Variant report

Variant	rs4405488
Chromosome Location	chr15:50359360-50359361
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50354152..50355929-chr15:50356946..50359439,2	K562	blood:
2	chr15:50356816..50359493-chr15:50643389..50647117,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11631945	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11632040	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11633979	1.00[ASN][1000 genomes]
rs11636226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639262	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12101762	0.89[ASN][1000 genomes]
rs12595202	0.97[ASN][1000 genomes]
rs17414023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17414093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28373601	0.89[ASN][1000 genomes]
rs28460885	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28492371	0.91[ASN][1000 genomes]
rs28699536	0.91[ASN][1000 genomes]
rs71469677	0.86[ASN][1000 genomes]
rs8025221	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs8041437	0.89[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50348200-50359800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:50352400-50359400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:50354600-50360400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr15:50356000-50360600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr15:50356600-50362000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:50357600-50360600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr15:50358000-50360000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:50358200-50360600	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:50358400-50360600	Enhancers	Duodenum Mucosa	Duodenum
10	chr15:50358400-50361000	Enhancers	Fetal Intestine Small	intestine
11	chr15:50358600-50359400	Enhancers	Colonic Mucosa	Colon
12	chr15:50358600-50359600	Enhancers	Primary B cells from cord blood	blood
13	chr15:50358600-50359600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:50358600-50359600	Enhancers	Rectal Smooth Muscle	rectum
15	chr15:50358600-50360000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr15:50358600-50360000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:50358600-50360000	Enhancers	Small Intestine	intestine
18	chr15:50358600-50360800	Enhancers	Fetal Intestine Large	intestine
19	chr15:50359000-50360800	Enhancers	HepG2	liver
20	chr15:50359200-50359600	Enhancers	Colon Smooth Muscle	Colon
21	chr15:50359200-50359600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr15:50359200-50360000	Enhancers	Brain Hippocampus Middle	brain
23	chr15:50359200-50364000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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