Variant report

Variant	rs531800171
Chromosome Location	chr7:105163782-105163783
allele	A/G
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:9)
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	CMK	blood:	n/a
2	chr7:105163736-105163786	SK-N-MC	brain:	n/a
3	chr7:105163736-105163786	HUVEC	blood vessel:	n/a
4	chr7:105163736-105163786	ProgFib	skin:	n/a
5	chr7:105163736-105163786	HEEpiC	esophagus:	n/a
6	chr7:105163736-105163786	HMEC	breast:	n/a
7	chr7:105163736-105163786	Hela-S3	cervix:	n/a
8	chr7:105163736-105163786	NT2-D1	testis:	n/a
9	chr7:105163736-105163786	T-47D	breast:	n/a
10	chr7:105163736-105163786	Hepatocyte	liver:	n/a
11	chr7:105163736-105163786	MCF-7	breast:	n/a
12	chr7:105163736-105163786	K562	blood:	n/a
13	chr7:105163736-105163786	GM06990	blood:	n/a
14	chr7:105163736-105163786	HRCEpiC	kidney:	n/a
15	chr7:105163736-105163786	Caco-2	colon:	n/a
16	chr7:105163736-105163786	GM12892	blood:	n/a
17	chr7:105163736-105163786	HRPEpiC	eye:	n/a
18	chr7:105163736-105163786	ECC-1	luminal epithelium:	n/a
19	chr7:105163736-105163786	NHBE	bronchial:	n/a
20	chr7:105163736-105163786	HL-60	blood:	n/a
21	chr7:105163736-105163786	HIPEpiC	eye:	n/a
22	chr7:105163736-105163786	NH-A	brain:	n/a
23	chr7:105163736-105163786	NHDF-neo	bronchial:	n/a
24	chr7:105163736-105163786	HRE	kidney:	n/a
25	chr7:105163736-105163786	PrEC	prostate:	n/a
26	chr7:105163736-105163786	LNCaP	prostate:	n/a
27	chr7:105163736-105163786	HCT-116	colon:	n/a
28	chr7:105163736-105163786	PFSK-1	brain:	n/a
29	chr7:105163736-105163786	GM19239	blood:	n/a
30	chr7:105163736-105163786	NB4	blood:	n/a
31	chr7:105163736-105163786	HEK293	kidney:	embryo
32	chr7:105163736-105163786	GM12891	blood:	n/a
33	chr7:105163736-105163786	SK-N-SH_RA	brain:	n/a
34	chr7:105163736-105163786	H1-hESC	embryonic stem cell:	embryo
35	chr7:105163736-105163786	HPAEpiC	pulmonary alveolar:	n/a
36	chr7:105163736-105163786	U87	brain:	n/a
37	chr7:105163736-105163786	Jurkat	blood:	n/a
38	chr7:105163736-105163786	MCF10A-Er-Src	breast:	n/a
39	chr7:105163736-105163786	RPTEC	kidney:	n/a
40	chr7:105163736-105163786	HepG2	liver:	n/a
41	chr7:105163736-105163786	AG09309	skin:	n/a
42	chr7:105163736-105163786	AG10803	skin:	n/a
43	chr7:105163736-105163786	HCPEpiC	choroid plexus:	n/a
44	chr7:105163736-105163786	HCF	heart:	n/a
45	chr7:105163736-105163786	AoSMC	blood vessel:	n/a
46	chr7:105163736-105163786	IMR90	lung:	fetal
47	chr7:105163736-105163786	A549	lung:	n/a
48	chr7:105163736-105163786	BJ	skin:	n/a
49	chr7:105163736-105163786	HNPCEpiC	eye:	n/a
50	chr7:105163736-105163786	GM12878	blood:	n/a

(count:9 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
PUS7	TF binding region
PUS7	CpG island
ENSG00000185055	Chromatin interaction
ENSG00000223886	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000135249	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	esv1793037	chr7:105137305-105167132	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
18	nsv8197	chr7:105160920-105166965	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
19	esv3442564	chr7:105163586-105163932	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105163200-105165200	Weak transcription	Primary B cells from cord blood	blood
2	chr7:105163200-105167800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:105163200-105171800	Weak transcription	Thymus	Thymus
4	chr7:105163400-105163800	Enhancers	Fetal Muscle Trunk	muscle
5	chr7:105163400-105163800	Enhancers	K562	blood
6	chr7:105163400-105165200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:105163400-105165400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:105163400-105167600	Weak transcription	A549	lung
9	chr7:105163400-105171600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:105163600-105163800	Enhancers	HepG2	liver
11	chr7:105163600-105165200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:105163600-105165400	Weak transcription	GM12878-XiMat	blood

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