Variant report

Variant	rs303511
Chromosome Location	chr10:90462716-90462717
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	chr10:90145294..90146833-chr10:90461618..90463490,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1214458	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1653840	1.00[JPT][hapmap]
rs303494	1.00[JPT][hapmap]
rs303497	1.00[JPT][hapmap]
rs7073822	0.84[ASN][1000 genomes]
rs814636	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948664	chr10:90076715-90517150	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv430254	chr10:90265420-90500520	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1044680	chr10:90316066-90466092	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv540740	chr10:90316066-90466092	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv831941	chr10:90410488-90587332	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs303511	SLC16A9	trans	cerebellum	SCAN
rs303511	IDE	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90462200-90463000	Enhancers	Fetal Intestine Large	intestine
2	chr10:90462200-90463200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr10:90462200-90463600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr10:90462200-90463600	Enhancers	Fetal Intestine Small	intestine
5	chr10:90462200-90463600	Enhancers	HMEC	breast
6	chr10:90462200-90463600	Enhancers	HUVEC	blood vessel
7	chr10:90462200-90464000	Enhancers	Hela-S3	cervix
8	chr10:90462400-90462800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr10:90462400-90462800	Enhancers	A549	lung
10	chr10:90462400-90463200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr10:90462600-90462800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:90462600-90463000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:90462600-90463000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:90462600-90463400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr10:90462600-90463400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:90462600-90463400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr10:90462600-90463400	Enhancers	Duodenum Mucosa	Duodenum
18	chr10:90462600-90463400	Enhancers	Stomach Mucosa	stomach
19	chr10:90462600-90463400	Enhancers	HSMM	muscle
20	chr10:90462600-90463600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr10:90462600-90463600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr10:90462600-90463600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:90462600-90463600	Enhancers	HepG2	liver
24	chr10:90462600-90463600	Enhancers	NH-A	brain
25	chr10:90462600-90463600	Enhancers	NHEK	skin

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