Variant report

Variant	rs12571758
Chromosome Location	chr10:27542474-27542475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:27542424-27542735	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:27542396-27542958	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:27542311-27542828	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27541598..27544629-chr10:27547280..27549749,3	K562	blood:
2	chr10:27541565..27543150-chr10:27544289..27546288,2	K562	blood:
3	chr10:27529474..27534457-chr10:27540904..27545668,8	MCF-7	breast:
4	chr10:27529521..27534854-chr10:27538591..27544292,11	K562	blood:

Variant related genes	Relation type
LRRC37A6P	TF binding region
ENSG00000238021	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000230445	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11015630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015659	1.00[EUR][1000 genomes]
rs12411685	1.00[EUR][1000 genomes]
rs12411697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12412003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12412311	0.89[EUR][1000 genomes]
rs12570662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12570850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12571235	1.00[EUR][1000 genomes]
rs12571257	1.00[EUR][1000 genomes]
rs12571606	1.00[EUR][1000 genomes]
rs12571873	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12572237	0.89[EUR][1000 genomes]
rs12572325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12573138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34640469	1.00[EUR][1000 genomes]
rs34988171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4749227	0.87[EUR][1000 genomes]
rs4749234	1.00[EUR][1000 genomes]
rs56339647	1.00[EUR][1000 genomes]
rs59888463	1.00[EUR][1000 genomes]
rs7915661	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS 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	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr10:27538000-27547200	Weak transcription	Fetal Heart	heart
2	chr10:27541400-27542600	Active TSS	Hela-S3	cervix
3	chr10:27541800-27542600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:27541800-27546800	Weak transcription	HSMMtube	muscle
5	chr10:27542000-27542600	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:27542000-27542600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr10:27542000-27542800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:27542000-27542800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:27542000-27545000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:27542000-27545000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:27542000-27545200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:27542000-27547400	Weak transcription	Right Ventricle	heart
13	chr10:27542000-27547600	Weak transcription	Pancreas	Pancrea
14	chr10:27542200-27542600	Enhancers	Spleen	Spleen
15	chr10:27542200-27542600	Flanking Active TSS	GM12878-XiMat	blood
16	chr10:27542400-27542600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
17	chr10:27542400-27542600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr10:27542400-27542600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr10:27542400-27542600	Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr10:27542400-27542600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr10:27542400-27542600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr10:27542400-27542600	Enhancers	Small Intestine	intestine
23	chr10:27542400-27542600	Enhancers	K562	blood
24	chr10:27542400-27542600	Enhancers	NHEK	skin
25	chr10:27542400-27546200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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