-chr7:3452049..3455174,3	MCF-7	breast:
12	chr7:3444122..3444632-chr7:3471439..3472016,2	MCF-7	breast:
13	chr7:3436200..3438648-chr7:3443337..3445077,2	K562	blood:
14	chr7:3240198..3242825-chr7:3445733..3447901,2	K562	blood:
15	chr7:3466489..3468571-chr7:3470496..3474286,3	MCF-7	breast:
16	chr7:3438230..3440428-chr7:3448766..3450871,2	MCF-7	breast:
17	chr7:3467584..3469607-chr7:3473579..3476455,2	MCF-7	breast:
18	chr7:3442245..3445067-chr7:3448256..3450121,2	MCF-7	breast:
19	chr7:3436200..3439462-chr7:3442138..3445077,3	K562	blood:
20	chr7:3463184..3466150-chr7:3469039..3471328,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211544	TF binding region
ENSG00000146555	chromatin interactions
ENSG00000211544	chromatin interactions

Extended variants
information (count: 1490 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1490 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191108565	chr7:3442323-3442324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183994120	chr7:3442343-3442344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73052680	chr7:3442385-3442386	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73034704	chr7:3442402-3442403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200960518	chr7:3442404-3442405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531026847	chr7:3442415-3442416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539183988	chr7:3442417-3442418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550867195	chr7:3442423-3442424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557703615	chr7:3442435-3442436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569544826	chr7:3442476-3442477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145328822	chr7:3442499-3442500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71527444	chr7:3442530-3442531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546671670	chr7:3442537-3442538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373501686	chr7:3442551-3442552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535424860	chr7:3442568-3442569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73298347	chr7:3442573-3442574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142648322	chr7:3442574-3442575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371230310	chr7:3442581-3442582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371054648	chr7:3442589-3442590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144665769	chr7:3442593-3442594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538044356	chr7:3442596-3442597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557631097	chr7:3442597-3442598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188607441	chr7:3442600-3442601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558581185	chr7:3442614-3442615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546029645	chr7:3442649-3442650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111587307	chr7:3442654-3442655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6944000	chr7:3442660-3442661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201499526	chr7:3442688-3442689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199626100	chr7:3442689-3442690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571740649	chr7:3442698-3442699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116999146	chr7:3442718-3442719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531063725	chr7:3442744-3442745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544880556	chr7:3442775-3442776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564571057	chr7:3442786-3442787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533546972	chr7:3442810-3442811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546411527	chr7:3442870-3442871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6969044	chr7:3442871-3442872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528916571	chr7:3442882-3442883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548949900	chr7:3442941-3442942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569179033	chr7:3442945-3442946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542655719	chr7:3442954-3442955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192989147	chr7:3443022-3443023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551652574	chr7:3443030-3443031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571383577	chr7:3443031-3443032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143613739	chr7:3443044-3443045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183271919	chr7:3443055-3443056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572975370	chr7:3443096-3443097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535459730	chr7:3443112-3443113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6945914	chr7:3443139-3443140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs55712570	chr7:3443140-3443141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3437800-3448000	Weak transcription	Fetal Heart	heart
2	chr7:3439600-3444200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:3439800-3444800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:3440000-3444400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:3442000-3442400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:3442400-3442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:3442800-3443000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:3443000-3443400	Enhancers	HepG2	liver
9	chr7:3443000-3443800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:3443600-3444600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:3443600-3444800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:3443600-3445000	Enhancers	NHEK	skin
13	chr7:3443600-3446800	Enhancers	Fetal Lung	lung
14	chr7:3443800-3444400	Enhancers	Adipose Nuclei	Adipose
15	chr7:3443800-3444400	Enhancers	Fetal Brain Female	brain
16	chr7:3443800-3444800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:3443800-3444800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:3443800-3450200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:3444200-3444600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:3444200-3445000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:3444400-3444600	Enhancers	Fetal Kidney	kidney
22	chr7:3444400-3444800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr7:3444400-3445000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:3444400-3446400	Weak transcription	Adipose Nuclei	Adipose
25	chr7:3444400-3451800	Weak transcription	Fetal Brain Female	brain
26	chr7:3444600-3445200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:3444600-3445200	Enhancers	Fetal Brain Male	brain
28	chr7:3444600-3446200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:3444600-3446200	Weak transcription	Fetal Kidney	kidney
30	chr7:3444800-3445800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:3444800-3454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:3445000-3448800	Weak transcription	NHEK	skin
33	chr7:3445200-3446400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:3445200-3448400	Weak transcription	Fetal Brain Male	brain
35	chr7:3445800-3446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:3446000-3446200	Enhancers	Aorta	Aorta
37	chr7:3446000-3446200	Enhancers	Left Ventricle	heart
38	chr7:3446200-3446800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:3446200-3447000	Enhancers	Fetal Kidney	kidney
40	chr7:3446200-3447400	Weak transcription	Left Ventricle	heart
41	chr7:3446200-3449000	Weak transcription	Aorta	Aorta
42	chr7:3446400-3446800	Enhancers	Adipose Nuclei	Adipose
43	chr7:3446400-3447000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:3446800-3447600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:3446800-3448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:3446800-3448400	Weak transcription	Fetal Lung	lung
47	chr7:3447000-3447600	Enhancers	Pancreas	Pancrea
48	chr7:3447000-3457000	Weak transcription	Fetal Kidney	kidney
49	chr7:3447400-3447600	Enhancers	Left Ventricle	heart
50	chr7:3447600-3448600	Weak transcription	Left Ventricle	heart

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