Variant report

Variant	rs6467236
Chromosome Location	chr7:128947991-128947992
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	chr7:128947155..128949553-chr7:129248473..129251078,2	K562	blood:

Extended variants
information (count: 56 )
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	0.87[AMR][1000 genomes]
rs10269495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281269	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	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	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]
rs1609043	1.00[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	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	1.00[EUR][1000 genomes]
rs2566882	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	1.00[EUR][1000 genomes]
rs2694577	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694583	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694591	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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718091	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	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	0.97[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	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:4 , 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
4	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128915000-128962600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:128920000-128951600	Weak transcription	Primary T cells from cord blood	blood
3	chr7:128929200-128963800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:128941800-128962600	Weak transcription	Fetal Stomach	stomach
5	chr7:128943800-128961800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:128944200-128963200	Weak transcription	Primary B cells from cord blood	blood
7	chr7:128945000-128954600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:128945000-128963600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:128945400-128954800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:128945600-128966200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:128945800-128949000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:128946400-128948800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:128946400-128948800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:128946400-128949200	Enhancers	HMEC	breast
15	chr7:128946600-128948200	Enhancers	Esophagus	oesophagus
16	chr7:128946600-128948400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:128946600-128948400	Enhancers	Psoas Muscle	Psoas
18	chr7:128946600-128948600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:128946800-128948800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:128946800-128963600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:128947000-128948000	Enhancers	Pancreas	Pancrea
22	chr7:128947000-128948400	Enhancers	Right Ventricle	heart
23	chr7:128947000-128957400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:128947200-128948000	Enhancers	Fetal Muscle Trunk	muscle
25	chr7:128947200-128948200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:128947200-128948200	Enhancers	Placenta	Placenta
27	chr7:128947200-128948400	Enhancers	Liver	Liver
28	chr7:128947200-128948400	Enhancers	Left Ventricle	heart
29	chr7:128947400-128948200	Enhancers	Brain Anterior Caudate	brain
30	chr7:128947400-128948400	Enhancers	Right Atrium	heart
31	chr7:128947600-128948200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:128947600-128948200	Enhancers	Fetal Muscle Leg	muscle
33	chr7:128947600-128948200	Enhancers	Ovary	ovary
34	chr7:128947600-128948400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:128947600-128948800	Enhancers	Adipose Nuclei	Adipose
36	chr7:128947800-128948000	Enhancers	Stomach Smooth Muscle	stomach
37	chr7:128947800-128948200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:128947800-128948200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:128947800-128948200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:128947800-128948200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:128947800-128948200	Enhancers	Brain Substantia Nigra	brain
42	chr7:128947800-128948200	Enhancers	Fetal Heart	heart
43	chr7:128947800-128948200	Enhancers	HSMMtube	muscle
44	chr7:128947800-128948400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:128947800-128948400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:128947800-128948400	Enhancers	Hela-S3	cervix
47	chr7:128947800-128948600	Flanking Active TSS	NHEK	skin

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