Variant report

Variant	nsv888272
Chromosome Location	chr7:63973216-64004876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:139)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:139 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:63975982-63976348	HepG2	liver:	n/a	n/a
2	BATF	chr7:64002090-64002343	GM12878	blood:	n/a	chr7:64002249-64002260
3	CEBPB	chr7:64003656-64003993	K562	blood:	n/a	n/a
4	CEBPB	chr7:63998918-63999176	HepG2	liver:	n/a	chr7:63999000-63999011
5	CEBPB	chr7:64003688-64003915	A549	lung:	n/a	n/a
6	CEBPB	chr7:63988092-63988272	HepG2	liver:	n/a	n/a
7	CTCF	chr7:63978300-63978450	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr7:63993005-63993027	GM10248	blood:	n/a	n/a
9	CTCF	chr7:63989120-63989270	SK-N-SH_RA	brain:	n/a	n/a
10	E2F4	chr7:63982515-63982872	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr7:63986803-63987273	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr7:64004529-64004646	MCF10A-Er-Src	breast:	n/a	n/a
13	ELF1	chr7:64001963-64002256	K562	blood:	n/a	n/a
14	ELK1	chr7:63980205-63980291	GM12878	blood:	n/a	n/a
15	EP300	chr7:63975764-63976167	T-47D	breast:	n/a	n/a
16	EP300	chr7:63976439-63976489	GM12878	blood:	n/a	n/a
17	EP300	chr7:63975623-63976194	T-47D	breast:	n/a	n/a
18	FAM48A	chr7:63985341-63985541	GM12878	blood:	n/a	n/a
19	FOS	chr7:64002093-64002417	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr7:63983537-63983806	HUVEC	blood vessel:	n/a	n/a
21	FOS	chr7:64002069-64002427	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr7:64002097-64002427	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr7:63975849-63976060	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr7:64002027-64002424	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL1	chr7:64002049-64002401	HCT-116	colon:	n/a	n/a
26	FOSL2	chr7:64002020-64002449	MCF-7	breast:	n/a	n/a
27	FOSL2	chr7:63975663-63976054	MCF-7	breast:	n/a	n/a
28	FOSL2	chr7:64002064-64002483	SK-N-SH	brain:	n/a	n/a
29	FOXA1	chr7:63976827-63977149	T-47D	breast:	n/a	n/a
30	FOXA1	chr7:63994235-63994772	T-47D	breast:	n/a	n/a
31	FOXA1	chr7:63975771-63975955	HepG2	liver:	n/a	n/a
32	FOXA1	chr7:63975742-63976040	HepG2	liver:	n/a	n/a
33	FOXA1	chr7:63976850-63977071	T-47D	breast:	n/a	n/a
34	FOXA1	chr7:63975697-63976186	T-47D	breast:	n/a	chr7:63976043-63976058
35	FOXA1	chr7:63975595-63976223	T-47D	breast:	n/a	chr7:63976043-63976058
36	FOXA1	chr7:63994442-63994701	T-47D	breast:	n/a	n/a
37	FOXA2	chr7:63975767-63975951	HepG2	liver:	n/a	n/a
38	GATA3	chr7:63975807-63976480	T-47D	breast:	n/a	n/a
39	GATA3	chr7:63975800-63976502	T-47D	breast:	n/a	n/a
40	GATA3	chr7:63978404-63978752	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr7:63982224-63982459	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr7:63994129-63994542	T-47D	breast:	n/a	n/a
43	GATA3	chr7:63979853-63980204	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr7:63986703-63986903	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr7:63981335-63981715	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr7:63975742-63976207	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr7:63973552-63973752	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr7:63985295-63985590	SH-SY5Y	brain:	n/a	n/a
49	IRF1	chr7:63985681-63985772	K562	blood:	n/a	n/a
50	IRF1	chr7:63986338-63986539	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:63967441..63969931-chr7:63971769..63973601,4	MCF-7	breast:
2	chr7:63997907..64000358-chr7:64837346..64839037,2	K562	blood:
3	chr7:63986578..63988293-chr7:64023127..64024903,2	K562	blood:
4	chr7:64000508..64002509-chr7:64009002..64010825,2	K562	blood:
5	chr7:64001009..64002704-chr7:64008725..64010502,2	K562	blood:
6	chr7:63968985..63971890-chr7:63971952..63973743,2	K562	blood:
7	chr7:64003492..64005655-chr7:64011278..64012854,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF117-5	chr7:63982828-63982878	NONHSAT121020
2	lnc-ZNF117-5	chr7:64004085-64004180	NONHSAT121019
3	lnc-ZNF117-5	chr7:64004724-64004810	NONHSAT121021
4	lnc-ZNF117-5	chr7:63982304-63982878	NONHSAT121019
5	lnc-ZNF117-5	chr7:64004085-64004597	NONHSAT121020
6	lnc-ZNF107-7	chr7:63977263-63978052	ucscGeneNc_uc003ttk_1
7	lnc-ZNF107-7	chr7:63986386-63987668	ucscGeneNc_uc003ttk_1

No data

Variant related genes	Relation type
ZNF680	TF binding region
ENSG00000223974	chromatin interactions
ENSG00000146757	chromatin interactions
ENSG00000173041	chromatin interactions

Extended variants
information (count: 1144 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1144 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10235312	chr7:63973216-63973217	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570484102	chr7:63973217-63973218	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573122235	chr7:63973281-63973282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111857233	chr7:63973287-63973288	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7786684	chr7:63973294-63973295	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35566106	chr7:63973295-63973296	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192169858	chr7:63973335-63973336	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182890166	chr7:63973342-63973343	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577377806	chr7:63973378-63973379	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575998876	chr7:63973400-63973401	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372641584	chr7:63973423-63973424	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541376063	chr7:63973464-63973465	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7803294	chr7:63973468-63973469	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs571996687	chr7:63973543-63973544	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144577710	chr7:63973599-63973600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540858737	chr7:63973640-63973641	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs563917907	chr7:63973669-63973670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs34143540	chr7:63973679-63973680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs532954406	chr7:63973720-63973721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs199851728	chr7:63973721-63973722	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543911809	chr7:63973799-63973800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563586540	chr7:63973805-63973806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187493438	chr7:63973807-63973808	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549389835	chr7:63973851-63973852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs566409972	chr7:63973866-63973867	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528775785	chr7:63973877-63973878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs547036052	chr7:63973945-63973946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552076898	chr7:63973951-63973952	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs200847029	chr7:63974023-63974024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571829663	chr7:63974028-63974029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200972882	chr7:63974029-63974030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs191948958	chr7:63974030-63974031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569644600	chr7:63974044-63974045	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542555796	chr7:63974190-63974191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565388904	chr7:63974222-63974223	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs10236450	chr7:63974282-63974283	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147497930	chr7:63974302-63974303	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs551123323	chr7:63974313-63974314	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs569770988	chr7:63974333-63974334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs575466103	chr7:63974339-63974340	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75576255	chr7:63974343-63974344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111747595	chr7:63974349-63974350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs140110146	chr7:63974354-63974355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs10239710	chr7:63974371-63974372	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563847026	chr7:63974384-63974385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532034703	chr7:63974411-63974412	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78067079	chr7:63974412-63974413	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543072390	chr7:63974508-63974509	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559809892	chr7:63974513-63974514	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141980713	chr7:63974547-63974548	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1165 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63964600-63997800	ZNF genes & repeats	Liver	Liver
2	chr7:63965000-63994800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:63966200-63997400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:63966400-63975000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:63966600-63981600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:63967400-63973600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:63967600-63989600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr7:63968800-63988200	ZNF genes & repeats	Dnd41	blood
9	chr7:63969000-63981600	Weak transcription	Right Ventricle	heart
10	chr7:63969000-63983600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr7:63970200-63975600	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:63970400-63975600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:63970400-63976000	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:63970400-63976000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:63970400-63976200	Weak transcription	Left Ventricle	heart
16	chr7:63970400-63976200	Weak transcription	Ovary	ovary
17	chr7:63970400-63976200	Weak transcription	Psoas Muscle	Psoas
18	chr7:63970400-63981000	Weak transcription	HSMM	muscle
19	chr7:63970400-63981200	Weak transcription	NH-A	brain
20	chr7:63970400-63988200	Weak transcription	Hela-S3	cervix
21	chr7:63970600-63974200	Weak transcription	A549	lung
22	chr7:63970600-63976200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:63970800-63975600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:63971600-63974800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:63971600-63977800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:63971600-63982200	Weak transcription	Placenta	Placenta
27	chr7:63971800-63974000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:63972000-63974400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:63972000-63975200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:63972000-63975600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:63972000-63980000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:63972200-63975600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:63972200-63975600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:63972400-63974200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:63972400-63974600	Weak transcription	NHDF-Ad	bronchial
36	chr7:63973000-63973600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:63973000-63974200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:63973000-63974800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:63973000-63981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:63973200-63974800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr7:63973400-63974000	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr7:63973600-63974400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:63973600-63978400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:63973600-63979400	Weak transcription	Stomach Mucosa	stomach
45	chr7:63974000-63974400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr7:63974000-63974600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:63974000-63975200	Weak transcription	Adipose Nuclei	Adipose
48	chr7:63974200-63974400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:63974200-63974600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr7:63974200-63974600	ZNF genes & repeats	A549	lung

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