Variant report

Variant	rs256953
Chromosome Location	chr5:114971938-114971939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:114971756-114972075	GM12878	blood:	n/a	n/a
2	EBF1	chr5:114971471-114972191	GM12878	blood:	n/a	chr5:114971656-114971667 chr5:114972024-114972033

No.	Distal block	Cell Line	Cell type
1	chr5:114971626..114974342-chr5:115178110..115179917,2	K562	blood:
2	chr5:114965121..114972183-chr5:115175398..115178697,8	MCF-7	breast:
3	chr5:114970607..114973250-chr5:114975290..114977621,2	K562	blood:
4	chr5:114969735..114972107-chr5:115165947..115167928,2	MCF-7	breast:
5	chr5:114970607..114974645-chr5:114975238..114977621,3	K562	blood:
6	chr5:114970889..114973875-chr5:114975413..114978406,3	MCF-7	breast:

Variant related genes	Relation type
TMED7	TF binding region
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10055677	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13164545	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13186296	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs171774	0.92[EUR][1000 genomes]
rs2303747	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256941	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs256942	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256944	0.92[EUR][1000 genomes]
rs256945	0.92[EUR][1000 genomes]
rs256947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256948	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256949	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256952	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256954	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256962	0.94[ASN][1000 genomes]
rs256964	0.94[EUR][1000 genomes]
rs256967	0.92[EUR][1000 genomes]
rs256969	0.92[EUR][1000 genomes]
rs256988	0.92[EUR][1000 genomes]
rs256991	0.92[EUR][1000 genomes]
rs256993	0.92[EUR][1000 genomes]
rs256997	0.90[EUR][1000 genomes]
rs256998	0.92[EUR][1000 genomes]
rs377290	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822579	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs400570	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs413059	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs415577	0.92[EUR][1000 genomes]
rs416234	0.94[ASN][1000 genomes]
rs424434	0.94[ASN][1000 genomes]
rs428191	0.92[ASN][1000 genomes]
rs4920967	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62371215	0.81[ASN][1000 genomes]
rs698366	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs698367	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs712550	0.94[ASN][1000 genomes]
rs712551	0.95[ASN][1000 genomes]
rs7702283	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702869	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7702881	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs790824	0.94[ASN][1000 genomes]
rs790825	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9326969	0.95[ASN][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3369833	chr5:114969653-114971951	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114970400-114972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:114970400-114972200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:114970400-114974000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:114970600-114972200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:114970600-114972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:114970600-114972400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:114970600-114972400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:114970600-114973000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:114970600-114973400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:114970600-114973400	Weak transcription	NHDF-Ad	bronchial
11	chr5:114970600-114974400	Weak transcription	Liver	Liver
12	chr5:114970800-114972800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:114971200-114972800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:114971200-114972800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:114971400-114972000	Bivalent Enhancer	GM12878-XiMat	blood
16	chr5:114971600-114972200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:114971600-114972400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:114971600-114975400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:114971800-114972000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:114971800-114972800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:114971800-114976800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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