Variant report

Variant	rs11848463
Chromosome Location	chr14:66257294-66257295
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	chr14:66249714..66253526-chr14:66254626..66258176,3	MCF-7	breast:
2	chr14:66221986..66224383-chr14:66256586..66258647,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1075566	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11158611	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11622829	0.81[CEU][hapmap]
rs11624104	0.81[CEU][hapmap]
rs11625362	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11625882	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11627067	0.81[CEU][hapmap]
rs11627184	0.81[CEU][hapmap]
rs11627185	0.81[CEU][hapmap]
rs11627578	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11627605	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11628840	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11848443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848444	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850120	0.85[CEU][hapmap]
rs12050182	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12050231	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12588838	0.81[CEU][hapmap]
rs12887957	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12890902	0.81[CEU][hapmap]
rs12894034	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12894466	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1535173	0.81[CEU][hapmap]
rs1998036	0.81[CEU][hapmap]
rs2064694	0.81[CEU][hapmap]
rs2268961	0.81[CEU][hapmap]
rs2268962	0.81[CEU][hapmap]
rs2300865	0.81[CEU][hapmap]
rs2411351	0.81[CEU][hapmap]
rs2411404	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2411405	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28459012	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28616692	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3783709	0.81[CEU][hapmap]
rs4073415	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4073416	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4439682	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4902415	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4902416	0.84[EUR][1000 genomes]
rs56720460	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56922569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59636756	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988977	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61988978	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6573626	0.83[EUR][1000 genomes]
rs7142018	0.80[EUR][1000 genomes]
rs7142165	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7142219	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7142651	0.81[CEU][hapmap]
rs7149301	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7151846	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7157449	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs730807	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs743084	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs743085	0.85[CEU][hapmap]
rs761831	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8010876	0.80[CEU][hapmap]
rs8018278	0.81[CEU][hapmap]
rs8022764	0.83[AMR][1000 genomes]
rs927004	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv1052389	chr14:66255781-66321562	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11848463	SYT16	cis	cerebellum	SCAN
rs11848463	FUT8	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66256200-66257400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:66256400-66258200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:66256400-66258200	Weak transcription	Spleen	Spleen
4	chr14:66256400-66259200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:66256600-66257600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:66256600-66257600	Enhancers	Brain Germinal Matrix	brain
7	chr14:66256600-66260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:66256800-66258200	Weak transcription	Fetal Lung	lung
9	chr14:66257000-66257400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr14:66257000-66257400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:66257000-66257600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:66257200-66257400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:66257200-66258600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:66257200-66259400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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