Variant report

Variant	rs4844954
Chromosome Location	chr1:210337043-210337044
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	chr1:210336624..210338329-chr1:210405939..210407784,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082497	Chromatin interaction
ENSG00000203706	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11119425	0.87[AFR][1000 genomes]
rs11119427	0.84[AFR][1000 genomes]
rs11119429	0.86[AFR][1000 genomes]
rs12129172	0.84[AFR][1000 genomes]
rs12401646	0.85[AMR][1000 genomes]
rs12750599	0.85[AMR][1000 genomes]
rs1338286	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1413695	0.85[AFR][1000 genomes]
rs17318612	0.95[AMR][1000 genomes]
rs17318744	0.98[AMR][1000 genomes]
rs1933477	0.82[AFR][1000 genomes]
rs2451696	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2451697	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2484030	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2484031	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2484032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.96[AMR][1000 genomes]
rs2485883	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2485884	1.00[ASN][1000 genomes]
rs2485885	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2485891	0.86[AFR][1000 genomes]
rs2485892	0.86[AFR][1000 genomes]
rs2485897	1.00[ASN][1000 genomes]
rs2485898	1.00[ASN][1000 genomes]
rs2494169	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2494170	1.00[ASN][1000 genomes]
rs2494191	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34931444	0.84[ASN][1000 genomes]
rs35256257	0.85[AMR][1000 genomes]
rs61820397	0.85[AMR][1000 genomes]
rs61826848	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6657016	0.84[ASN][1000 genomes]
rs701947	0.81[MKK][hapmap]
rs701948	0.80[MKK][hapmap]
rs7543650	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873144	chr1:210252522-210347417	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv873145	chr1:210302595-210347417	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv468072	chr1:210304319-210338196	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv549104	chr1:210304319-210338196	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv549105	chr1:210304319-210338397	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv873146	chr1:210312760-210347417	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4844954	DIEXF	cis	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210319200-210338400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210329400-210339000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:210333200-210340600	Weak transcription	Brain Cingulate Gyrus	brain

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