Variant report

Variant	rs1985436
Chromosome Location	chr1:114469597-114469598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114353086..114356383-chr1:114467552..114475359,15	MCF-7	breast:
2	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:
3	chr1:114437436..114439941-chr1:114469185..114470816,2	MCF-7	breast:
4	chr1:114469554..114476691-chr1:114493097..114498363,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP4B1-1	chr1:114469475-114470444	ENSG00000235527

Variant related genes	Relation type
ENSG00000081019	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000231128	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10108	0.87[ASN][1000 genomes]
rs10494162	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102703	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11102706	0.93[ASN][1000 genomes]
rs11102707	0.86[ASN][1000 genomes]
rs11102708	0.92[ASN][1000 genomes]
rs11102709	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12060750	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12125546	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12127377	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12129050	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217444	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1503832	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1553449	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553450	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17852555	0.91[ASN][1000 genomes]
rs1910485	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1985435	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41302825	0.91[ASN][1000 genomes]
rs6537800	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6669370	0.91[ASN][1000 genomes]
rs6674384	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7519860	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7545300	0.91[ASN][1000 genomes]
rs7546851	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs756493	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs878129	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats 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	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1985436	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114449800-114470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:114456200-114470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:114456200-114470600	Weak transcription	Brain Substantia Nigra	brain
4	chr1:114456200-114471200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:114456400-114470400	Weak transcription	HSMM	muscle
6	chr1:114457200-114470600	Weak transcription	Primary T cells from cord blood	blood
7	chr1:114457600-114470400	Weak transcription	Fetal Thymus	thymus
8	chr1:114459200-114470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:114467000-114470400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:114467200-114470400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:114469400-114470200	Weak transcription	K562	blood
12	chr1:114469400-114470400	Weak transcription	HepG2	liver

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