Variant report

Variant	rs2839968
Chromosome Location	chr11:58937717-58937718
allele	C/T
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	MXI1	chr11:58937576-58937768	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58937186..58939247-chr11:58980596..58982199,2	K562	blood:
2	chr11:58343237..58345881-chr11:58936566..58939542,2	K562	blood:
3	chr11:58911158..58913877-chr11:58937423..58939058,2	K562	blood:

Variant related genes	Relation type
DTX4	TF binding region
ENSG00000110031	Chromatin interaction
ENSG00000166801	Chromatin interaction
ENSG00000263999	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10128635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10128647	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10128661	0.84[AFR][1000 genomes]
rs10128699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10437720	0.89[CEU][hapmap]
rs10792219	0.95[CEU][hapmap]
rs10792222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10792223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10792224	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10792225	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10792226	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896922	0.95[CEU][hapmap]
rs10896924	0.93[CEU][hapmap]
rs10896925	0.89[CEU][hapmap]
rs10896926	0.95[CEU][hapmap]
rs10896928	0.88[CEU][hapmap]
rs10896931	0.95[CEU][hapmap];0.89[YRI][hapmap]
rs10896940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896947	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229798	0.94[CEU][hapmap]
rs11229799	0.83[CEU][hapmap]
rs11229800	0.94[CEU][hapmap]
rs11229837	0.95[CEU][hapmap]
rs11229840	0.89[CEU][hapmap]
rs11229849	0.89[CEU][hapmap]
rs11229861	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12271831	0.95[CEU][hapmap]
rs12274008	0.85[LWK][hapmap];0.89[YRI][hapmap]
rs12275487	0.88[YRI][hapmap]
rs12278163	0.88[YRI][hapmap]
rs12280068	0.89[YRI][hapmap]
rs12286883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12291322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12293649	0.85[LWK][hapmap];0.89[YRI][hapmap]
rs12796683	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12799145	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1938781	0.89[CEU][hapmap]
rs2096586	0.89[AFR][1000 genomes]
rs2096587	0.89[AFR][1000 genomes]
rs2154629	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938910	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55657403	0.89[AFR][1000 genomes]
rs55989038	0.89[AFR][1000 genomes]
rs56239606	0.89[AFR][1000 genomes]
rs73476933	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933787	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58931200-58938800	Weak transcription	Primary B cells from cord blood	blood
2	chr11:58934800-58939000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:58936400-58937800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:58936800-58937800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:58937000-58937800	Enhancers	HMEC	breast
6	chr11:58937000-58937800	Enhancers	NHEK	skin
7	chr11:58937600-58937800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:58937600-58937800	Enhancers	GM12878-XiMat	blood
9	chr11:58937600-58938600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:58937600-58939000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:58937600-58939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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