Variant report

Variant	nsv608346
Chromosome Location	chr7:124962085-124996787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr7:124995927-124996331	GM12878	blood:	n/a	n/a
2	ATF2	chr7:124995766-124996416	GM12878	blood:	n/a	n/a
3	BATF	chr7:124996009-124996436	GM12878	blood:	n/a	n/a
4	BATF	chr7:124996043-124996381	GM12878	blood:	n/a	n/a
5	BCL11A	chr7:124995894-124996370	GM12878	blood:	n/a	n/a
6	BCL3	chr7:124995875-124996328	GM12878	blood:	n/a	n/a
7	BHLHE40	chr7:124995944-124996351	GM12878	blood:	n/a	n/a
8	CEBPB	chr7:124970621-124970919	HepG2	liver:	n/a	n/a
9	CEBPB	chr7:124988292-124988456	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr7:124988349-124988457	K562	blood:	n/a	n/a
11	CEBPB	chr7:124971430-124971613	H1-hESC	embryonic stem cell:	n/a	chr7:124971556-124971569 chr7:124971558-124971569 chr7:124971556-124971569
12	CEBPB	chr7:124970724-124970817	A549	lung:	n/a	n/a
13	CEBPB	chr7:124989938-124990049	A549	lung:	n/a	chr7:124990012-124990025
14	CHD1	chr7:124976970-124977013	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr7:124996022-124996326	GM12878	blood:	n/a	n/a
16	CTCF	chr7:124992879-124992893	GM20000	blood:	n/a	n/a
17	CTCF	chr7:124977520-124977670	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr7:124987840-124987990	NHEK	skin:	n/a	n/a
19	CTCF	chr7:124966070-124966088	MCF-7	breast:	n/a	n/a
20	CUX1	chr7:124996044-124996225	GM12878	blood:	n/a	n/a
21	E2F4	chr7:124977030-124977205	MCF10A-Er-Src	breast:	n/a	n/a
22	EBF1	chr7:124966684-124967271	GM12878	blood:	n/a	n/a
23	EBF1	chr7:124995988-124996270	GM12878	blood:	n/a	chr7:124996185-124996196
24	EBF1	chr7:124990598-124990984	GM12878	blood:	n/a	chr7:124990787-124990798
25	EBF1	chr7:124995999-124996277	GM12878	blood:	n/a	chr7:124996185-124996196
26	EBF1	chr7:124995814-124996416	GM12878	blood:	n/a	chr7:124996185-124996196
27	EGR1	chr7:124996037-124996332	GM12878	blood:	n/a	n/a
28	EP300	chr7:124966906-124967092	GM12878	blood:	n/a	n/a
29	EP300	chr7:124966922-124966929	GM12878	blood:	n/a	n/a
30	EP300	chr7:124971443-124971569	GM12878	blood:	n/a	n/a
31	EP300	chr7:124996063-124996263	GM12878	blood:	n/a	n/a
32	EP300	chr7:124995820-124996355	GM12878	blood:	n/a	n/a
33	EP300	chr7:124966804-124967296	GM12878	blood:	n/a	chr7:124967136-124967145 chr7:124966893-124966903
34	EP300	chr7:124995740-124996389	GM12878	blood:	n/a	n/a
35	FOS	chr7:124996083-124996254	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr7:124996078-124996186	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr7:124995967-124996426	HUVEC	blood vessel:	n/a	n/a
38	FOS	chr7:124987333-124987685	HUVEC	blood vessel:	n/a	n/a
39	FOXM1	chr7:124995784-124996530	GM12878	blood:	n/a	n/a
40	FOXM1	chr7:124995927-124996444	GM12878	blood:	n/a	n/a
41	GATA2	chr7:124987323-124987721	HUVEC	blood vessel:	n/a	n/a
42	GATA2	chr7:124996003-124996425	HUVEC	blood vessel:	n/a	n/a
43	GATA3	chr7:124969774-124969780	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr7:124984567-124984765	SH-SY5Y	brain:	n/a	n/a
45	IKZF1	chr7:124996030-124996273	GM12878	blood:	n/a	n/a
46	JUN	chr7:124995947-124996496	HUVEC	blood vessel:	n/a	n/a
47	JUN	chr7:124987363-124987720	HUVEC	blood vessel:	n/a	n/a
48	JUN	chr7:124970653-124970856	HepG2	liver:	n/a	chr7:124970706-124970719
49	JUND	chr7:124969391-124969531	HepG2	liver:	n/a	n/a
50	JUND	chr7:124970635-124970833	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:124979372..124981820-chr7:124985278..124987442,3	K562	blood:
2	chr7:124656588..124658906-chr7:124962987..124965229,2	K562	blood:
3	chr7:124558834..124561175-chr7:124980135..124981921,2	K562	blood:
4	chr7:124965414..124966985-chr7:125006930..125009873,2	K562	blood:
5	chr6:38756306..38758851-chr7:124960777..124963063,2	MCF-7	breast:
6	chr7:124980320..124982022-chr7:124985560..124987145,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-5	chr7:124969736-124969801	ENSG00000237764.2
2	lnc-SPAM1-5	chr7:124987179-124987261	NONHSAT123102
3	lnc-SPAM1-5	chr7:124969736-124969801	NONHSAT123102
4	lnc-SPAM1-5	chr7:124970311-124970457	ENSG00000237764.2
5	lnc-SPAM1-8	chr7:124985023-124985431	NONHSAT123106
6	lnc-SPAM1-5	chr7:124969736-124969801	NR_110188
7	lnc-SPAM1-5	chr7:124970311-124970457	NR_110188
8	lnc-SPAM1-5	chr7:124975307-124975469	NR_110188
9	lnc-SPAM1-5	chr7:124987179-124987261	ENSG00000237764.2
10	lnc-SPAM1-5	chr7:124975307-124975469	ENSG00000237764.2
11	lnc-SPAM1-5	chr7:124987179-124987261	NR_110188
12	lnc-SPAM1-5	chr7:124975307-124975469	NONHSAT123102
13	lnc-SPAM1-9	chr7:124985879-124986251	NONHSAT123107
14	lnc-SPAM1-5	chr7:124970311-124970457	NONHSAT123102

No data

Variant related genes	Relation type
ENSG00000227847	TF binding region
ENSG00000234071	TF binding region
ENSG00000227847	chromatin interactions

Extended variants
information (count: 977 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1559971	chr7:124962085-124962086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182581383	chr7:124962147-124962148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533931575	chr7:124962187-124962188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112452427	chr7:124962263-124962264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373552537	chr7:124962272-124962273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575201518	chr7:124962280-124962281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570435944	chr7:124962304-124962305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539028736	chr7:124962348-124962349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111820601	chr7:124962364-124962365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576043898	chr7:124962389-124962390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1559970	chr7:124962413-124962414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187195560	chr7:124962424-124962425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142064633	chr7:124962428-124962429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540732938	chr7:124962518-124962519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560352399	chr7:124962532-124962533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145722362	chr7:124962533-124962534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545823944	chr7:124962571-124962572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138674617	chr7:124962603-124962604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531539096	chr7:124962635-124962636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190880761	chr7:124962638-124962639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568246343	chr7:124962640-124962641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141316926	chr7:124962661-124962662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547485272	chr7:124962695-124962696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182739256	chr7:124962696-124962697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539496555	chr7:124962699-124962700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573472582	chr7:124962713-124962714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554436650	chr7:124962716-124962717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150384189	chr7:124962717-124962718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370121608	chr7:124962753-124962754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138027553	chr7:124962754-124962755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555263444	chr7:124962832-124962833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574995240	chr7:124962836-124962837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374557468	chr7:124962837-124962838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149521550	chr7:124962928-124962929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368172273	chr7:124962992-124962993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112861603	chr7:124962994-124962995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28612269	chr7:124962995-124962996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189047722	chr7:124962999-124963000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545881470	chr7:124963001-124963002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562586995	chr7:124963011-124963012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575980103	chr7:124963078-124963079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193129814	chr7:124963097-124963098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576436077	chr7:124963181-124963182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561799635	chr7:124963203-124963204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202205389	chr7:124963390-124963391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541867120	chr7:124963473-124963474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78184990	chr7:124963502-124963503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28716293	chr7:124963508-124963509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564297828	chr7:124963514-124963515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184281860	chr7:124963555-124963556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124962000-124984400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124974400-124974600	Enhancers	Pancreas	Pancrea
3	chr7:124975200-124977200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:124975200-124977600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:124975400-124976800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:124975400-124977600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:124975600-124975800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:124975600-124975800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:124975600-124976400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:124975600-124976600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:124975600-124977400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:124975800-124976600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:124975800-124976800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:124976600-124977200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:124976800-124977200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:124977200-124978000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:124979000-124979200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:124985800-124986400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:124987000-124988200	Enhancers	HUVEC	blood vessel
20	chr7:124995000-124996000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:124995600-124999400	Enhancers	HUVEC	blood vessel
22	chr7:124995800-124996800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:124995800-124999000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:124996000-124996200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:124996000-124996600	Enhancers	NH-A	brain
26	chr7:124996000-124997000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:124996400-124997600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:124996600-124997000	Weak transcription	NH-A	brain

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