Variant report

Variant	rs4730316
Chromosome Location	chr7:108067755-108067756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108066488..108068801-chr7:108095390..108097145,2	MCF-7	breast:
2	chr7:108066256..108068604-chr7:108069393..108073824,4	K562	blood:
3	chr7:108067231..108072750-chr7:108078077..108081806,4	K562	blood:
4	chr7:108067165..108069852-chr7:108070201..108071749,2	MCF-7	breast:
5	chr7:108013080..108015754-chr7:108065360..108068339,2	MCF-7	breast:
6	chr7:108066612..108068536-chr7:108068946..108071866,2	K562	blood:
7	chr7:108066199..108068396-chr7:108077458..108079892,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10235291	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10239916	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10240397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10241916	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10241941	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264851	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264905	1.00[CEU][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10278718	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280579	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1116335	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12705468	0.83[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1558037	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1558039	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2158849	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2160555	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2395964	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2395996	1.00[CEU][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2395997	1.00[CEU][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2395998	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2395999	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4727711	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730310	1.00[CEU][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730312	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4730314	1.00[CEU][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730315	1.00[CEU][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730317	1.00[CEU][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6466227	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6466228	1.00[CEU][hapmap];0.80[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6466229	1.00[CEU][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6466230	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6466231	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6466232	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6944286	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6948610	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6973727	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6975183	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7780552	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7782059	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7787736	1.00[CEU][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7788503	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7792379	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7799296	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9656149	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs970660	0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108056800-108071000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:108057600-108069000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:108058800-108071200	Weak transcription	Pancreas	Pancrea
4	chr7:108059800-108073400	Weak transcription	Fetal Brain Female	brain
5	chr7:108063200-108070400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:108064000-108068000	Weak transcription	HUVEC	blood vessel
7	chr7:108065000-108070000	Enhancers	A549	lung
8	chr7:108065000-108071000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:108066400-108068200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:108067000-108068000	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:108067000-108069600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:108067000-108071000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:108067200-108070800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:108067400-108067800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:108067400-108067800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:108067400-108069400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:108067400-108071200	Weak transcription	HMEC	breast
18	chr7:108067600-108081000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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