Variant report

Variant	rs10227871
Chromosome Location	chr7:12366459-12366460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12363684..12366465-chr7:12393124..12396040,2	K562	blood:
2	chr7:12362049..12364322-chr7:12365857..12368217,3	K562	blood:
3	chr7:12359587..12361942-chr7:12364993..12366787,2	K562	blood:
4	chr7:12365317..12367228-chr7:12375967..12378342,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10215270	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10225682	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228123	0.84[ASN][1000 genomes]
rs10230889	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10256397	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259305	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10259332	0.81[EUR][1000 genomes]
rs10262667	0.94[ASN][1000 genomes]
rs10264702	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268012	0.81[AMR][1000 genomes]
rs10268302	0.98[ASN][1000 genomes]
rs10268480	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272812	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1030032	0.81[EUR][1000 genomes]
rs1079506	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1117386	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971413	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980307	1.00[ASN][1000 genomes]
rs13437654	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017812	0.81[EUR][1000 genomes]
rs2287067	0.99[ASN][1000 genomes]
rs35612403	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3899335	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460920	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944872	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948209	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6948366	0.99[ASN][1000 genomes]
rs6949574	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6967342	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971849	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972805	0.87[EUR][1000 genomes]
rs72584556	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72584589	0.93[ASN][1000 genomes]
rs72586705	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72586714	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72586729	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800823	0.99[ASN][1000 genomes]
rs984568	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv887629	chr7:12304555-12400837	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019021	chr7:12310445-12375516	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv887630	chr7:12323757-12400837	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1034059	chr7:12342549-12367818	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1029941	chr7:12351595-12444490	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv433030	chr7:12352210-12443042	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1034475	chr7:12352210-12444490	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1029098	chr7:12354108-12443042	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv887631	chr7:12360805-12434771	Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv887632	chr7:12360805-12439672	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr7:12351000-12367600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:12360400-12367600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:12360400-12367800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:12361200-12367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:12361600-12367000	Weak transcription	K562	blood
7	chr7:12363400-12367600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:12363400-12367800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:12363600-12367400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:12363600-12367600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:12363800-12367600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:12363800-12392800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:12364000-12367200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:12364000-12367600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:12366000-12369800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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