Variant report

Variant	rs9375551
Chromosome Location	chr6:128516061-128516062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1012049	0.85[ASN][1000 genomes]
rs10485160	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11961542	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12055654	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1543376	0.86[ASN][1000 genomes]
rs17055441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055472	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17055477	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076572	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3813371	0.94[ASN][1000 genomes]
rs3813372	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813373	0.94[ASN][1000 genomes]
rs4140541	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4243494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421217	0.96[ASN][1000 genomes]
rs4897252	0.91[ASN][1000 genomes]
rs61583694	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6928143	0.83[ASN][1000 genomes]
rs6930547	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6933029	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938118	0.96[ASN][1000 genomes]
rs730202	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73590673	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs742736	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7753945	0.96[ASN][1000 genomes]
rs7755836	0.87[ASN][1000 genomes]
rs7773849	0.87[ASN][1000 genomes]
rs9321113	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9372885	0.81[EUR][1000 genomes]
rs9372886	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375550	0.90[ASN][1000 genomes]
rs9375552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375553	0.84[ASN][1000 genomes]
rs9375555	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375556	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375557	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375558	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9385455	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9388618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388619	0.96[ASN][1000 genomes]
rs9388621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388623	0.81[ASN][1000 genomes]
rs9388625	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9388626	0.87[ASN][1000 genomes]
rs9388627	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9398864	0.84[ASN][1000 genomes]
rs9398865	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9398866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398868	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9402023	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9402024	0.87[ASN][1000 genomes]
rs9402029	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9402030	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9402032	0.85[ASN][1000 genomes]
rs9784773	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9784880	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv604646	chr6:128421762-128531651	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv604647	chr6:128421762-128547177	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv886651	chr6:128450019-128565778	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv886653	chr6:128455539-128555805	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv886654	chr6:128471938-128555805	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3473317	chr6:128516046-128516816	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128465600-128523200	Weak transcription	Left Ventricle	heart
2	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
3	chr6:128490000-128520200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:128492600-128567800	Weak transcription	Ovary	ovary
5	chr6:128494400-128526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:128495000-128523400	Weak transcription	HSMMtube	muscle
7	chr6:128503200-128541800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:128505800-128523200	Weak transcription	Fetal Thymus	thymus
9	chr6:128505800-128525600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:128505800-128525600	Weak transcription	NHEK	skin
11	chr6:128505800-128538800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:128505800-128552200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:128506000-128523600	Weak transcription	HepG2	liver
14	chr6:128506000-128561000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:128510200-128518800	Weak transcription	Primary B cells from cord blood	blood
16	chr6:128510200-128521000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:128513600-128525600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:128513800-128516400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:128514000-128530600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:128515800-128516200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:128515800-128516800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:128515800-128517000	Enhancers	HMEC	breast
23	chr6:128516000-128524800	Weak transcription	HSMM	muscle
24	chr6:128516000-128530400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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