Variant report

Variant	rs10247855
Chromosome Location	chr7:100541818-100541819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100540893..100542602-chr7:100549623..100552320,2	K562	blood:
2	chr7:100532273..100534632-chr7:100540353..100542746,2	K562	blood:
3	chr7:100472631..100474215-chr7:100540513..100542514,2	K562	blood:
4	chr7:100541427..100545433-chr7:100545850..100548662,4	MCF-7	breast:
5	chr7:100527296..100529594-chr7:100538655..100542451,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228273	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000169894	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10261229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17162518	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17228602	1.00[LWK][hapmap]
rs17228616	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1799805	1.00[ASN][1000 genomes]
rs2075671	1.00[LWK][hapmap]
rs2904852	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34840477	1.00[ASN][1000 genomes]
rs4236546	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364565	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4448204	1.00[ASN][1000 genomes]
rs4574778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640994	1.00[AMR][1000 genomes]
rs4729626	0.90[EUR][1000 genomes]
rs55833792	1.00[ASN][1000 genomes]
rs56194187	1.00[ASN][1000 genomes]
rs56966144	1.00[ASN][1000 genomes]
rs57322794	1.00[ASN][1000 genomes]
rs58194245	1.00[ASN][1000 genomes]
rs6465778	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71557210	1.00[ASN][1000 genomes]
rs7636	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7787389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801190	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7808329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7811415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv427795	chr7:100525848-100554827	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv437026	chr7:100533822-100610772	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	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	chr7:100534200-100543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:100539800-100542000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:100540400-100542000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:100540400-100546800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:100541000-100546800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:100541600-100542000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr7:100541600-100542000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:100541800-100542000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:100541800-100542000	ZNF genes & repeats	Right Atrium	heart
10	chr7:100541800-100544000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:100541800-100544400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:100541800-100546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:100541800-100546800	Weak transcription	H9 Cell Line	embryonic stem cell

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