Variant report

Variant	rs61996721
Chromosome Location	chr14:104061352-104061353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10134399	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10140410	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10143293	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149249	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11621777	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624505	0.80[EUR][1000 genomes]
rs11626658	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274268	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2274269	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28513222	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28514618	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28660416	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28744517	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55864158	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56017123	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57218990	0.80[AFR][1000 genomes]
rs57447494	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58133129	0.80[EUR][1000 genomes]
rs59281218	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60802358	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61996716	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61996717	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68087451	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7142883	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154587	0.89[EUR][1000 genomes]
rs7154948	0.90[EUR][1000 genomes]
rs7693	0.90[EUR][1000 genomes]
rs8003090	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018979	0.80[EUR][1000 genomes]
rs942863	0.90[EUR][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	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription 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 miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs61996721	BAG5	cis	multi-tissue	Pritchard
rs61996721	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs61996721	APOPT1	cis	Muscle Skeletal	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104030800-104073200	Weak transcription	Small Intestine	intestine
2	chr14:104041000-104063200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104045600-104067200	Weak transcription	Primary B cells from cord blood	blood
4	chr14:104045800-104064200	Weak transcription	Hela-S3	cervix
5	chr14:104055800-104067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:104055800-104073000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:104056800-104064000	Weak transcription	A549	lung
8	chr14:104057000-104070800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:104057200-104061600	Weak transcription	Esophagus	oesophagus
10	chr14:104057400-104061600	Weak transcription	NHLF	lung
11	chr14:104057400-104062000	Weak transcription	Thymus	Thymus
12	chr14:104057600-104061400	Weak transcription	Fetal Lung	lung
13	chr14:104057600-104063600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:104057600-104063800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:104057600-104064000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:104057600-104064200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:104057600-104064200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:104057600-104064400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:104057600-104073400	Weak transcription	Primary T cells from cord blood	blood
20	chr14:104057800-104061800	Weak transcription	Gastric	stomach
21	chr14:104057800-104062400	Weak transcription	Aorta	Aorta
22	chr14:104057800-104063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:104057800-104064200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:104057800-104064200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:104057800-104064200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:104057800-104064200	Weak transcription	Osteobl	bone
27	chr14:104057800-104073200	Weak transcription	Fetal Intestine Large	intestine
28	chr14:104057800-104073200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:104057800-104073400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:104057800-104073400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:104058000-104073400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:104058200-104061600	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:104059200-104062000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr14:104059400-104061800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:104059400-104062000	Enhancers	GM12878-XiMat	blood
36	chr14:104059400-104062200	Enhancers	HMEC	breast
37	chr14:104059600-104061800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:104059600-104062200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:104059600-104062400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:104059600-104062800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:104059800-104061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:104059800-104062600	Enhancers	NH-A	brain
43	chr14:104060000-104061600	Enhancers	Fetal Kidney	kidney
44	chr14:104060000-104061800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:104060000-104061800	Enhancers	Adipose Nuclei	Adipose
46	chr14:104060000-104062000	Enhancers	NHEK	skin
47	chr14:104060000-104065000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:104060200-104061800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr14:104060200-104061800	Weak transcription	Fetal Thymus	thymus
50	chr14:104060200-104062000	Enhancers	Left Ventricle	heart

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