Variant report

Variant	rs1861311
Chromosome Location	chr7:12341939-12341940
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12248340..12250610-chr7:12341759..12344659,2	K562	blood:
2	chr7:12249110..12251929-chr7:12341759..12344024,2	K562	blood:

Variant related genes	Relation type
ENSG00000106460	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1011813	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10155958	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10225444	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10232196	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10234877	0.95[ASN][1000 genomes]
rs10254029	0.95[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs10258470	0.95[ASN][1000 genomes]
rs10258717	0.95[ASN][1000 genomes]
rs10259100	0.93[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10275154	0.96[ASN][1000 genomes]
rs10278941	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10280443	0.96[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10282726	0.93[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10434998	0.89[ASN][1000 genomes]
rs1155631	0.90[ASN][1000 genomes]
rs12673036	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs17149915	0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17165850	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2098364	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2192837	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2216046	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253353	0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2356162	0.92[ASN][1000 genomes]
rs2356167	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2883866	0.92[ASN][1000 genomes]
rs34130399	0.87[ASN][1000 genomes]
rs3815532	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3902479	0.92[ASN][1000 genomes]
rs4236269	0.92[ASN][1000 genomes]
rs4301352	0.89[ASN][1000 genomes]
rs4554369	0.89[ASN][1000 genomes]
rs4719307	0.89[CEU][hapmap];0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs4721071	0.91[ASN][1000 genomes]
rs4721072	0.92[ASN][1000 genomes]
rs4721073	0.94[ASN][1000 genomes]
rs4721074	0.92[ASN][1000 genomes]
rs4721075	0.92[ASN][1000 genomes]
rs4721077	0.92[ASN][1000 genomes]
rs55794302	0.95[ASN][1000 genomes]
rs62451462	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62451463	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62451483	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6460915	0.92[ASN][1000 genomes]
rs6460916	0.92[ASN][1000 genomes]
rs6460917	0.92[ASN][1000 genomes]
rs6947878	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956206	0.91[ASN][1000 genomes]
rs6962273	0.92[ASN][1000 genomes]
rs6962294	0.92[ASN][1000 genomes]
rs6967385	0.85[CEU][hapmap]
rs7790370	0.96[ASN][1000 genomes]
rs7795828	0.96[ASN][1000 genomes]
rs7806138	0.81[ASN][1000 genomes]
rs7808500	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7812164	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs984602	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1033704	chr7:12286225-12355773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12336200-12342400	Weak transcription	HMEC	breast
2	chr7:12337600-12342400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:12338000-12342200	Weak transcription	NHEK	skin
4	chr7:12338400-12359200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:12339600-12360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:12340800-12342000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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