Variant report

Variant	rs2729532
Chromosome Location	chr7:111840271-111840272
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	chr7:111839777..111843367-chr7:111843500..111847155,4	K562	blood:
2	chr7:111836849..111841374-chr7:111842726..111847291,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128512	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10232440	0.86[ASN][1000 genomes]
rs10233086	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10269050	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10953707	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1154953	0.86[ASN][1000 genomes]
rs2107116	0.86[ASN][1000 genomes]
rs2729533	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2729539	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2729557	0.86[ASN][1000 genomes]
rs2729559	0.86[ASN][1000 genomes]
rs4727765	0.83[ASN][1000 genomes]
rs4730513	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4730522	0.83[ASN][1000 genomes]
rs62473136	0.83[ASN][1000 genomes]
rs6947391	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6971586	0.83[ASN][1000 genomes]
rs6971683	0.98[ASN][1000 genomes]
rs6972306	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs757193	0.98[ASN][1000 genomes]
rs7790943	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7792170	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7792614	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7795136	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7810513	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:111826000-111842200	Enhancers	HUVEC	blood vessel
3	chr7:111829200-111842600	Weak transcription	Psoas Muscle	Psoas
4	chr7:111831800-111842600	Weak transcription	Right Ventricle	heart
5	chr7:111832000-111842600	Weak transcription	Left Ventricle	heart
6	chr7:111833400-111841400	Weak transcription	NH-A	brain
7	chr7:111836200-111843000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:111836200-111843000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:111836400-111840800	Weak transcription	Ovary	ovary
10	chr7:111836600-111840800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:111836600-111843000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:111836600-111843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:111836800-111843000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:111836800-111843000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:111836800-111843800	Weak transcription	Lung	lung
16	chr7:111837600-111841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:111837600-111841800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:111837800-111841200	Enhancers	NHEK	skin
19	chr7:111838000-111842600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:111838200-111840400	Enhancers	Hela-S3	cervix
21	chr7:111838400-111843000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:111838600-111843200	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:111838600-111844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:111839000-111840400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:111839000-111840400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr7:111839000-111843000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:111839200-111844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:111839400-111841400	Enhancers	Brain Substantia Nigra	brain
29	chr7:111839600-111840800	Weak transcription	NHDF-Ad	bronchial
30	chr7:111839600-111841200	Enhancers	Brain Cingulate Gyrus	brain
31	chr7:111839600-111842800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:111839600-111844000	Weak transcription	HSMM	muscle
33	chr7:111839800-111840400	Enhancers	Brain Hippocampus Middle	brain
34	chr7:111839800-111841200	Weak transcription	HMEC	breast
35	chr7:111839800-111843800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:111840000-111841000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:111840000-111841200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:111840000-111841600	Enhancers	A549	lung
39	chr7:111840000-111842600	Weak transcription	Fetal Lung	lung
40	chr7:111840000-111843800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:111840200-111841200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:111840200-111842200	Weak transcription	HepG2	liver
43	chr7:111840200-111842400	Weak transcription	Liver	Liver
44	chr7:111840200-111842400	Weak transcription	Brain Angular Gyrus	brain
45	chr7:111840200-111842600	Weak transcription	Brain Anterior Caudate	brain
46	chr7:111840200-111842800	Weak transcription	NHLF	lung
47	chr7:111840200-111843800	Weak transcription	Osteobl	bone

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