Variant report

Variant	rs12914161
Chromosome Location	chr15:83476317-83476318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83438498..83441390-chr15:83475483..83477867,2	K562	blood:
2	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:
3	chr15:83396804..83398373-chr15:83475659..83477740,2	MCF-7	breast:
4	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
5	chr15:83476033..83478214-chr15:83679893..83681510,2	K562	blood:
6	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
7	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
8	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260608	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000252690	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1105867	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1256429	0.84[EUR][1000 genomes]
rs1256451	0.82[EUR][1000 genomes]
rs1256456	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12905235	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12910279	0.84[EUR][1000 genomes]
rs1553883	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1877241	0.84[EUR][1000 genomes]
rs2089844	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2379992	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2379993	0.84[EUR][1000 genomes]
rs2458017	0.84[EUR][1000 genomes]
rs2928572	0.84[EUR][1000 genomes]
rs4238539	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4779063	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4779065	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7163402	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12914161	WHAMM	cis	Adipose Subcutaneous	GTEx
rs12914161	RPS17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83450400-83477600	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:83469200-83477600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:83469400-83477600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:83469800-83477400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:83471000-83477600	Weak transcription	Spleen	Spleen
6	chr15:83471200-83478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:83472000-83477800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:83472400-83478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:83473600-83477600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:83473600-83477800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:83473800-83477400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:83473800-83477600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:83473800-83477600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:83473800-83477600	Weak transcription	NHEK	skin
15	chr15:83474000-83477400	Weak transcription	HMEC	breast
16	chr15:83474800-83477400	Weak transcription	Right Ventricle	heart
17	chr15:83474800-83477600	Weak transcription	Brain Angular Gyrus	brain
18	chr15:83475000-83476600	Weak transcription	Right Atrium	heart
19	chr15:83475000-83477400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:83475000-83477400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:83475000-83477400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:83475000-83477400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr15:83475000-83477400	Weak transcription	Pancreas	Pancrea
24	chr15:83475000-83478400	Weak transcription	Left Ventricle	heart
25	chr15:83475200-83477200	Weak transcription	K562	blood
26	chr15:83475200-83477400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:83475200-83477400	Weak transcription	HSMM	muscle
28	chr15:83475200-83477400	Weak transcription	HSMMtube	muscle
29	chr15:83475400-83476400	Enhancers	GM12878-XiMat	blood
30	chr15:83475400-83477200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr15:83475400-83477200	Weak transcription	Hela-S3	cervix
32	chr15:83475400-83477600	Weak transcription	Primary B cells from cord blood	blood
33	chr15:83475600-83477000	Enhancers	Psoas Muscle	Psoas
34	chr15:83475600-83477000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr15:83475600-83477800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:83475600-83478000	Enhancers	Fetal Muscle Leg	muscle
37	chr15:83475800-83477400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr15:83476200-83477200	Weak transcription	Fetal Heart	heart

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