Variant report

Variant	rs7215558
Chromosome Location	chr17:19919864-19919865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19919845-19919895	HMEC	breast:	n/a
2	chr17:19919845-19919895	HL-60	blood:	n/a
3	chr17:19919845-19919895	NT2-D1	testis:	n/a
4	chr17:19919845-19919895	HCPEpiC	choroid plexus:	n/a
5	chr17:19919845-19919895	GM12891	blood:	n/a
6	chr17:19919845-19919895	PFSK-1	brain:	n/a
7	chr17:19919845-19919895	NHBE	bronchial:	n/a
8	chr17:19919845-19919895	HCT-116	colon:	n/a
9	chr17:19919845-19919895	GM12878	blood:	n/a
10	chr17:19919845-19919895	BJ	skin:	n/a
11	chr17:19919845-19919895	H1-hESC	embryonic stem cell:	embryo
12	chr17:19919845-19919895	PANC-1	pancreas:	n/a
13	chr17:19919845-19919895	NHDF-neo	bronchial:	n/a
14	chr17:19919845-19919895	HIPEpiC	eye:	n/a
15	chr17:19919845-19919895	SKMC	muscle:	n/a
16	chr17:19919845-19919895	HUVEC	blood vessel:	n/a
17	chr17:19919845-19919895	SAEC	small airway:	n/a
18	chr17:19919845-19919895	AG09309	skin:	n/a
19	chr17:19919845-19919895	HPAEpiC	pulmonary alveolar:	n/a
20	chr17:19919845-19919895	Jurkat	blood:	n/a
21	chr17:19919845-19919895	A549	lung:	n/a
22	chr17:19919845-19919895	HRE	kidney:	n/a
23	chr17:19919845-19919895	U87	brain:	n/a
24	chr17:19919845-19919895	MCF10A-Er-Src	breast:	n/a
25	chr17:19919845-19919895	BE2_C	brain:	n/a
26	chr17:19919845-19919895	AG10803	skin:	n/a
27	chr17:19919845-19919895	HepG2	liver:	n/a
28	chr17:19919845-19919895	AG04450	lung:	fetal
29	chr17:19919845-19919895	SK-N-MC	brain:	n/a
30	chr17:19919845-19919895	NH-A	brain:	n/a
31	chr17:19919845-19919895	Hepatocyte	liver:	n/a
32	chr17:19919845-19919895	HCF	heart:	n/a
33	chr17:19919845-19919895	K562	blood:	n/a
34	chr17:19919845-19919895	HEK293	kidney:	embryo
35	chr17:19919845-19919895	LNCaP	prostate:	n/a
36	chr17:19919845-19919895	GM12892	blood:	n/a
37	chr17:19919845-19919895	RPTEC	kidney:	n/a
38	chr17:19919845-19919895	NB4	blood:	n/a
39	chr17:19919845-19919895	SK-N-SH	brain:	n/a
40	chr17:19919845-19919895	Caco-2	colon:	n/a
41	chr17:19919845-19919895	HCM	heart:	n/a
42	chr17:19919845-19919895	GM06990	blood:	n/a
43	chr17:19919845-19919895	HAEpiC	amniotic membrane:	n/a
44	chr17:19919845-19919895	HRCEpiC	kidney:	n/a
45	chr17:19919845-19919895	SK-N-SH_RA	brain:	n/a
46	chr17:19919845-19919895	IMR90	lung:	fetal
47	chr17:19919845-19919895	Hela-S3	cervix:	n/a
48	chr17:19919845-19919895	ProgFib	skin:	n/a
49	chr17:19919845-19919895	MCF-7	breast:	n/a
50	chr17:19919845-19919895	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19911578..19915566-chr17:19916147..19920228,5	K562	blood:

No data

Variant related genes	Relation type
SPECC1	CpG island
ENSG00000128487	Chromatin interaction
ENSG00000261033	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs56178618	0.86[AFR][1000 genomes]
rs57127528	1.00[AMR][1000 genomes]
rs57853272	0.86[AFR][1000 genomes]
rs58334454	1.00[AMR][1000 genomes]
rs58338147	1.00[AMR][1000 genomes]
rs58524683	0.86[AFR][1000 genomes]
rs58748150	1.00[AMR][1000 genomes]
rs59704385	0.84[AFR][1000 genomes]
rs60321315	1.00[AMR][1000 genomes]
rs60740483	1.00[AMR][1000 genomes]
rs7221750	0.86[AFR][1000 genomes]
rs7225930	1.00[AMR][1000 genomes]
rs73980725	0.81[AFR][1000 genomes]
rs73980727	0.84[AFR][1000 genomes]
rs73980759	0.84[AFR][1000 genomes]
rs73980761	0.86[AFR][1000 genomes]
rs73980764	0.86[AFR][1000 genomes]
rs73980785	0.86[AFR][1000 genomes]
rs73980787	0.86[AFR][1000 genomes]
rs73980789	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980790	1.00[AMR][1000 genomes]
rs73980791	1.00[AMR][1000 genomes]
rs73980793	1.00[AMR][1000 genomes]
rs73980794	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980795	1.00[AMR][1000 genomes]
rs73980797	1.00[AMR][1000 genomes]
rs73981806	1.00[AMR][1000 genomes]
rs73981808	1.00[AMR][1000 genomes]
rs73981810	1.00[AMR][1000 genomes]
rs73984562	1.00[AMR][1000 genomes]
rs73984563	1.00[AMR][1000 genomes]
rs8064839	0.84[AFR][1000 genomes]
rs8066256	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8073950	0.81[AFR][1000 genomes]
rs8082216	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19913800-19921200	Weak transcription	Aorta	Aorta
2	chr17:19914200-19925000	Weak transcription	Adipose Nuclei	Adipose
3	chr17:19914600-19920000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:19914600-19920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:19914600-19920600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:19914600-19920800	Weak transcription	Brain Anterior Caudate	brain
7	chr17:19914600-19922000	Weak transcription	Brain Angular Gyrus	brain
8	chr17:19914600-19928000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:19914600-19938400	Weak transcription	Brain Hippocampus Middle	brain
10	chr17:19918000-19920200	Weak transcription	A549	lung
11	chr17:19918000-19922000	Weak transcription	K562	blood
12	chr17:19918800-19921200	Weak transcription	Ovary	ovary
13	chr17:19919400-19920200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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