Variant report

Variant	nsv889095
Chromosome Location	chr7:118016847-118097679
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	CCNT2	chr7:118031384-118031548	K562	blood:	n/a	n/a
2	CEBPB	chr7:118048250-118048491	A549	lung:	n/a	n/a
3	CEBPB	chr7:118051023-118051220	A549	lung:	n/a	chr7:118051207-118051220
4	CEBPB	chr7:118019539-118019852	IMR90	lung:	n/a	chr7:118019682-118019693
5	CEBPB	chr7:118019517-118019842	A549	lung:	n/a	chr7:118019682-118019693
6	CEBPB	chr7:118019603-118019854	K562	blood:	n/a	chr7:118019682-118019693
7	CEBPB	chr7:118019508-118019872	HepG2	liver:	n/a	chr7:118019682-118019693
8	CEBPB	chr7:118053667-118053871	HepG2	liver:	n/a	chr7:118053800-118053817 chr7:118053805-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053814
9	CEBPB	chr7:118053690-118053894	IMR90	lung:	n/a	chr7:118053800-118053817 chr7:118053805-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053814
10	CTCF	chr7:118038940-118039090	RPTEC	kidney:	n/a	n/a
11	CTCF	chr7:118066554-118066609	Lung_OC	lung:	n/a	n/a
12	CTCF	chr7:118065700-118065850	BJ	skin:	n/a	n/a
13	CTCF	chr7:118029180-118029330	Caco-2	colon:	n/a	n/a
14	CTCF	chr7:118064600-118064750	NB4	blood:	n/a	n/a
15	CTCF	chr7:118039094-118039145	GM19238	blood:	n/a	n/a
16	CTCF	chr7:118039063-118039189	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:118039000-118039270	RPTEC	kidney:	n/a	n/a
18	CTCF	chr7:118077440-118077590	HepG2	liver:	n/a	n/a
19	CTCF	chr7:118073313-118073383	Lung_OC	lung:	n/a	n/a
20	CTCF	chr7:118080166-118080227	Spleen_OC	spleen:	n/a	n/a
21	E2F4	chr7:118061105-118061217	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr7:118065571-118065688	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr7:118088516-118088899	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr7:118024199-118024555	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr7:118068969-118069393	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F6	chr7:118076631-118077189	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F6	chr7:118076712-118077100	H1-hESC	embryonic stem cell:	n/a	n/a
28	EP300	chr7:118029727-118029945	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr7:118029304-118030447	SK-N-SH	brain:	n/a	chr7:118030232-118030246
30	FAM48A	chr7:118074610-118074735	GM12878	blood:	n/a	n/a
31	FOS	chr7:118019594-118019874	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr7:118019582-118019813	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr7:118019536-118019880	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr7:118019542-118019857	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXP2	chr7:118018850-118019113	SK-N-MC	brain:	n/a	n/a
36	GATA2	chr7:118069238-118069542	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr7:118056635-118056935	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr7:118069333-118069465	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr7:118092918-118093144	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr7:118065777-118065789	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr7:118026026-118026199	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr7:118062078-118062098	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr7:118029826-118029992	SH-SY5Y	brain:	n/a	chr7:118029869-118029876 chr7:118029869-118029876 chr7:118029868-118029878 chr7:118029865-118029881 chr7:118029869-118029876 chr7:118029862-118029883
44	GATA3	chr7:118049575-118049693	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr7:118026729-118027235	SH-SY5Y	brain:	n/a	n/a
46	IRF1	chr7:118090029-118090040	K562	blood:	n/a	n/a
47	JUN	chr7:118082787-118082963	HepG2	liver:	n/a	chr7:118082810-118082823
48	JUN	chr7:118028306-118028504	K562	blood:	n/a	n/a
49	JUN	chr7:118035042-118035234	K562	blood:	n/a	n/a
50	JUND	chr7:118018775-118018961	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:118055742..118058458-chr7:118058917..118061790,2	K562	blood:
2	chr7:118088557..118090123-chr7:118090834..118093671,2	K562	blood:
3	chr7:118064259..118066722-chr7:118067170..118069262,2	K562	blood:
4	chr7:118088557..118090123-chr7:118090834..118093671,2	K562	blood:
5	chr7:118064259..118066722-chr7:118067170..118069262,2	K562	blood:
6	chr7:118094852..118097400-chr7:118111770..118114661,2	K562	blood:
7	chr7:118057355..118058880-chr7:118063444..118065821,2	MCF-7	breast:
8	chr7:118055742..118058458-chr7:118058917..118061790,2	K562	blood:
9	chr7:118055217..118057718-chr7:118101905..118103511,2	K562	blood:
10	chr7:118093376..118094985-chr7:118098864..118100577,2	K562	blood:
11	chr7:118057355..118058880-chr7:118063444..118065821,2	MCF-7	breast:
12	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
13	chr7:118093376..118097334-chr7:118098069..118100577,4	K562	blood:
14	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
15	chr7:118002902..118005876-chr7:118043767..118045585,2	K562	blood:

Variant related genes	Relation type
ENSG00000222226	TF binding region
ENSG00000222226	chromatin interactions

Extended variants
information (count: 375 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370092635	chr7:118018467-118018468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149886134	chr7:118018486-118018487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111737530	chr7:118018493-118018494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527783677	chr7:118018509-118018510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144905052	chr7:118018541-118018542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564490064	chr7:118018611-118018612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531703362	chr7:118018612-118018613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184895734	chr7:118018652-118018653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34029977	chr7:118018673-118018674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs377333370	chr7:118018678-118018679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568320866	chr7:118018687-118018688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529140598	chr7:118018712-118018713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189405934	chr7:118018727-118018728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12706182	chr7:118018779-118018780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs192744801	chr7:118018794-118018795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145250726	chr7:118018798-118018799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374804105	chr7:118018799-118018800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73485591	chr7:118025619-118025620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372308695	chr7:118025637-118025638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200213948	chr7:118025677-118025678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561008998	chr7:118025685-118025686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183777538	chr7:118025686-118025687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529938651	chr7:118025692-118025693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374588873	chr7:118025721-118025722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560340245	chr7:118025731-118025732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2402353	chr7:118025763-118025764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs72499548	chr7:118025792-118025793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566980524	chr7:118025809-118025810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546210926	chr7:118025848-118025849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564421686	chr7:118025856-118025857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114953784	chr7:118025862-118025863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369047121	chr7:118025877-118025878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567061753	chr7:118025878-118025879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11766194	chr7:118025923-118025924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs11769403	chr7:118025942-118025943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs188305906	chr7:118025974-118025975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139362721	chr7:118026031-118026032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192989799	chr7:118026034-118026035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs67727942	chr7:118026064-118026065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201481194	chr7:118026076-118026077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs5000271	chr7:118026089-118026090	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs538230067	chr7:118026149-118026150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182660865	chr7:118026151-118026152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547117555	chr7:118026164-118026165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550937390	chr7:118026232-118026233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149627792	chr7:118026233-118026234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538165622	chr7:118026268-118026269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556414412	chr7:118026284-118026285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4260839	chr7:118026285-118026286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs75673895	chr7:118026327-118026328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118018400-118018800	Enhancers	Fetal Stomach	stomach
2	chr7:118025600-118026000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:118025600-118026000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:118026000-118027400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:118026000-118027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:118027000-118027800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:118027400-118028000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:118043000-118043200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:118043000-118043200	Enhancers	Pancreas	Pancrea
10	chr7:118043000-118043200	Enhancers	Right Ventricle	heart
11	chr7:118072800-118073000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:118072800-118073000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:118072800-118073400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:118073000-118073400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:118073200-118073400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:118073400-118077800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:118075200-118076200	ZNF genes & repeats	Pancreas	Pancrea
18	chr7:118093000-118093400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links