Variant report

Variant	rs7734985
Chromosome Location	chr5:95428684-95428685
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	chr5:95295987..95299495-chr5:95427071..95430521,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10056771	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10079268	0.86[EUR][1000 genomes]
rs10085034	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11740207	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11949461	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11951463	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs11956456	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11960219	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13155375	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13172783	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13172805	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13186419	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2067498	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4077350	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4128178	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs4270717	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4367316	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4416625	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4479864	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4513721	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4869256	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs4869258	0.84[EUR][1000 genomes]
rs4869259	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4869260	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4869264	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4869266	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4998057	0.84[EUR][1000 genomes]
rs6556899	0.84[EUR][1000 genomes]
rs66683317	0.84[EUR][1000 genomes]
rs6866723	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs6873504	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6879658	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6879847	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6884999	0.84[EUR][1000 genomes]
rs6886983	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6889697	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6894768	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6895121	0.85[EUR][1000 genomes]
rs6895146	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7341111	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700425	0.85[EUR][1000 genomes]
rs7702346	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7702646	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7710337	0.85[EUR][1000 genomes]
rs7715650	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7734224	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314164	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9314165	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][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	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
7	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
IgG glycosylation	23382691	GWAS catalog

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95415400-95429000	Weak transcription	HSMMtube	muscle
2	chr5:95417000-95429200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:95417200-95429000	Weak transcription	Left Ventricle	heart
4	chr5:95418200-95430800	Weak transcription	Esophagus	oesophagus
5	chr5:95419200-95437400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:95421600-95428800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:95421600-95428800	Weak transcription	Stomach Mucosa	stomach
8	chr5:95421600-95429000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:95421600-95429000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:95424400-95429000	Weak transcription	HSMM	muscle
11	chr5:95424400-95429200	Weak transcription	Liver	Liver
12	chr5:95424600-95429200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:95425800-95429800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:95426000-95429000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:95426200-95429000	Weak transcription	Pancreas	Pancrea
16	chr5:95426200-95429200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:95426200-95430400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:95426200-95431800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:95426600-95429000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:95426600-95429000	Weak transcription	Aorta	Aorta
21	chr5:95426600-95429000	Weak transcription	A549	lung
22	chr5:95426600-95432000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:95426600-95432200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:95426800-95428800	Weak transcription	HepG2	liver
25	chr5:95426800-95429800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:95426800-95430600	Weak transcription	Fetal Intestine Small	intestine
27	chr5:95427800-95432800	Enhancers	NHEK	skin
28	chr5:95428200-95429400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:95428400-95432400	Enhancers	Hela-S3	cervix
30	chr5:95428600-95432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:95428600-95432600	Enhancers	HMEC	breast

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