Variant report

Variant	rs1509912
Chromosome Location	chr7:80804928-80804929
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:49347675..49348628-chr7:80804583..80805154,2	MCF-7	breast:
2	chr7:80546517..80551479-chr7:80801945..80805775,5	MCF-7	breast:
3	chr7:80546356..80552735-chr7:80798673..80805379,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124171	Chromatin interaction
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1024548	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs10264882	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs11972689	0.95[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11974102	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11975023	0.87[EUR][1000 genomes]
rs11975948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11977048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111861	0.83[EUR][1000 genomes]
rs12666916	0.84[EUR][1000 genomes]
rs13242185	0.86[CEU][hapmap];0.92[EUR][1000 genomes]
rs1397008	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1397009	0.94[EUR][1000 genomes]
rs1397010	0.80[EUR][1000 genomes]
rs1509911	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs1605917	0.92[EUR][1000 genomes]
rs16887017	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs17616148	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs1859678	0.89[EUR][1000 genomes]
rs327703	0.91[CEU][hapmap]
rs327704	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs327705	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs327710	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs34252288	0.84[EUR][1000 genomes]
rs35141375	0.88[EUR][1000 genomes]
rs56034302	0.92[EUR][1000 genomes]
rs62467422	0.93[EUR][1000 genomes]
rs6467590	0.92[EUR][1000 genomes]
rs6967382	0.94[EUR][1000 genomes]
rs6967567	0.94[EUR][1000 genomes]
rs7776566	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7778696	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779992	0.93[EUR][1000 genomes]
rs7788722	0.92[EUR][1000 genomes]
rs7794312	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7794577	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7794595	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795202	0.93[EUR][1000 genomes]
rs7797263	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs7798421	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7802063	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7809013	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7810096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980966	0.95[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80803000-80805200	Enhancers	HSMM	muscle
2	chr7:80803000-80805600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:80803000-80805600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:80803000-80805600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:80803400-80805000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:80803600-80805000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:80803600-80805200	Weak transcription	Stomach Mucosa	stomach
8	chr7:80803600-80805400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:80803600-80810600	Weak transcription	HepG2	liver
10	chr7:80803800-80805000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:80803800-80805200	Enhancers	NH-A	brain
12	chr7:80803800-80819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:80804600-80805000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:80804600-80805000	Flanking Active TSS	HSMMtube	muscle
15	chr7:80804600-80805200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:80804600-80805400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:80804600-80805400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:80804600-80805400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:80804600-80805600	Enhancers	NHLF	lung
20	chr7:80804800-80805000	Active TSS	Fetal Brain Male	brain
21	chr7:80804800-80805200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:80804800-80805200	Enhancers	Fetal Brain Female	brain
23	chr7:80804800-80805200	Flanking Active TSS	A549	lung
24	chr7:80804800-80805400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:80804800-80805400	Enhancers	Fetal Muscle Leg	muscle

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