Variant report

Variant	rs35548342
Chromosome Location	chr12:10513006-10513007
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10845111	0.91[EUR][1000 genomes]
rs11053751	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11053766	0.94[EUR][1000 genomes]
rs11053770	0.87[EUR][1000 genomes]
rs11053772	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053775	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304272	0.85[EUR][1000 genomes]
rs28617693	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35752816	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134079	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7137513	0.93[EUR][1000 genomes]
rs7137853	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7304620	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7305635	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062736	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307099	0.81[AMR][1000 genomes];0.93[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10507400-10513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:10507400-10513400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:10507400-10513400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:10507400-10515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:10507600-10513400	Weak transcription	HMEC	breast
6	chr12:10508000-10515200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:10509200-10513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:10509600-10513600	Weak transcription	Fetal Kidney	kidney
9	chr12:10511600-10516400	Weak transcription	Gastric	stomach
10	chr12:10511800-10513400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:10511800-10513400	Weak transcription	Hela-S3	cervix
12	chr12:10511800-10514000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:10511800-10516200	Weak transcription	Thymus	Thymus
14	chr12:10512200-10514000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:10512200-10515200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:10512600-10513400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:10512800-10513200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:10512800-10513400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:10512800-10513400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr12:10512800-10515000	Weak transcription	Primary B cells from cord blood	blood
21	chr12:10512800-10515200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr12:10513000-10513800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr12:10513000-10513800	Enhancers	Brain Hippocampus Middle	brain
24	chr12:10513000-10514200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:10513000-10514800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:10513000-10515600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:10513000-10516400	Enhancers	HUES64 Cell Line	embryonic stem cell

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