Variant report

Variant	rs1609043
Chromosome Location	chr7:128946694-128946695
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	chr7:128946459..128948231-chr7:128955623..128958607,2	MCF-7	breast:
2	chr7:128944152..128946842-chr7:128948380..128950541,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10215998	1.00[EUR][1000 genomes]
rs10235589	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249336	0.83[AFR][1000 genomes]
rs10255583	0.89[AFR][1000 genomes]
rs10264209	0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs10269495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281269	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12533108	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13240723	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs1405475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1469554	1.00[EUR][1000 genomes]
rs1526898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1526899	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549788	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1991645	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2052962	0.87[AMR][1000 genomes]
rs2402946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2402947	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2463096	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2566875	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2566881	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs2566882	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2694570	0.85[AFR][1000 genomes]
rs2694575	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694576	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2694577	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694583	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694591	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718090	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718091	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718092	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718097	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718100	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28399138	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28437865	0.87[AMR][1000 genomes]
rs28475451	0.87[AMR][1000 genomes]
rs28864519	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2896414	0.92[AFR][1000 genomes]
rs4731567	1.00[EUR][1000 genomes]
rs6467234	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467239	0.83[AFR][1000 genomes]
rs6949882	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950279	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950496	0.87[AFR][1000 genomes]
rs6970267	0.93[AFR][1000 genomes]
rs71529418	0.93[AFR][1000 genomes]
rs71577870	0.93[AFR][1000 genomes]
rs7805353	0.87[AMR][1000 genomes]
rs9641847	1.00[EUR][1000 genomes]
rs9641848	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128912200-128947000	Weak transcription	Pancreas	Pancrea
2	chr7:128915000-128962600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:128920000-128951600	Weak transcription	Primary T cells from cord blood	blood
4	chr7:128925800-128947600	Weak transcription	Ovary	ovary
5	chr7:128929200-128963800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:128941800-128962600	Weak transcription	Fetal Stomach	stomach
7	chr7:128943200-128947800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:128943800-128961800	Weak transcription	Fetal Intestine Small	intestine
9	chr7:128944200-128963200	Weak transcription	Primary B cells from cord blood	blood
10	chr7:128944400-128947800	Weak transcription	Fetal Heart	heart
11	chr7:128945000-128954600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:128945000-128963600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:128945400-128954800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:128945600-128946800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:128945600-128966200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:128945800-128949000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:128946200-128947400	Weak transcription	Brain Anterior Caudate	brain
18	chr7:128946400-128947000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:128946400-128947000	Enhancers	NHEK	skin
20	chr7:128946400-128948800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:128946400-128948800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:128946400-128949200	Enhancers	HMEC	breast
23	chr7:128946600-128948200	Enhancers	Esophagus	oesophagus
24	chr7:128946600-128948400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:128946600-128948400	Enhancers	Psoas Muscle	Psoas
26	chr7:128946600-128948600	Enhancers	Skeletal Muscle Male	skeletal muscle

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