Variant report

Variant	rs2729533
Chromosome Location	chr7:111836466-111836467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111650607..111652165-chr7:111834201..111836971,2	MCF-7	breast:
2	chr7:111836349..111839066-chr7:111842425..111844306,2	K562	blood:
3	chr7:111827933..111830797-chr7:111833168..111837325,5	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10232440	0.86[ASN][1000 genomes]
rs10233086	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10269050	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10953707	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1154953	0.86[ASN][1000 genomes]
rs17492961	0.90[JPT][hapmap]
rs2107116	0.86[ASN][1000 genomes]
rs2729532	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2729539	0.95[AMR][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	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730522	0.83[ASN][1000 genomes]
rs62473136	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6947391	0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6971586	0.83[ASN][1000 genomes]
rs6971683	0.98[ASN][1000 genomes]
rs6972306	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs757193	0.98[ASN][1000 genomes]
rs7790943	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7792170	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7792614	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7795136	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:111823400-111839000	Weak transcription	Fetal Lung	lung
3	chr7:111826000-111839000	Weak transcription	NHLF	lung
4	chr7:111826000-111842200	Enhancers	HUVEC	blood vessel
5	chr7:111827000-111837000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:111829200-111842600	Weak transcription	Psoas Muscle	Psoas
7	chr7:111831200-111837400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:111831800-111842600	Weak transcription	Right Ventricle	heart
9	chr7:111832000-111842600	Weak transcription	Left Ventricle	heart
10	chr7:111832200-111836600	Enhancers	HepG2	liver
11	chr7:111833000-111839000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:111833400-111838200	Weak transcription	Hela-S3	cervix
13	chr7:111833400-111838600	Weak transcription	A549	lung
14	chr7:111833400-111838800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:111833400-111841400	Weak transcription	NH-A	brain
16	chr7:111834200-111837600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:111834400-111838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:111834600-111837800	Weak transcription	NHEK	skin
19	chr7:111834600-111838600	Weak transcription	HMEC	breast
20	chr7:111835600-111838600	Enhancers	Brain Hippocampus Middle	brain
21	chr7:111835600-111839000	Weak transcription	Liver	Liver
22	chr7:111835800-111836600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:111835800-111838200	Enhancers	Brain Substantia Nigra	brain
24	chr7:111836000-111836600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:111836000-111836600	Enhancers	Brain Anterior Caudate	brain
26	chr7:111836000-111836600	Enhancers	Fetal Brain Female	brain
27	chr7:111836000-111836800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:111836200-111836600	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:111836200-111836600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr7:111836200-111836600	Weak transcription	Lung	lung
31	chr7:111836200-111836800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:111836200-111843000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:111836200-111843000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:111836400-111836800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:111836400-111840800	Weak transcription	Ovary	ovary

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