Variant report

Variant	rs1514305
Chromosome Location	chr4:128424502-128424503
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11929869	1.00[AMR][1000 genomes]
rs11931600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11933107	1.00[AMR][1000 genomes]
rs11933179	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11934177	1.00[AMR][1000 genomes]
rs11934725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11939438	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11941076	1.00[AMR][1000 genomes]
rs11946082	1.00[AMR][1000 genomes]
rs16997972	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012450	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1015564	chr4:128394657-128506962	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017325	chr4:128408370-128509276	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv595387	chr4:128410916-128523964	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1514305	SATB1	trans	lymphoblastoid	seeQTL
rs1514305	FHL1	trans	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128422000-128424800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:128422000-128424800	Enhancers	NHDF-Ad	bronchial
3	chr4:128422000-128426000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:128422600-128426400	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:128422600-128426400	Weak transcription	K562	blood
6	chr4:128422600-128427000	Weak transcription	Left Ventricle	heart
7	chr4:128422600-128427000	Weak transcription	Ovary	ovary
8	chr4:128422600-128427000	Weak transcription	Right Ventricle	heart
9	chr4:128422600-128427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:128422800-128425800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:128422800-128426200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:128422800-128426400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:128422800-128428600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:128423400-128424600	Enhancers	Fetal Lung	lung
15	chr4:128423400-128424800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:128423400-128425000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:128423400-128425000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:128423600-128424800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:128423600-128424800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:128423600-128424800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:128423600-128424800	Enhancers	NHLF	lung
22	chr4:128423600-128426200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:128423800-128424600	Enhancers	NH-A	brain
24	chr4:128423800-128424800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:128424000-128424600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:128424000-128424800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:128424000-128424800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:128424000-128426400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:128424200-128425000	Enhancers	Fetal Heart	heart
30	chr4:128424400-128424800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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