Variant report

Variant	nsv889190
Chromosome Location	chr7:126841090-126856057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:126842391-126842503	GM13977	blood:	n/a	n/a
2	ELK1	chr7:126848170-126848179	Hela-S3	cervix:	n/a	n/a
3	EP300	chr7:126852975-126853000	K562	blood:	n/a	n/a
4	FOXA1	chr7:126844824-126845062	T-47D	breast:	n/a	n/a
5	GATA3	chr7:126853620-126853992	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:126844319-126844327	SH-SY5Y	brain:	n/a	n/a
7	IRF1	chr7:126855427-126855713	K562	blood:	n/a	n/a
8	JUN	chr7:126842745-126842944	K562	blood:	n/a	n/a
9	MAZ	chr7:126849984-126850305	HepG2	liver:	n/a	n/a
10	MXI1	chr7:126853371-126853479	K562	blood:	n/a	n/a
11	NFIC	chr7:126847314-126847720	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr7:126849541-126849565	K562	blood:	n/a	n/a
13	POLR2A	chr7:126841733-126841805	MCF10A-Er-Src	breast:	n/a	n/a
14	RFX5	chr7:126852066-126852205	K562	blood:	n/a	n/a
15	RFX5	chr7:126855695-126855727	GM12878	blood:	n/a	n/a
16	STAT3	chr7:126853432-126853611	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr7:126850130-126850292	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:126854672-126854722	SAEC	small airway:	n/a
2	chr7:126854672-126854722	HPAEpiC	pulmonary alveolar:	n/a
3	chr7:126854672-126854722	RPTEC	kidney:	n/a
4	chr7:126854672-126854722	NHDF-neo	bronchial:	n/a
5	chr7:126854672-126854722	AG10803	skin:	n/a
6	chr7:126854672-126854722	ECC-1	luminal epithelium:	n/a
7	chr7:126854672-126854722	NH-A	brain:	n/a
8	chr7:126854672-126854722	PANC-1	pancreas:	n/a
9	chr7:126854672-126854722	SK-N-SH_RA	brain:	n/a
10	chr7:126854672-126854722	HRCEpiC	kidney:	n/a
11	chr7:126854672-126854722	AG04449	skin:	fetal
12	chr7:126854672-126854722	CMK	blood:	n/a
13	chr7:126854672-126854722	PrEC	prostate:	n/a
14	chr7:126854672-126854722	AG04450	lung:	fetal
15	chr7:126854672-126854722	HNPCEpiC	eye:	n/a
16	chr7:126854672-126854722	NHBE	bronchial:	n/a
17	chr7:126854672-126854722	HCPEpiC	choroid plexus:	n/a
18	chr7:126854672-126854722	HEK293	kidney:	embryo
19	chr7:126854672-126854722	Hela-S3	cervix:	n/a
20	chr7:126854672-126854722	MCF10A-Er-Src	breast:	n/a
21	chr7:126854672-126854722	HUVEC	blood vessel:	n/a
22	chr7:126854672-126854722	HAEpiC	amniotic membrane:	n/a
23	chr7:126854672-126854722	HRE	kidney:	n/a
24	chr7:126854672-126854722	HL-60	blood:	n/a
25	chr7:126854672-126854722	T-47D	breast:	n/a
26	chr7:126854672-126854722	GM06990	blood:	n/a
27	chr7:126854672-126854722	AG09319	gingival:	n/a
28	chr7:126854672-126854722	HRPEpiC	eye:	n/a
29	chr7:126854672-126854722	H1-hESC	embryonic stem cell:	embryo
30	chr7:126854672-126854722	BJ	skin:	n/a
31	chr7:126854672-126854722	ProgFib	skin:	n/a
32	chr7:126854672-126854722	AG09309	skin:	n/a
33	chr7:126854672-126854722	MCF-7	breast:	n/a
34	chr7:126854672-126854722	HMEC	breast:	n/a
35	chr7:126854672-126854722	LNCaP	prostate:	n/a
36	chr7:126854672-126854722	NT2-D1	testis:	n/a
37	chr7:126854672-126854722	Hepatocyte	liver:	n/a
38	chr7:126854672-126854722	SKMC	muscle:	n/a
39	chr7:126854672-126854722	GM12892	blood:	n/a
40	chr7:126854672-126854722	IMR90	lung:	fetal
41	chr7:126854672-126854722	Jurkat	blood:	n/a
42	chr7:126854672-126854722	BE2_C	brain:	n/a
43	chr7:126854672-126854722	GM12891	blood:	n/a
44	chr7:126854672-126854722	NB4	blood:	n/a
45	chr7:126854672-126854722	PFSK-1	brain:	n/a
46	chr7:126854672-126854722	HCF	heart:	n/a
47	chr7:126854672-126854722	Caco-2	colon:	n/a
48	chr7:126854672-126854722	SK-N-MC	brain:	n/a
49	chr7:126854672-126854722	HCT-116	colon:	n/a
50	chr7:126854672-126854722	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:126841412..126842988-chr7:126847997..126850796,2	K562	blood:
2	chr7:126842484..126844799-chr7:126846564..126849446,2	K562	blood:
3	chr7:126841412..126842988-chr7:126847997..126850796,2	K562	blood:
4	chr7:126844024..126846766-chr7:126858329..126861025,2	K562	blood:
5	chr7:126828890..126831389-chr7:126845053..126847311,2	K562	blood:
6	chr7:126842484..126844799-chr7:126846564..126849446,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-3	chr7:126855181-126855307	ENSG00000236340.1
2	lnc-ARF5-3	chr7:126855181-126855307	NR_110195
3	lnc-ARF5-3	chr7:126855181-126855307	ENSG00000236340.1

No data

Variant related genes	Relation type
ENSG00000236340	TF binding region
ENSG00000236340	CpG island

Extended variants
information (count: 273 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181621942	chr7:126846853-126846854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184392765	chr7:126846885-126846886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116155056	chr7:126846907-126846908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369258713	chr7:126846916-126846917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs886003	chr7:126847016-126847017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs188752041	chr7:126847039-126847040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs886004	chr7:126847044-126847045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs547397476	chr7:126847056-126847057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181356555	chr7:126847063-126847064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17867068	chr7:126847064-126847065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536149777	chr7:126847140-126847141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557319784	chr7:126847185-126847186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575800372	chr7:126847187-126847188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538097863	chr7:126847289-126847290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186445585	chr7:126847324-126847325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6965293	chr7:126847343-126847344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540653874	chr7:126847349-126847350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558913794	chr7:126847367-126847368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199563300	chr7:126847368-126847369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10267465	chr7:126847371-126847372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542109061	chr7:126847390-126847391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563395215	chr7:126847468-126847469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373404430	chr7:126847469-126847470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190940316	chr7:126847502-126847503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150281945	chr7:126847505-126847506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528577991	chr7:126847509-126847510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17861418	chr7:126847532-126847533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78518044	chr7:126847547-126847548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370857515	chr7:126847579-126847580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535437052	chr7:126847582-126847583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17866546	chr7:126847612-126847613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557646045	chr7:126847635-126847636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28947795	chr7:126847661-126847662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569415675	chr7:126847687-126847688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377573326	chr7:126847720-126847721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370140061	chr7:126847758-126847759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148989674	chr7:126847768-126847769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143771673	chr7:126847776-126847777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180877676	chr7:126847778-126847779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138391963	chr7:126847906-126847907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187186799	chr7:126847917-126847918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17866228	chr7:126847933-126847934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192129259	chr7:126847946-126847947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17864157	chr7:126848094-126848095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs10239234	chr7:126848106-126848107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182940674	chr7:126848119-126848120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528646333	chr7:126848177-126848178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201657929	chr7:126848182-126848183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547120155	chr7:126848211-126848212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562125911	chr7:126848237-126848238	Weak transcription Enhancers	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
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
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	20808228	CNVD
Prostate cancer	22341455	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126846800-126847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:126847200-126849600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:126847600-126849000	Enhancers	Pancreas	Pancrea
4	chr7:126849000-126849200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:126849200-126850200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:126849600-126850000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:126850000-126852000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:126850200-126851000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:126852000-126852200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:126854800-126855800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:126855000-126856000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:126855200-126855600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:126855200-126855600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:126855200-126855800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:126855400-126855600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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