Variant report

Variant	rs10236246
Chromosome Location	chr7:12359386-12359387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12353391..12355072-chr7:12357011..12359494,3	K562	blood:
2	chr7:12351255..12355072-chr7:12355211..12359779,5	K562	blood:
3	chr7:12356830..12359604-chr7:12404989..12406571,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10215270	0.81[EUR][1000 genomes]
rs10225682	0.81[EUR][1000 genomes]
rs10228123	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10231277	0.91[EUR][1000 genomes]
rs10231484	0.86[EUR][1000 genomes]
rs10231577	0.86[EUR][1000 genomes]
rs10233442	0.81[ASN][1000 genomes]
rs10239248	0.86[EUR][1000 genomes]
rs10247702	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10248101	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10253377	0.83[ASN][1000 genomes]
rs10258758	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10258988	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10259332	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10260491	0.86[EUR][1000 genomes]
rs10262994	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10264702	0.81[EUR][1000 genomes]
rs10268302	0.81[EUR][1000 genomes]
rs10268480	0.91[EUR][1000 genomes]
rs10273672	0.86[EUR][1000 genomes]
rs10273729	0.86[EUR][1000 genomes]
rs10274502	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10275284	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10275416	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10277566	0.81[ASN][1000 genomes]
rs1030032	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1079506	0.81[EUR][1000 genomes]
rs1117386	0.81[EUR][1000 genomes]
rs11971213	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11971413	0.81[EUR][1000 genomes]
rs11973540	0.86[EUR][1000 genomes]
rs12699350	0.86[ASN][1000 genomes]
rs13437654	0.81[EUR][1000 genomes]
rs17165803	0.81[EUR][1000 genomes]
rs2017812	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2192840	0.86[EUR][1000 genomes]
rs2216048	0.86[EUR][1000 genomes]
rs28451976	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28564922	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28572024	0.86[EUR][1000 genomes]
rs28608715	0.86[EUR][1000 genomes]
rs28657943	0.86[EUR][1000 genomes]
rs28722991	0.81[EUR][1000 genomes]
rs2883877	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35472397	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35912436	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3899335	0.81[EUR][1000 genomes]
rs3919542	0.86[EUR][1000 genomes]
rs3919543	0.86[EUR][1000 genomes]
rs4141568	0.86[EUR][1000 genomes]
rs4141569	0.86[EUR][1000 genomes]
rs4446631	0.82[EUR][1000 genomes]
rs4446632	0.86[EUR][1000 genomes]
rs4496864	0.86[EUR][1000 genomes]
rs4574747	0.86[EUR][1000 genomes]
rs57694022	0.82[EUR][1000 genomes]
rs59043486	0.91[EUR][1000 genomes]
rs60044930	0.91[EUR][1000 genomes]
rs61054154	0.86[EUR][1000 genomes]
rs6460920	0.81[EUR][1000 genomes]
rs66601708	0.91[EUR][1000 genomes]
rs67593601	0.91[EUR][1000 genomes]
rs68050309	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6944872	0.81[EUR][1000 genomes]
rs6945245	0.81[ASN][1000 genomes]
rs6945381	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6946838	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6948209	0.81[EUR][1000 genomes]
rs6948226	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6948515	0.84[ASN][1000 genomes]
rs6949562	0.83[ASN][1000 genomes]
rs6952078	0.81[ASN][1000 genomes]
rs6959666	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6967342	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6969447	0.84[ASN][1000 genomes]
rs6971849	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6972805	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6976341	0.83[ASN][1000 genomes]
rs6977521	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6977815	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6977943	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72584561	0.91[EUR][1000 genomes]
rs72584562	0.86[EUR][1000 genomes]
rs72584563	0.86[EUR][1000 genomes]
rs72584564	0.86[EUR][1000 genomes]
rs72584567	0.86[EUR][1000 genomes]
rs72584570	0.86[EUR][1000 genomes]
rs72584572	0.86[EUR][1000 genomes]
rs72584573	0.86[EUR][1000 genomes]
rs72584574	0.86[EUR][1000 genomes]
rs72584575	0.86[EUR][1000 genomes]
rs72584593	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72586705	0.81[EUR][1000 genomes]
rs72586714	0.81[EUR][1000 genomes]
rs7776877	0.83[ASN][1000 genomes]
rs7795892	0.83[ASN][1000 genomes]
rs7800111	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7804012	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7808979	0.83[ASN][1000 genomes]
rs918018	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9768757	0.86[EUR][1000 genomes]
rs984568	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12339600-12360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:12351000-12367600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:12352200-12360600	Weak transcription	K562	blood
4	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:12354800-12364800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:12358000-12361800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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