Variant report

Variant	rs1216889
Chromosome Location	chr1:113738353-113738354
allele	C/T
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	ELF1	chr1:113738224-113738541	K562	blood:	n/a	chr1:113738364-113738377 chr1:113738407-113738416 chr1:113738405-113738418 chr1:113738406-113738417

No.	Distal block	Cell Line	Cell type
1	chr1:113737599..113739431-chr1:113933048..113934641,2	MCF-7	breast:
2	chr1:113736472..113740505-chr1:113740581..113744406,4	MCF-7	breast:
3	chr1:113736589..113741335-chr1:113931781..113934442,4	MCF-7	breast:
4	chr1:113737370..113741159-chr1:113741484..113744250,4	K562	blood:
5	chr1:113737275..113741073-chr1:113748571..113751265,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236887	TF binding region
ENSG00000236887	Chromatin interaction
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10442680	0.86[EUR][1000 genomes]
rs10494152	0.84[EUR][1000 genomes]
rs10494153	0.86[EUR][1000 genomes]
rs10776764	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1133524	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123070	0.84[EUR][1000 genomes]
rs12123194	0.84[EUR][1000 genomes]
rs12123876	0.84[EUR][1000 genomes]
rs12125281	0.84[EUR][1000 genomes]
rs12125282	0.84[EUR][1000 genomes]
rs12126040	0.84[EUR][1000 genomes]
rs12126180	0.84[EUR][1000 genomes]
rs12126412	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs12126415	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs12127119	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs12127186	0.84[EUR][1000 genomes]
rs12129741	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs12129773	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs12130787	0.84[EUR][1000 genomes]
rs12131406	0.81[EUR][1000 genomes]
rs12132547	0.84[EUR][1000 genomes]
rs12133159	0.81[EUR][1000 genomes]
rs12134261	0.84[EUR][1000 genomes]
rs12134347	0.82[EUR][1000 genomes]
rs12136369	0.84[EUR][1000 genomes]
rs12137440	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs12140812	0.86[EUR][1000 genomes]
rs1216872	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1216873	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1216878	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1216879	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1216880	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1216881	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1216882	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1216884	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1216885	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1216886	0.88[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1216890	0.81[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12404563	0.80[AMR][1000 genomes]
rs12405087	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12728957	0.84[EUR][1000 genomes]
rs12736831	0.84[EUR][1000 genomes]
rs1324893	0.86[EUR][1000 genomes]
rs17497065	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs1933660	0.84[EUR][1000 genomes]
rs1999905	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs1999906	0.84[EUR][1000 genomes]
rs34441710	0.84[EUR][1000 genomes]
rs35021265	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35368423	0.84[EUR][1000 genomes]
rs35470019	0.84[EUR][1000 genomes]
rs35495745	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35545085	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35822819	0.81[EUR][1000 genomes]
rs4839296	0.82[AMR][1000 genomes]
rs4839297	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6537777	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6683099	0.80[AMR][1000 genomes]
rs67028986	0.84[EUR][1000 genomes]
rs67038449	0.84[EUR][1000 genomes]
rs7513596	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs7513698	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs7542423	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7556534	0.81[EUR][1000 genomes]
rs946219	0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs946220	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer 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	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113733400-113745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:113734200-113740800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:113734800-113741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:113735000-113738600	Weak transcription	Esophagus	oesophagus
5	chr1:113735000-113742400	Weak transcription	K562	blood
6	chr1:113735200-113738600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:113736200-113741000	Weak transcription	Lung	lung
8	chr1:113738000-113738800	Enhancers	Fetal Intestine Small	intestine
9	chr1:113738000-113738800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:113738000-113741800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:113738200-113739800	Enhancers	HUES6 Cell Line	embryonic stem cell

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