Variant report

Variant	rs2228595
Chromosome Location	chr7:86415987-86415988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr7:86415886-86416055	K562	blood:	n/a	n/a
2	MYC	chr7:86415925-86416135	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:86415798-86416206	MCF-7	breast:	n/a	n/a
4	POLR2A	chr7:86415785-86416154	MCF-7	breast:	n/a	n/a
5	MYC	chr7:86415963-86416090	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:86415945-86415995	NB4	blood:	n/a
2	chr7:86415945-86415995	PrEC	prostate:	n/a
3	chr7:86415945-86415995	A549	lung:	n/a
4	chr7:86415945-86415995	GM12878	blood:	n/a
5	chr7:86415945-86415995	HAEpiC	amniotic membrane:	n/a
6	chr7:86415945-86415995	AG04449	skin:	fetal
7	chr7:86415945-86415995	PFSK-1	brain:	n/a
8	chr7:86415945-86415995	HRCEpiC	kidney:	n/a
9	chr7:86415945-86415995	HRPEpiC	eye:	n/a
10	chr7:86415945-86415995	NT2-D1	testis:	n/a
11	chr7:86415945-86415995	HCM	heart:	n/a
12	chr7:86415945-86415995	GM06990	blood:	n/a
13	chr7:86415945-86415995	ProgFib	skin:	n/a
14	chr7:86415945-86415995	MCF10A-Er-Src	breast:	n/a
15	chr7:86415945-86415995	HRE	kidney:	n/a
16	chr7:86415945-86415995	Caco-2	colon:	n/a
17	chr7:86415945-86415995	HNPCEpiC	eye:	n/a
18	chr7:86415945-86415995	SAEC	small airway:	n/a
19	chr7:86415945-86415995	HEEpiC	esophagus:	n/a
20	chr7:86415945-86415995	SKMC	muscle:	n/a
21	chr7:86415945-86415995	CMK	blood:	n/a
22	chr7:86415945-86415995	BE2_C	brain:	n/a
23	chr7:86415945-86415995	HUVEC	blood vessel:	n/a
24	chr7:86415945-86415995	RPTEC	kidney:	n/a
25	chr7:86415945-86415995	PANC-1	pancreas:	n/a
26	chr7:86415945-86415995	AG04450	lung:	fetal
27	chr7:86415945-86415995	GM19239	blood:	n/a
28	chr7:86415945-86415995	HMEC	breast:	n/a
29	chr7:86415945-86415995	NHBE	bronchial:	n/a
30	chr7:86415945-86415995	HepG2	liver:	n/a
31	chr7:86415945-86415995	IMR90	lung:	fetal
32	chr7:86415945-86415995	LNCaP	prostate:	n/a
33	chr7:86415945-86415995	HIPEpiC	eye:	n/a
34	chr7:86415945-86415995	AG09319	gingival:	n/a
35	chr7:86415945-86415995	NH-A	brain:	n/a
36	chr7:86415945-86415995	GM12891	blood:	n/a
37	chr7:86415945-86415995	HL-60	blood:	n/a
38	chr7:86415945-86415995	BJ	skin:	n/a
39	chr7:86415945-86415995	GM12892	blood:	n/a
40	chr7:86415945-86415995	ECC-1	luminal epithelium:	n/a
41	chr7:86415945-86415995	HCF	heart:	n/a
42	chr7:86415945-86415995	H1-hESC	embryonic stem cell:	embryo
43	chr7:86415945-86415995	SK-N-SH_RA	brain:	n/a
44	chr7:86415945-86415995	AG10803	skin:	n/a
45	chr7:86415945-86415995	U87	brain:	n/a
46	chr7:86415945-86415995	Hela-S3	cervix:	n/a
47	chr7:86415945-86415995	Hepatocyte	liver:	n/a
48	chr7:86415945-86415995	SK-N-SH	brain:	n/a
49	chr7:86415945-86415995	HEK293	kidney:	embryo
50	chr7:86415945-86415995	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000233073	TF binding region
ENSG00000233073	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17608250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17697415	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831053	chr7:86268171-86440999	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86406400-86416200	Weak transcription	Fetal Heart	heart
2	chr7:86415200-86416000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:86415200-86416200	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:86415200-86416400	Strong transcription	Brain Anterior Caudate	brain
5	chr7:86415400-86416400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:86415400-86416800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:86415600-86416600	Strong transcription	Brain Cingulate Gyrus	brain
8	chr7:86415600-86416600	Strong transcription	Fetal Brain Female	brain
9	chr7:86415600-86416800	Strong transcription	Brain Germinal Matrix	brain
10	chr7:86415600-86416800	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr7:86415600-86417000	Strong transcription	Brain Hippocampus Middle	brain
12	chr7:86415600-86418000	Enhancers	GM12878-XiMat	blood
13	chr7:86415800-86416200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:86415800-86416800	Strong transcription	Brain Substantia Nigra	brain
15	chr7:86415800-86419400	Weak transcription	Brain Angular Gyrus	brain

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