Variant report

Variant	rs7168944
Chromosome Location	chr15:50405244-50405245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10519259	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070747	0.85[JPT][hapmap]
rs11857230	0.85[JPT][hapmap]
rs12148444	0.81[JPT][hapmap]
rs2414018	0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28416764	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2899454	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3985833	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41362650	0.81[JPT][hapmap]
rs4143837	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs4775851	0.85[JPT][hapmap]
rs56216064	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62021719	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6493402	0.85[JPT][hapmap]
rs7170781	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7172916	0.95[CEU][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7173633	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7177318	0.81[JPT][hapmap]
rs8040030	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv529006	chr15:50405175-50405244	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50399200-50407200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr15:50399800-50407800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:50402200-50406400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:50402600-50405800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:50402600-50407800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr15:50403400-50409000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
7	chr15:50403600-50409000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:50403800-50405600	Active TSS	Brain Hippocampus Middle	brain
9	chr15:50403800-50411200	Weak transcription	Thymus	Thymus
10	chr15:50404000-50405600	Active TSS	Fetal Muscle Leg	muscle
11	chr15:50404400-50405400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
12	chr15:50404400-50405600	Active TSS	Adipose Nuclei	Adipose
13	chr15:50404400-50405600	Active TSS	Placenta	Placenta
14	chr15:50404400-50406800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr15:50404600-50405400	Active TSS	Duodenum Mucosa	Duodenum
16	chr15:50404600-50405400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr15:50404600-50405800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr15:50404800-50405400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr15:50404800-50405400	Active TSS	Stomach Smooth Muscle	stomach
20	chr15:50405000-50405400	Active TSS	Brain Anterior Caudate	brain
21	chr15:50405000-50405400	Enhancers	Spleen	Spleen
22	chr15:50405000-50405400	Weak transcription	K562	blood
23	chr15:50405000-50405600	Active TSS	Liver	Liver
24	chr15:50405000-50405800	Enhancers	GM12878-XiMat	blood
25	chr15:50405200-50405400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr15:50405200-50405600	ZNF genes & repeats	Fetal Thymus	thymus

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