Variant report

Variant	rs12916104
Chromosome Location	chr15:56192861-56192862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56189708..56191637-chr15:56192609..56194993,2	K562	blood:
2	chr15:56190390..56193219-chr15:56284965..56287438,2	MCF-7	breast:
3	chr15:56189708..56191734-chr15:56192609..56195384,4	K562	blood:

Variant related genes	Relation type
ENSG00000069869	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1912394	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1912399	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1912409	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2414450	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2438129	0.88[ASN][1000 genomes]
rs34671862	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62043800	0.85[ASN][1000 genomes]
rs8027843	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806179	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][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	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv2761966	chr15:56167250-56192861	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv569542	chr15:56185262-56210929	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56176000-56216200	Weak transcription	Fetal Intestine Small	intestine
2	chr15:56188400-56207800	Weak transcription	Primary T cells from cord blood	blood
3	chr15:56188600-56218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:56190000-56220000	Weak transcription	Pancreas	Pancrea
5	chr15:56190200-56195400	Weak transcription	NHLF	lung
6	chr15:56190200-56195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:56190200-56199400	Weak transcription	HSMMtube	muscle
8	chr15:56190200-56201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:56190200-56221200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:56190400-56194400	Weak transcription	NH-A	brain
11	chr15:56190400-56195400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:56190400-56196600	Weak transcription	HMEC	breast
13	chr15:56190400-56199200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:56190400-56199200	Weak transcription	NHDF-Ad	bronchial
15	chr15:56190400-56199600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:56190400-56219800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:56190600-56193600	Weak transcription	HSMM	muscle
18	chr15:56190600-56195000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr15:56190600-56195000	Weak transcription	Osteobl	bone
20	chr15:56190800-56196600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:56190800-56196600	Weak transcription	NHEK	skin
22	chr15:56190800-56199400	Weak transcription	Hela-S3	cervix
23	chr15:56192400-56195000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:56192400-56207800	Weak transcription	Liver	Liver
25	chr15:56192600-56193400	Enhancers	A549	lung
26	chr15:56192600-56199800	Weak transcription	Psoas Muscle	Psoas
27	chr15:56192600-56200800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr15:56192600-56209000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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