Variant report

Variant	rs10845120
Chromosome Location	chr12:10511992-10511993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10509675..10512643-chr12:10514341..10517366,3	K562	blood:
2	chr12:10507526..10509637-chr12:10511583..10513205,2	K562	blood:

Variant related genes	Relation type
ENSG00000245648	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10743885	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10772263	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10772265	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10772266	0.90[EUR][1000 genomes]
rs10845119	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11053762	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11053763	0.86[EUR][1000 genomes]
rs11053764	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11053767	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11053768	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11053771	0.91[EUR][1000 genomes]
rs2045883	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35220714	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4335631	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4764423	0.90[EUR][1000 genomes]
rs6488282	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6488284	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72656635	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7957070	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3432683	chr12:10470734-10527581	Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3351751	chr12:10472734-10522269	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10507200-10513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:10507400-10512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:10507400-10512800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:10507400-10513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:10507400-10513400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:10507400-10513400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:10507400-10515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:10507600-10513400	Weak transcription	HMEC	breast
9	chr12:10508000-10515200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:10509200-10513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:10509600-10513600	Weak transcription	Fetal Kidney	kidney
12	chr12:10510200-10512600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:10510400-10512200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:10511400-10512200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:10511600-10512200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:10511600-10512800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:10511600-10516400	Weak transcription	Gastric	stomach
18	chr12:10511800-10512800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:10511800-10513400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:10511800-10513400	Weak transcription	Hela-S3	cervix
21	chr12:10511800-10514000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:10511800-10516200	Weak transcription	Thymus	Thymus

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