Variant report

Variant	rs4530922
Chromosome Location	chr7:16451370-16451371
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	chr7:16447322..16450777-chr7:16450983..16453871,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10224376	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10230422	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10243957	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10243958	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10249194	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10252363	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10256679	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10261299	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263566	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10265000	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273509	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11972185	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11973206	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17169450	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17169467	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17169469	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2178600	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2389637	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4351323	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4637711	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57864877	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58419085	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6960236	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73291276	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73291285	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73308411	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73308428	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7350036	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7778635	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7793920	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7801162	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9886310	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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 target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757215	chr7:16346139-16458474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1031019	chr7:16377519-16458474	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach
2	chr7:16440200-16452600	Weak transcription	Pancreas	Pancrea
3	chr7:16440400-16452400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:16440400-16452600	Weak transcription	Gastric	stomach
5	chr7:16440400-16459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:16443400-16451800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:16443400-16452400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:16443600-16456400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:16449600-16451600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:16450000-16459600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:16450200-16453000	Enhancers	NHDF-Ad	bronchial
12	chr7:16450600-16452200	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:16450600-16459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:16450800-16451400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:16450800-16451800	Weak transcription	Fetal Lung	lung
16	chr7:16450800-16452400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:16450800-16453200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:16451000-16452200	Weak transcription	Fetal Stomach	stomach
19	chr7:16451000-16452400	Weak transcription	K562	blood
20	chr7:16451000-16452600	Weak transcription	Left Ventricle	heart

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