Variant report

Variant	rs2729539
Chromosome Location	chr7:111833713-111833714
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	chr7:111827933..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	0.84[ASN][1000 genomes]
rs10233086	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10269050	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10953707	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1154953	0.84[ASN][1000 genomes]
rs17492961	0.90[JPT][hapmap]
rs2107116	0.84[ASN][1000 genomes]
rs2729532	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2729533	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2729557	0.84[ASN][1000 genomes]
rs2729559	0.84[ASN][1000 genomes]
rs4727765	0.81[ASN][1000 genomes]
rs4730513	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4730522	0.81[ASN][1000 genomes]
rs62473136	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6947391	0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6971586	0.81[ASN][1000 genomes]
rs6971683	0.96[ASN][1000 genomes]
rs6972306	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs757193	0.96[ASN][1000 genomes]
rs7790943	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7792170	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7792614	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7795136	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7810513	0.82[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111814000-111836000	Weak transcription	Fetal Brain Female	brain
2	chr7:111817400-111835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:111823400-111839000	Weak transcription	Fetal Lung	lung
5	chr7:111826000-111839000	Weak transcription	NHLF	lung
6	chr7:111826000-111842200	Enhancers	HUVEC	blood vessel
7	chr7:111827000-111837000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:111827800-111835600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:111829200-111842600	Weak transcription	Psoas Muscle	Psoas
10	chr7:111830000-111834600	Enhancers	NHEK	skin
11	chr7:111830200-111834200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:111830200-111834600	Enhancers	HMEC	breast
13	chr7:111831200-111833800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:111831200-111837400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:111831600-111833800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:111831800-111833800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:111831800-111835800	Weak transcription	Brain Substantia Nigra	brain
18	chr7:111831800-111836000	Weak transcription	Brain Anterior Caudate	brain
19	chr7:111831800-111836200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:111831800-111842600	Weak transcription	Right Ventricle	heart
21	chr7:111832000-111835200	Weak transcription	Ovary	ovary
22	chr7:111832000-111842600	Weak transcription	Left Ventricle	heart
23	chr7:111832200-111836600	Enhancers	HepG2	liver
24	chr7:111832800-111833800	Enhancers	Brain Hippocampus Middle	brain
25	chr7:111833000-111836200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:111833000-111839000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:111833400-111834000	Enhancers	Lung	lung
28	chr7:111833400-111838200	Weak transcription	Hela-S3	cervix
29	chr7:111833400-111838600	Weak transcription	A549	lung
30	chr7:111833400-111838800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:111833400-111841400	Weak transcription	NH-A	brain
32	chr7:111833600-111834200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:111833600-111835600	Enhancers	Liver	Liver

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