Variant report

Variant	rs72895618
Chromosome Location	chr2:67550861-67550862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:67550732-67551117	SK-N-SH_RA	brain:	n/a	n/a
2	TCF12	chr2:67549371-67551187	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr2:67550196-67551219	SK-N-SH	brain:	n/a	chr2:67550934-67550950 chr2:67550937-67550947 chr2:67550938-67550947 chr2:67550938-67550947 chr2:67550936-67550948
4	CTCF	chr2:67549423-67550990	A549	lung:	n/a	chr2:67549964-67549985 chr2:67549971-67549984 chr2:67549976-67549983
5	EP300	chr2:67550247-67551123	SK-N-SH_RA	brain:	n/a	chr2:67550694-67550704
6	RAD21	chr2:67548017-67552070	SK-N-SH	brain:	n/a	chr2:67549967-67549986 chr2:67549668-67549680
7	GATA3	chr2:67550258-67551189	SH-SY5Y	brain:	n/a	chr2:67550934-67550950 chr2:67550937-67550947 chr2:67550938-67550947 chr2:67550938-67550947 chr2:67550936-67550948
8	GATA2	chr2:67549542-67551178	SH-SY5Y	brain:	n/a	chr2:67549696-67549706 chr2:67549690-67549711 chr2:67550934-67550950 chr2:67549697-67549704 chr2:67549697-67549704 chr2:67549697-67549704 chr2:67549693-67549709 chr2:67549697-67549706 chr2:67549693-67549704 chr2:67550937-67550947 chr2:67550938-67550947 chr2:67550938-67550947 chr2:67549811-67549819 chr2:67550936-67550948
9	RAD21	chr2:67550741-67551126	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr2:67550736-67551138	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr2:67549062-67552186	SK-N-SH	brain:	n/a	chr2:67549158-67549172 chr2:67551647-67551661 chr2:67550694-67550704 chr2:67549163-67549177
12	SMC3	chr2:67549356-67551269	SK-N-SH	brain:	n/a	chr2:67549971-67549985
13	CTCF	chr2:67549268-67551067	SK-N-SH	brain:	n/a	chr2:67549964-67549985 chr2:67549971-67549984 chr2:67549976-67549983
14	TCF12	chr2:67550345-67551105	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr2:67550197-67551262	SK-N-SH	brain:	n/a	chr2:67550934-67550950 chr2:67550937-67550947 chr2:67550938-67550947 chr2:67550938-67550947 chr2:67550936-67550948

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67550820..67551820-chr3:100427957..100428561,3	HCT-116	colon:

Variant related genes	Relation type
ENSG00000236605	TF binding region
ENSG00000114354	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1318886	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385154	0.82[ASN][1000 genomes]
rs17033374	0.82[ASN][1000 genomes]
rs28373341	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719169	0.82[ASN][1000 genomes]
rs72895607	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67539000-67551400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:67539200-67551800	Weak transcription	Fetal Kidney	kidney
3	chr2:67546800-67551600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:67546800-67552200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:67547400-67552000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:67547800-67552200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:67547800-67552600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:67548600-67551800	Enhancers	Fetal Lung	lung
9	chr2:67548600-67551800	Enhancers	Fetal Stomach	stomach
10	chr2:67549200-67552000	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:67549800-67551400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:67550000-67551400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:67550000-67551600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:67550000-67551600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:67550000-67551600	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:67550000-67552200	Weak transcription	Pancreas	Pancrea
17	chr2:67550000-67555200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:67550600-67551200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:67550800-67551600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:67550800-67551800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:67550800-67552200	Enhancers	Fetal Heart	heart

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