Variant report

Variant	rs28558944
Chromosome Location	chr7:127795307-127795308
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10254438	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269842	1.00[ASN][1000 genomes]
rs10447853	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10447854	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10447855	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154534	1.00[ASN][1000 genomes]
rs12533765	1.00[ASN][1000 genomes]
rs12534062	1.00[ASN][1000 genomes]
rs12537331	1.00[ASN][1000 genomes]
rs17151707	1.00[ASN][1000 genomes]
rs17151739	1.00[ASN][1000 genomes]
rs17679136	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17679208	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17735893	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17735958	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28399051	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28541365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28625157	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28692983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56340588	1.00[ASN][1000 genomes]
rs62484024	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484025	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484026	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484029	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484031	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484032	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484033	1.00[ASN][1000 genomes]
rs6962635	1.00[ASN][1000 genomes]
rs6965344	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975863	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226626	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238088	1.00[ASN][1000 genomes]
rs73239704	1.00[ASN][1000 genomes]
rs73239710	1.00[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127788600-127796000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:127789600-127795800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr7:127790600-127803400	Weak transcription	Spleen	Spleen
4	chr7:127791400-127796000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr7:127793800-127796000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:127794000-127795800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:127794000-127796000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:127794200-127795800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:127794200-127796000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:127794200-127796000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:127794400-127795800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:127794400-127796000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:127794400-127796000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:127794400-127796000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:127794600-127795400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:127794600-127796000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr7:127794600-127796000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:127794800-127795600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr7:127794800-127795800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:127794800-127795800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:127794800-127796000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:127795000-127795400	Bivalent Enhancer	HSMMtube	muscle
23	chr7:127795000-127795600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:127795000-127795600	Enhancers	Primary hematopoietic stem cells	blood
25	chr7:127795000-127795800	Enhancers	Brain Anterior Caudate	brain
26	chr7:127795000-127796000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr7:127795200-127795400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:127795200-127795400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:127795200-127795600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:127795200-127795600	Bivalent Enhancer	Fetal Thymus	thymus
31	chr7:127795200-127795600	Enhancers	HSMM	muscle
32	chr7:127795200-127795800	Enhancers	Brain Angular Gyrus	brain
33	chr7:127795200-127795800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:127795200-127796000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:127795200-127796000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr7:127795200-127796000	Bivalent Enhancer	K562	blood

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