Variant report

Variant	rs946219
Chromosome Location	chr1:113734726-113734727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113733655..113735454-chr1:113735620..113737408,2	MCF-7	breast:
2	chr1:113734546..113737390-chr1:113742167..113744163,2	K562	blood:
3	chr1:113733582..113735336-chr1:113738656..113740345,2	K562	blood:
4	chr1:113733744..113735445-chr1:113739417..113740943,2	MCF-7	breast:
5	chr1:113734109..113735807-chr1:113932440..113934771,2	MCF-7	breast:
6	chr1:113734249..113736270-chr1:113809547..113812502,2	K562	blood:

Variant related genes	Relation type
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	0.85[EUR][1000 genomes]
rs10494152	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10494153	0.85[EUR][1000 genomes]
rs10776764	0.81[AMR][1000 genomes]
rs1133524	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12123070	0.83[EUR][1000 genomes]
rs12123194	0.83[EUR][1000 genomes]
rs12123876	0.83[EUR][1000 genomes]
rs12125209	0.85[CEU][hapmap]
rs12125281	0.83[EUR][1000 genomes]
rs12125282	0.83[EUR][1000 genomes]
rs12126040	0.83[EUR][1000 genomes]
rs12126180	0.83[EUR][1000 genomes]
rs12126412	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12126415	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12127119	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12127186	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12129741	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12129773	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12130787	0.83[EUR][1000 genomes]
rs12132547	0.83[EUR][1000 genomes]
rs12134261	0.83[EUR][1000 genomes]
rs12134347	0.81[EUR][1000 genomes]
rs12136369	0.83[EUR][1000 genomes]
rs12137440	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12140812	0.85[EUR][1000 genomes]
rs1216791	0.89[CEU][hapmap]
rs1216796	0.89[CEU][hapmap]
rs1216872	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1216873	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1216878	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1216879	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1216880	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1216881	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1216882	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1216884	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1216885	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1216886	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1216889	0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1216890	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12404563	0.89[CEU][hapmap]
rs12405087	0.80[AMR][1000 genomes]
rs12728957	0.83[EUR][1000 genomes]
rs12736831	0.83[EUR][1000 genomes]
rs1324893	0.85[EUR][1000 genomes]
rs17497065	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs1933660	0.83[EUR][1000 genomes]
rs1999905	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1999906	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34441710	0.83[EUR][1000 genomes]
rs35021265	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35368423	0.83[EUR][1000 genomes]
rs35470019	0.83[EUR][1000 genomes]
rs35495745	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35545085	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4839296	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs4839297	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6537773	0.89[CEU][hapmap]
rs6537777	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6683099	0.89[CEU][hapmap]
rs67028986	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67038449	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7513596	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7513698	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7542423	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs946220	0.85[AMR][1000 genomes];0.85[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:21 , 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	chr1:113733800-113734800	Enhancers	Hela-S3	cervix
3	chr1:113734000-113735000	Enhancers	Esophagus	oesophagus
4	chr1:113734000-113735200	Flanking Active TSS	GM12878-XiMat	blood
5	chr1:113734200-113734800	Active TSS	A549	lung
6	chr1:113734200-113734800	Enhancers	HMEC	breast
7	chr1:113734200-113735000	Enhancers	Left Ventricle	heart
8	chr1:113734200-113735200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:113734200-113735200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr1:113734200-113735200	Enhancers	Stomach Mucosa	stomach
11	chr1:113734200-113735800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:113734200-113740800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:113734400-113735000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:113734400-113735000	Enhancers	K562	blood
15	chr1:113734400-113735200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:113734400-113735200	Enhancers	Colonic Mucosa	Colon
17	chr1:113734400-113735200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:113734400-113735200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:113734600-113734800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:113734600-113735000	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:113734600-113735000	Enhancers	Primary hematopoietic stem cells	blood

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