Variant report

Variant	rs8081126
Chromosome Location	chr17:16845362-16845363
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	NFATC1	chr17:16844715-16845420	GM12878	blood:	n/a	n/a
2	NFATC1	chr17:16845144-16845436	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:16845221-16849358	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:16845166-16845366	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16826192..16826763-chr17:16845300..16846108,3	MCF-7	breast:
2	chr17:16844584..16846721-chr17:16858506..16861138,2	MCF-7	breast:
3	chr17:16844634..16847567-chr17:17108440..17110491,2	MCF-7	breast:

Variant related genes	Relation type
TNFRSF13B	TF binding region
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1004438	0.83[CHB][hapmap];0.98[ASN][1000 genomes]
rs1004439	0.84[CEU][hapmap]
rs11078356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652811	0.98[EUR][1000 genomes]
rs11652843	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs11654431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656106	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs17793572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343329	0.83[CHD][hapmap]
rs4517836	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs4985724	0.85[CEU][hapmap]
rs4985725	0.85[CEU][hapmap]
rs4985735	0.90[CEU][hapmap]
rs4985783	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs56223325	1.00[ASN][1000 genomes]
rs56936345	1.00[ASN][1000 genomes]
rs58928848	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502540	0.94[EUR][1000 genomes]
rs7209074	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs7216399	0.85[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs7223652	0.80[CEU][hapmap];0.88[TSI][hapmap]
rs8072293	0.89[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs9889948	0.92[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	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv2753951	chr17:16660721-16848750	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2755100	chr17:16660721-16848750	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv833379	chr17:16683585-16859539	Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1055688	chr17:16800788-16868860	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv907726	chr17:16821204-16875636	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv275147	chr17:16845167-16848750	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8081126	LOC96597	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16840800-16847400	Strong transcription	GM12878-XiMat	blood
2	chr17:16841000-16846600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr17:16842400-16846400	Weak transcription	Brain Anterior Caudate	brain
4	chr17:16842600-16849200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:16843800-16848000	Enhancers	Fetal Muscle Leg	muscle
6	chr17:16844200-16846400	Weak transcription	Brain Substantia Nigra	brain
7	chr17:16844200-16847000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:16844200-16848000	Weak transcription	Spleen	Spleen
9	chr17:16844200-16848600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:16844200-16848800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:16844200-16849000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr17:16844200-16849200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:16844200-16852000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:16844400-16848800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:16844400-16848800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr17:16844400-16848800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr17:16844600-16845800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:16844600-16847000	Weak transcription	Primary B cells from cord blood	blood
19	chr17:16844800-16845400	Enhancers	Adipose Nuclei	Adipose
20	chr17:16844800-16846600	Enhancers	Fetal Muscle Trunk	muscle
21	chr17:16844800-16848600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:16844800-16848600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:16845000-16845400	Enhancers	Brain Hippocampus Middle	brain
24	chr17:16845200-16845400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr17:16845200-16846400	Weak transcription	Brain Cingulate Gyrus	brain

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