Variant report

Variant	nsv521824
Chromosome Location	chr7:85091003-85099898
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	chr7:85097504-85097820	IMR90	lung:	n/a	chr7:85097670-85097681
2	CEBPB	chr7:85097568-85097756	H1-hESC	embryonic stem cell:	n/a	chr7:85097670-85097681
3	CEBPB	chr7:85097511-85097798	HepG2	liver:	n/a	chr7:85097670-85097681
4	CEBPB	chr7:85099134-85099356	HepG2	liver:	n/a	n/a
5	CTCF	chr7:85093960-85094110	NHEK	skin:	n/a	n/a
6	CTCF	chr7:85093682-85093851	H1-hESC	embryonic stem cell:	n/a	chr7:85093770-85093791
7	CTCF	chr7:85093680-85093830	HMEC	breast:	n/a	chr7:85093770-85093791
8	CTCF	chr7:85093640-85093790	GM12871	blood:	n/a	n/a
9	CTCF	chr7:85093940-85094090	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chr7:85093500-85093650	GM06990	blood:	n/a	n/a
11	CTCF	chr7:85093800-85093950	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr7:85093720-85093870	SAEC	small airway:	n/a	chr7:85093770-85093791
13	CTCF	chr7:85093920-85094070	HAc	cerebellar:	n/a	n/a
14	CTCF	chr7:85093880-85094030	AG04450	lung:	n/a	n/a
15	CTCF	chr7:85093660-85093810	AG09319	gingival:	n/a	chr7:85093770-85093791
16	CTCF	chr7:85093960-85094110	SAEC	small airway:	n/a	n/a
17	CTCF	chr7:85093720-85093870	HCPEpiC	choroid plexus:	n/a	chr7:85093770-85093791
18	CTCF	chr7:85093980-85094130	HMF	breast:	n/a	n/a
19	CTCF	chr7:85093760-85093910	HCT-116	colon:	n/a	chr7:85093770-85093791
20	CTCF	chr7:85093680-85093830	AG04449	skin:	n/a	chr7:85093770-85093791
21	CTCF	chr7:85093800-85093950	HCM	heart:	n/a	n/a
22	CTCF	chr7:85093620-85093770	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr7:85094120-85094270	AG09309	skin:	n/a	n/a
24	CTCF	chr7:85093880-85094030	AG04449	skin:	n/a	n/a
25	CTCF	chr7:85093688-85093896	Medullo	brain:	n/a	chr7:85093770-85093791
26	CTCF	chr7:85093680-85093830	AG10803	skin:	n/a	chr7:85093770-85093791
27	CTCF	chr7:85093512-85094039	MCF-7	breast:	n/a	chr7:85093770-85093791
28	CTCF	chr7:85093980-85094130	HMEC	breast:	n/a	n/a
29	CTCF	chr7:85093820-85093970	HVMF	connective:	n/a	n/a
30	CTCF	chr7:85094200-85094350	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr7:85093680-85093830	HMF	breast:	n/a	chr7:85093770-85093791
32	CTCF	chr7:85093780-85093930	HFF	foreskin:	n/a	n/a
33	CTCF	chr7:85093720-85093870	HPAF	blood vessel:	n/a	chr7:85093770-85093791
34	CTCF	chr7:85093642-85093960	GM12878	blood:	n/a	chr7:85093770-85093791
35	CTCF	chr7:85093360-85093510	NB4	blood:	n/a	n/a
36	CTCF	chr7:85093700-85093850	HRE	kidney:	n/a	chr7:85093770-85093791
37	CTCF	chr7:85093960-85094110	AG09319	gingival:	n/a	n/a
38	CTCF	chr7:85093700-85093850	HPAF	blood vessel:	n/a	chr7:85093770-85093791
39	CTCF	chr7:85093940-85094090	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr7:85093580-85093730	GM12878	blood:	n/a	n/a
41	CTCF	chr7:85093640-85093790	HPF	lung:	n/a	n/a
42	CTCF	chr7:85093740-85093890	HMEC	breast:	n/a	chr7:85093770-85093791
43	CTCF	chr7:85093407-85094010	IMR90	lung:	n/a	chr7:85093770-85093791
44	CTCF	chr7:85093960-85094110	AG04450	lung:	n/a	n/a
45	CTCF	chr7:85094140-85094290	BE2_C	brain:	n/a	n/a
46	CTCF	chr7:85093760-85094050	AG09309	skin:	n/a	chr7:85093770-85093791
47	CTCF	chr7:85093740-85093890	HBMEC	blood vessel:	n/a	chr7:85093770-85093791
48	CTCF	chr7:85093960-85094110	NB4	blood:	n/a	n/a
49	CTCF	chr7:85093900-85094050	NHLF	lung:	n/a	n/a
50	CTCF	chr7:85093640-85093790	NHEK	skin:	n/a	n/a

Variant related genes	Relation type
LINC00972	TF binding region

Extended variants
information (count: 170 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs1528500	chr7:85091003-85091004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187630988	chr7:85091123-85091124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544221303	chr7:85091126-85091127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142940474	chr7:85091137-85091138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192797903	chr7:85091140-85091141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571379582	chr7:85091144-85091145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532316529	chr7:85091152-85091153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533187659	chr7:85091164-85091165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550834281	chr7:85091176-85091177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1528501	chr7:85091181-85091182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183618024	chr7:85091251-85091252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554561975	chr7:85091259-85091260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114551104	chr7:85091304-85091305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562608917	chr7:85091318-85091319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559188977	chr7:85091388-85091389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577406196	chr7:85091393-85091394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2462063	chr7:85091432-85091433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189441525	chr7:85091482-85091483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527788097	chr7:85091559-85091560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575421068	chr7:85091590-85091591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542708644	chr7:85091625-85091626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57860039	chr7:85091634-85091635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35922536	chr7:85091656-85091657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139906369	chr7:85091658-85091659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371743900	chr7:85091660-85091661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181835722	chr7:85091666-85091667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540190488	chr7:85091670-85091671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149418290	chr7:85091706-85091707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575526090	chr7:85091779-85091780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73389581	chr7:85091829-85091830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568928220	chr7:85091832-85091833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35295520	chr7:85091841-85091842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530157881	chr7:85091847-85091848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397689571	chr7:85091851-85091852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548257432	chr7:85091865-85091866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114548711	chr7:85091881-85091882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184398594	chr7:85091894-85091895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560736971	chr7:85091908-85091909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527921788	chr7:85091962-85091963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377205620	chr7:85091978-85091979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148506199	chr7:85092018-85092019	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs559033146	chr7:85092066-85092067	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs571127362	chr7:85092111-85092112	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs7788058	chr7:85092117-85092118	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556732019	chr7:85092122-85092123	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs142843632	chr7:85092129-85092130	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs536380679	chr7:85092150-85092151	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190119331	chr7:85092153-85092154	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538608152	chr7:85092168-85092169	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs181282663	chr7:85092189-85092190	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85090800-85092000	Enhancers	Fetal Lung	lung
2	chr7:85090800-85092000	Enhancers	Fetal Stomach	stomach
3	chr7:85092000-85092200	Flanking Active TSS	Fetal Lung	lung
4	chr7:85092200-85092600	Enhancers	Fetal Lung	lung
5	chr7:85096000-85096400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:85097200-85097400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:85097600-85099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:85098200-85098800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:85098200-85103400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:85098600-85098800	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:85098800-85099200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:85099000-85100200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:85099200-85099600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:85099200-85100800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:85099600-85100800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:85099800-85101000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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