Variant report

Variant	rs2178830
Chromosome Location	chr8:91162808-91162809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91160123..91162835-chr8:91174934..91176685,2	K562	blood:
2	chr8:91139396..91140972-chr8:91161545..91163760,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10088137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10088826	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10093716	0.80[EUR][1000 genomes]
rs10094625	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10095826	0.95[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]
rs10100369	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10100993	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10107297	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10109405	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10113507	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10216559	0.80[EUR][1000 genomes]
rs1073074	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782032	0.81[CEU][hapmap]
rs11993791	0.80[EUR][1000 genomes]
rs12171665	0.81[CEU][hapmap]
rs1476590	0.80[CEU][hapmap]
rs1554927	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16786	0.80[CEU][hapmap]
rs1805809	0.80[CEU][hapmap]
rs1805833	0.80[CEU][hapmap]
rs1805841	0.80[CEU][hapmap]
rs1805864	0.80[CEU][hapmap]
rs1805870	0.85[CEU][hapmap]
rs1805871	0.95[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs1805874	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2049815	0.82[EUR][1000 genomes]
rs2049816	0.82[EUR][1000 genomes]
rs2063976	0.84[EUR][1000 genomes]
rs2103432	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2103441	0.80[ASN][1000 genomes]
rs2142093	0.87[CEU][hapmap]
rs2142094	0.87[CEU][hapmap]
rs2189261	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2205108	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2293775	0.84[CEU][hapmap]
rs2840205	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3087750	0.85[EUR][1000 genomes]
rs34915823	0.85[EUR][1000 genomes]
rs35044745	0.86[EUR][1000 genomes]
rs3758146	0.95[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs4961165	0.80[CEU][hapmap]
rs4961166	0.81[CEU][hapmap]
rs4961170	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4961171	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470748	0.86[EUR][1000 genomes]
rs6470752	0.80[EUR][1000 genomes]
rs6994668	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7010210	0.80[CEU][hapmap]
rs7010368	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7011734	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7459846	0.82[CEU][hapmap]
rs7831184	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs978953	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv34347	chr8:91101339-91179126	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv470225	chr8:91113616-91229254	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv891184	chr8:91114698-91222654	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv824687	chr8:91144854-91177488	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv35109	chr8:91150726-91226940	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv818643	chr8:91153308-91212148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2178830	NBN	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91158600-91167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:91162800-91163200	Active TSS	Fetal Intestine Small	intestine
3	chr8:91162800-91163600	Active TSS	Fetal Intestine Large	intestine

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