Variant report

Variant	rs10511638
Chromosome Location	chr9:18472546-18472547
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	GATA3	chr9:18472537-18473296	SK-N-SH	brain:	n/a	chr9:18472887-18472899 chr9:18472888-18472898 chr9:18472888-18472897 chr9:18472890-18472897 chr9:18472886-18472899 chr9:18472885-18472901
2	GATA3	chr9:18472511-18472634	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ADAMTSL1	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10511655	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511657	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10963615	0.91[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788016	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788507	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789771	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789989	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11792038	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793618	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11794163	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417036	0.91[YRI][hapmap]
rs1538735	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936729	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936798	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205346	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205381	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205520	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205912	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206286	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206601	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206657	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206965	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17207028	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17207294	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17799670	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17801150	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17801409	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832637	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832746	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2153419	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7031222	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs725837	0.89[EUR][1000 genomes]
rs7863523	1.00[CEU][hapmap]
rs7867691	0.83[AFR][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	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18464200-18474400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:18464400-18473000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:18469800-18473000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:18469800-18473000	Weak transcription	Esophagus	oesophagus
5	chr9:18470400-18472600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:18470400-18473000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:18471600-18472600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:18471600-18473000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:18471800-18475800	Enhancers	Hela-S3	cervix
10	chr9:18472200-18473000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:18472200-18473000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:18472200-18473400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:18472200-18473600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:18472200-18473800	Enhancers	NHEK	skin
15	chr9:18472400-18472600	Flanking Active TSS	NHDF-Ad	bronchial
16	chr9:18472400-18472600	Enhancers	NHLF	lung
17	chr9:18472400-18472800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:18472400-18472800	Enhancers	Fetal Heart	heart
19	chr9:18472400-18472800	Active TSS	NH-A	brain
20	chr9:18472400-18473000	Enhancers	HUVEC	blood vessel
21	chr9:18472400-18473200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:18472400-18473200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr9:18472400-18473600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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