Variant report

Variant	rs2817694
Chromosome Location	chr10:98866522-98866523
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	chr10:98865480..98867358-chr10:98868311..98871144,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1336259	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1490689	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1490690	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1490691	0.80[ASW][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2006739	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2484879	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs2636776	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636784	0.92[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2636786	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2636787	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2636796	0.81[CHB][hapmap]
rs2636813	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2636817	0.96[CEU][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2784938	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2817689	0.97[LWK][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2817690	0.85[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2817691	0.80[ASW][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.82[TSI][hapmap];0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2817693	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[LWK][hapmap];0.80[MEX][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2817701	0.92[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2817703	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2817705	0.81[EUR][1000 genomes]
rs2817709	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2817711	0.80[MEX][hapmap]
rs2817713	0.80[MEX][hapmap]
rs3000213	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs902473	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs902474	0.96[CEU][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs902475	0.80[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs931451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv2758236	chr10:98789963-98962472	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2759777	chr10:98789963-98962472	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1037576	chr10:98791099-98873649	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1039568	chr10:98800844-98868329	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1040262	chr10:98805336-98872134	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv895913	chr10:98854410-98884402	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2817694	CWF19L1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98841200-98869200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:98857000-98869200	Weak transcription	Thymus	Thymus
3	chr10:98857200-98869000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:98858800-98867000	Strong transcription	Fetal Thymus	thymus
5	chr10:98861600-98869200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr10:98863200-98869000	Weak transcription	Fetal Brain Female	brain
7	chr10:98863200-98876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:98863400-98870000	Weak transcription	Brain Anterior Caudate	brain
9	chr10:98863800-98866600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:98863800-98866600	Weak transcription	Brain Germinal Matrix	brain
11	chr10:98863800-98869000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:98864000-98867200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:98864600-98869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:98866000-98867600	Enhancers	Fetal Lung	lung
15	chr10:98866400-98866800	Bivalent Enhancer	Fetal Stomach	stomach
16	chr10:98866400-98866800	Enhancers	Left Ventricle	heart

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