Variant report

Variant	rs12705816
Chromosome Location	chr7:111839373-111839374
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	chr7:111836849..111841374-chr7:111842726..111847291,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128512	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10233673	0.80[JPT][hapmap]
rs10266365	0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs10953706	0.87[ASN][1000 genomes]
rs11773464	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs12113634	0.87[JPT][hapmap]
rs12154685	0.81[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs12537746	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12705817	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs2729563	0.81[ASN][1000 genomes]
rs4132325	0.90[ASN][1000 genomes]
rs4464880	0.90[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs4640999	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4727766	0.81[JPT][hapmap]
rs6966390	0.90[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs6974364	0.89[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs6978767	0.81[JPT][hapmap]
rs757195	0.85[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs757196	0.87[CHB][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs7792159	0.88[ASN][1000 genomes]
rs7811283	0.88[ASN][1000 genomes]
rs960348	0.81[JPT][hapmap];0.81[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:48 , 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	chr7:111836600-111839600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:111836600-111840800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:111836600-111843000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:111836600-111843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:111836800-111843000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:111836800-111843000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:111836800-111843800	Weak transcription	Lung	lung
17	chr7:111837600-111841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:111837600-111841800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:111837800-111841200	Enhancers	NHEK	skin
20	chr7:111838000-111842600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:111838200-111839400	Weak transcription	Brain Substantia Nigra	brain
22	chr7:111838200-111840200	Enhancers	HepG2	liver
23	chr7:111838200-111840400	Enhancers	Hela-S3	cervix
24	chr7:111838400-111840000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:111838400-111843000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:111838600-111839600	Weak transcription	Brain Angular Gyrus	brain
27	chr7:111838600-111839800	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:111838600-111839800	Enhancers	HMEC	breast
29	chr7:111838600-111840200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:111838600-111843200	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:111838600-111844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:111838800-111839800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:111838800-111840000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:111838800-111840000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:111838800-111840200	Enhancers	Osteobl	bone
36	chr7:111839000-111839600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:111839000-111839600	Enhancers	NHDF-Ad	bronchial
38	chr7:111839000-111839800	Weak transcription	Brain Anterior Caudate	brain
39	chr7:111839000-111840000	Enhancers	Fetal Lung	lung
40	chr7:111839000-111840200	Enhancers	Liver	Liver
41	chr7:111839000-111840200	Enhancers	NHLF	lung
42	chr7:111839000-111840400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:111839000-111840400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:111839000-111843000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:111839200-111839400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr7:111839200-111839600	Enhancers	HSMM	muscle
47	chr7:111839200-111840000	Flanking Active TSS	A549	lung
48	chr7:111839200-111844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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