Variant report

Variant	esv3442564
Chromosome Location	chr7:105163586-105163932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:105161496-105163914	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:105163736-105163786	HPAEpiC	pulmonary alveolar:	n/a
2	chr7:105163736-105163786	A549	lung:	n/a
3	chr7:105163736-105163786	HIPEpiC	eye:	n/a
4	chr7:105163736-105163786	ECC-1	luminal epithelium:	n/a
5	chr7:105163736-105163786	AG09319	gingival:	n/a
6	chr7:105163736-105163786	NT2-D1	testis:	n/a
7	chr7:105163736-105163786	AG10803	skin:	n/a
8	chr7:105163736-105163786	HRCEpiC	kidney:	n/a
9	chr7:105163736-105163786	SK-N-MC	brain:	n/a
10	chr7:105163736-105163786	IMR90	lung:	fetal
11	chr7:105163736-105163786	HepG2	liver:	n/a
12	chr7:105163736-105163786	GM06990	blood:	n/a
13	chr7:105163736-105163786	HCPEpiC	choroid plexus:	n/a
14	chr7:105163736-105163786	AG04449	skin:	fetal
15	chr7:105163736-105163786	PFSK-1	brain:	n/a
16	chr7:105163736-105163786	SK-N-SH_RA	brain:	n/a
17	chr7:105163736-105163786	HEK293	kidney:	embryo
18	chr7:105163736-105163786	CMK	blood:	n/a
19	chr7:105163736-105163786	NH-A	brain:	n/a
20	chr7:105163736-105163786	Caco-2	colon:	n/a
21	chr7:105163736-105163786	HNPCEpiC	eye:	n/a
22	chr7:105163736-105163786	Hela-S3	cervix:	n/a
23	chr7:105163736-105163786	AoSMC	blood vessel:	n/a
24	chr7:105163736-105163786	HRPEpiC	eye:	n/a
25	chr7:105163736-105163786	ovcar-3	ovarian:	n/a
26	chr7:105163736-105163786	PrEC	prostate:	n/a
27	chr7:105163736-105163786	Jurkat	blood:	n/a
28	chr7:105163736-105163786	GM19239	blood:	n/a
29	chr7:105163736-105163786	MCF10A-Er-Src	breast:	n/a
30	chr7:105163736-105163786	HCM	heart:	n/a
31	chr7:105163736-105163786	U87	brain:	n/a
32	chr7:105163736-105163786	BE2_C	brain:	n/a
33	chr7:105163736-105163786	RPTEC	kidney:	n/a
34	chr7:105163736-105163786	ProgFib	skin:	n/a
35	chr7:105163736-105163786	HL-60	blood:	n/a
36	chr7:105163736-105163786	HRE	kidney:	n/a
37	chr7:105163736-105163786	HEEpiC	esophagus:	n/a
38	chr7:105163736-105163786	HUVEC	blood vessel:	n/a
39	chr7:105163736-105163786	T-47D	breast:	n/a
40	chr7:105163736-105163786	PANC-1	pancreas:	n/a
41	chr7:105163736-105163786	NHDF-neo	bronchial:	n/a
42	chr7:105163736-105163786	NHBE	bronchial:	n/a
43	chr7:105163736-105163786	SKMC	muscle:	n/a
44	chr7:105163736-105163786	LNCaP	prostate:	n/a
45	chr7:105163736-105163786	AG09309	skin:	n/a
46	chr7:105163736-105163786	HAEpiC	amniotic membrane:	n/a
47	chr7:105163736-105163786	GM12891	blood:	n/a
48	chr7:105163736-105163786	H1-hESC	embryonic stem cell:	embryo
49	chr7:105163736-105163786	MCF-7	breast:	n/a
50	chr7:105163736-105163786	GM12892	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:105160687..105164718-chr7:105170642..105174239,14	MCF-7	breast:
2	chr7:105158727..105165017-chr7:105166972..105176993,56	K562	blood:
3	chr7:104653151..104655503-chr7:105160083..105164345,7	K562	blood:
4	chr7:105027746..105030082-chr7:105160759..105163665,5	MCF-7	breast:
5	chr7:105026529..105029377-chr7:105162488..105165118,2	MCF-7	breast:
6	chr7:104653151..104655346-chr7:105160083..105164134,5	K562	blood:
7	chr7:104652163..104655972-chr7:105160292..105163807,4	MCF-7	breast:
8	chr7:105160711..105163604-chr7:105655467..105658687,3	K562	blood:
9	chr7:105159598..105163989-chr7:105219696..105223115,7	MCF-7	breast:
10	chr7:104653054..104655993-chr7:105161169..105164095,3	MCF-7	breast:
11	chr7:105160261..105165362-chr7:105168599..105174293,22	MCF-7	breast:

No data

Variant related genes	Relation type
PUS7	TF binding region
PUS7	CpG island
ENSG00000128536	chromatin interactions
ENSG00000135249	chromatin interactions
ENSG00000185055	chromatin interactions
ENSG00000005483	chromatin interactions
ENSG00000223886	chromatin interactions
ENSG00000239569	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000135250	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544681322	chr7:105163630-105163631	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs55967123	chr7:105163678-105163679	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533129118	chr7:105163690-105163691	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs540617442	chr7:105163696-105163697	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs2697024	chr7:105163702-105163703	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs115609508	chr7:105163716-105163717	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs73190184	chr7:105163736-105163737	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549287805	chr7:105163737-105163738	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs118076623	chr7:105163774-105163775	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs531800171	chr7:105163782-105163783	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs540499181	chr7:105163785-105163786	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs150331379	chr7:105163809-105163810	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs75880756	chr7:105163821-105163822	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs35338061	chr7:105163828-105163829	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs552916114	chr7:105163864-105163865	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs144942369	chr7:105163931-105163932	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	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
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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105162000-105163600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:105163200-105163600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:105163200-105163600	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:105163200-105163600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:105163200-105163600	Enhancers	GM12878-XiMat	blood
6	chr7:105163200-105165200	Weak transcription	Primary B cells from cord blood	blood
7	chr7:105163200-105167800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:105163200-105171800	Weak transcription	Thymus	Thymus
9	chr7:105163400-105163600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:105163400-105163600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:105163400-105163600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:105163400-105163600	Enhancers	Adipose Nuclei	Adipose
13	chr7:105163400-105163600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr7:105163400-105163600	Weak transcription	Spleen	Spleen
15	chr7:105163400-105163600	Flanking Active TSS	HepG2	liver
16	chr7:105163400-105163800	Enhancers	Fetal Muscle Trunk	muscle
17	chr7:105163400-105163800	Enhancers	K562	blood
18	chr7:105163400-105165200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:105163400-105165400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:105163400-105167600	Weak transcription	A549	lung
21	chr7:105163400-105171600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:105163600-105163800	Enhancers	HepG2	liver
23	chr7:105163600-105165200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:105163600-105165400	Weak transcription	GM12878-XiMat	blood

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