Variant report

Variant	rs28464719
Chromosome Location	chr15:50500622-50500623
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50406713..50409473-chr15:50499775..50501470,2	K562	blood:
2	chr15:50482238..50484019-chr15:50500279..50502780,2	K562	blood:
3	chr15:50497948..50500138-chr15:50500494..50502743,2	MCF-7	breast:
4	chr15:50498826..50501229-chr15:50648637..50650976,2	K562	blood:
5	chr15:50489847..50492729-chr15:50498593..50501909,3	MCF-7	breast:
6	chr15:50481750..50483779-chr15:50498705..50501221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244879	Chromatin interaction
ENSG00000140284	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16963418	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16963486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28709471	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50476000-50503400	Weak transcription	Colonic Mucosa	Colon
2	chr15:50477600-50502200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:50478400-50502400	Weak transcription	Placenta	Placenta
4	chr15:50480400-50501600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:50482000-50502800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr15:50482600-50501800	Weak transcription	A549	lung
7	chr15:50489400-50502200	Strong transcription	Hela-S3	cervix
8	chr15:50490000-50500800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr15:50490000-50501800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:50492600-50503000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:50494000-50502000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:50494600-50502000	Strong transcription	Fetal Intestine Large	intestine
13	chr15:50497400-50502600	Strong transcription	Primary hematopoietic stem cells	blood
14	chr15:50497800-50502400	Strong transcription	Fetal Intestine Small	intestine
15	chr15:50498000-50515200	Weak transcription	K562	blood
16	chr15:50498200-50504800	Strong transcription	Liver	Liver
17	chr15:50498800-50500800	Weak transcription	HepG2	liver
18	chr15:50498800-50502600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:50499000-50502600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr15:50499200-50502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:50500400-50501800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:50500400-50502200	Weak transcription	Rectal Mucosa Donor 31	rectum

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