Variant report

Variant	rs4764422
Chromosome Location	chr12:10507378-10507379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10506746..10508549-chr12:10514255..10516412,2	K562	blood:

Variant related genes	Relation type
ENSG00000245648	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10734826	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10734827	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10734828	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743885	1.00[ASN][1000 genomes]
rs10772263	0.91[ASN][1000 genomes]
rs10772264	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772265	0.91[ASN][1000 genomes]
rs10772266	0.87[ASN][1000 genomes]
rs10772268	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10845119	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs10845121	0.89[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs11053764	0.91[ASN][1000 genomes]
rs11053767	0.91[ASN][1000 genomes]
rs11053768	0.91[ASN][1000 genomes]
rs11053771	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs2045882	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2045883	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35220714	0.91[ASN][1000 genomes]
rs4764423	1.00[ASN][1000 genomes]
rs6488282	0.91[ASN][1000 genomes]
rs6488283	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488284	1.00[ASN][1000 genomes]
rs72656635	0.91[ASN][1000 genomes]
rs7957070	1.00[ASN][1000 genomes]
rs7960051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10506800-10507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr12:10506800-10507400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr12:10506800-10507400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:10506800-10508000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:10506800-10508000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:10506800-10508200	Enhancers	Hela-S3	cervix
7	chr12:10507000-10507400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr12:10507000-10507400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:10507000-10507400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:10507000-10507400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:10507000-10507400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:10507000-10507400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:10507000-10507400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:10507000-10507400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:10507000-10507400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:10507000-10507400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:10507000-10507400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:10507000-10507400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:10507000-10507400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:10507000-10507400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:10507000-10507400	Enhancers	HSMM	muscle
22	chr12:10507000-10507600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:10507200-10507400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:10507200-10507400	Enhancers	HMEC	breast
25	chr12:10507200-10513000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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