Variant report

Variant	rs2183284
Chromosome Location	chr13:30926730-30926731
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	chr13:30916021..30918034-chr13:30924838..30926822,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1275179	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1275180	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1275181	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1291150	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13378210	0.81[CEU][hapmap]
rs1621497	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1754937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17589894	0.81[EUR][1000 genomes]
rs200507	0.83[ASN][1000 genomes]
rs200508	0.83[ASN][1000 genomes]
rs200509	0.83[ASN][1000 genomes]
rs202102	0.80[TSI][hapmap]
rs202103	0.83[ASN][1000 genomes]
rs202108	0.82[ASN][1000 genomes]
rs2077011	0.84[CEU][hapmap];0.86[GIH][hapmap]
rs2149852	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149853	0.88[CEU][hapmap];0.98[EUR][1000 genomes]
rs2152945	0.89[EUR][1000 genomes]
rs2185008	0.88[CEU][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs2388536	0.98[EUR][1000 genomes]
rs55825913	0.80[EUR][1000 genomes]
rs595756	0.83[ASN][1000 genomes]
rs657160	0.83[ASN][1000 genomes]
rs7997259	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578163	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578165	0.90[EUR][1000 genomes]
rs9579558	0.92[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv455853	chr13:30911531-30951514	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv561394	chr13:30911531-30951514	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2183284	RASL11A	cis	parietal	SCAN
rs2183284	N4BP2L1	cis	parietal	SCAN
rs2183284	N4BP2L2	cis	cerebellum	SCAN
rs2183284	KATNAL1	cis	cerebellum	SCAN
rs2183284	RNF6	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30917000-30926800	Weak transcription	Aorta	Aorta
2	chr13:30920600-30929400	Weak transcription	Spleen	Spleen
3	chr13:30921400-30927200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr13:30921400-30928600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:30922200-30928800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr13:30922200-30937800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr13:30922800-30926800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:30922800-30928400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr13:30923200-30927200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:30924600-30940000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:30925400-30927000	Enhancers	Thymus	Thymus
12	chr13:30925800-30927000	Enhancers	Dnd41	blood
13	chr13:30926000-30926800	Enhancers	Primary B cells from cord blood	blood
14	chr13:30926000-30927000	Enhancers	Primary B cells from peripheral blood	blood
15	chr13:30926400-30927800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr13:30926600-30926800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:30926600-30927400	ZNF genes & repeats	Fetal Thymus	thymus

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