Variant report

Variant	rs11570451
Chromosome Location	chr17:45266163-45266164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45256968..45259015-chr17:45265544..45267226,2	MCF-7	breast:
2	chr17:45264972..45267284-chr17:45403808..45405423,2	K562	blood:
3	chr17:45247336..45250133-chr17:45265157..45267526,3	MCF-7	breast:
4	chr17:45264884..45268790-chr17:45285196..45288860,4	K562	blood:
5	chr17:45264174..45269379-chr17:45283146..45288200,6	K562	blood:
6	chr17:45260373..45262889-chr17:45263866..45266203,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178852	Chromatin interaction
ENSG00000198336	Chromatin interaction
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11079759	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079761	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570487	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570506	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570520	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570529	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570543	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11570562	1.00[ASN][1000 genomes]
rs11570568	1.00[ASN][1000 genomes]
rs11570570	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11869591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs12937083	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12937292	1.00[ASN][1000 genomes]
rs12939917	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12941464	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947008	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947898	1.00[ASN][1000 genomes]
rs12948241	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12950715	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515753	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941640	0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040602	1.00[ASN][1000 genomes]
rs2317378	1.00[ASN][1000 genomes]
rs34006043	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735768	1.00[ASN][1000 genomes]
rs34885810	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536045	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751916	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59581991	1.00[ASN][1000 genomes]
rs66518624	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66976195	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551364	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67777457	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71375393	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71375401	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823426	1.00[ASN][1000 genomes]
rs731790	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7502265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3438623	chr17:45249255-45266618	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv8330	chr17:45249307-45266621	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3374428	chr17:45249343-45266580	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3373405	chr17:45258905-45266622	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3414401	chr17:45258915-45266609	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3522393	chr17:45258921-45266590	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3522394	chr17:45258921-45266590	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3392762	chr17:45258946-45266562	Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3314731	chr17:45258949-45266545	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3314732	chr17:45258949-45266545	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3397910	chr17:45258965-45266531	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv4785	chr17:45258973-45266557	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv4323	chr17:45258973-45266558	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv3416394	chr17:45259161-45266566	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11570451	SLC5A3	trans	brain	seeQTL
rs11570451	DDX6	trans	brain	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45264400-45266400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr17:45264600-45266400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:45264600-45266400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:45264600-45266400	Active TSS	A549	lung
5	chr17:45264600-45266400	Active TSS	K562	blood
6	chr17:45264600-45266400	Active TSS	NHLF	lung
7	chr17:45264600-45267200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:45264600-45267200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:45264800-45266400	Active TSS	Psoas Muscle	Psoas
10	chr17:45264800-45266400	Active TSS	Hela-S3	cervix
11	chr17:45264800-45266400	Active TSS	HSMM	muscle
12	chr17:45264800-45267200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:45265000-45266400	Active TSS	GM12878-XiMat	blood
14	chr17:45265000-45267200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:45265200-45266400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:45265200-45266400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr17:45265200-45266400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr17:45265200-45266400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:45265200-45266400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr17:45265200-45266400	Active TSS	Brain Hippocampus Middle	brain
21	chr17:45265200-45266400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr17:45265200-45266400	Active TSS	Fetal Muscle Leg	muscle
23	chr17:45265200-45266400	Active TSS	Fetal Stomach	stomach
24	chr17:45265200-45266400	Active TSS	Stomach Smooth Muscle	stomach
25	chr17:45265200-45266400	Active TSS	HMEC	breast
26	chr17:45265200-45266400	Active TSS	NHDF-Ad	bronchial
27	chr17:45265200-45266400	Active TSS	NHEK	skin
28	chr17:45265200-45267200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:45265200-45267400	Active TSS	Muscle Satellite Cultured Cells	--
30	chr17:45265200-45267400	Active TSS	Brain Germinal Matrix	brain
31	chr17:45265200-45267400	Active TSS	Fetal Brain Female	brain
32	chr17:45265400-45266200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:45265400-45266400	Active TSS	H1 Cell Line	embryonic stem cell
34	chr17:45265400-45266400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr17:45265400-45266400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr17:45265400-45266400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr17:45265400-45266400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr17:45265400-45266400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr17:45265400-45266400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:45265400-45266400	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr17:45265400-45266400	Active TSS	Brain Angular Gyrus	brain
42	chr17:45265400-45266400	Active TSS	Brain Anterior Caudate	brain
43	chr17:45265400-45266400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr17:45265400-45266400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr17:45265400-45266400	Active TSS	Fetal Intestine Large	intestine
46	chr17:45265400-45266400	Active TSS	Right Atrium	heart
47	chr17:45265400-45266400	Active TSS	Right Ventricle	heart
48	chr17:45265400-45266400	Active TSS	Thymus	Thymus
49	chr17:45265400-45266400	Active TSS	HUVEC	blood vessel
50	chr17:45265400-45266400	Active TSS	NH-A	brain

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