Variant report

Variant	rs12902970
Chromosome Location	chr15:83493525-83493526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83418952..83421075-chr15:83493113..83495192,2	K562	blood:

Variant related genes	Relation type
ENSG00000250988	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11259948	0.87[EUR][1000 genomes]
rs11259949	0.87[EUR][1000 genomes]
rs11259952	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1271044	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12903411	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12907913	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1971555	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2379996	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2890314	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66851469	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8025432	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8041231	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[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	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
4	nsv977747	chr15:83479370-83496161	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	nsv9288	chr15:83479484-83496828	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12902970	WHAMM	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83479600-83504200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:83479800-83504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:83480000-83497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:83480000-83501600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:83480400-83493600	Weak transcription	Brain Germinal Matrix	brain
6	chr15:83480400-83500600	Weak transcription	Stomach Mucosa	stomach
7	chr15:83480400-83507000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:83481000-83499800	Weak transcription	Fetal Heart	heart
9	chr15:83481200-83507200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:83481400-83500800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:83481400-83507000	Strong transcription	Placenta	Placenta
12	chr15:83481600-83500800	Strong transcription	Fetal Thymus	thymus
13	chr15:83481600-83507000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr15:83481800-83496400	Strong transcription	Liver	Liver
15	chr15:83481800-83499400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:83481800-83500000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr15:83481800-83506200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:83481800-83507000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr15:83481800-83507600	Strong transcription	Adipose Nuclei	Adipose
20	chr15:83482000-83500000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:83482000-83500200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr15:83482000-83506800	Strong transcription	Fetal Intestine Large	intestine
23	chr15:83482000-83507000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr15:83482200-83500200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr15:83482200-83507000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr15:83482400-83495200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:83482400-83496600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:83482600-83500200	Strong transcription	Fetal Lung	lung
29	chr15:83482800-83500400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:83482800-83506800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr15:83483200-83507400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:83484800-83505400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:83485200-83500600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr15:83485400-83500600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr15:83485800-83496800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:83487800-83500200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:83488000-83493600	Weak transcription	Hela-S3	cervix
38	chr15:83488000-83493600	Weak transcription	K562	blood
39	chr15:83488000-83494000	Weak transcription	HepG2	liver
40	chr15:83488000-83494200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:83488000-83494400	Weak transcription	NHLF	lung
42	chr15:83488000-83496400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:83488400-83505000	Strong transcription	Fetal Stomach	stomach
44	chr15:83488800-83494600	Weak transcription	Brain Angular Gyrus	brain
45	chr15:83488800-83497000	Weak transcription	Psoas Muscle	Psoas
46	chr15:83488800-83501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr15:83489000-83494800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr15:83489000-83497000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr15:83489200-83493600	Weak transcription	Primary B cells from cord blood	blood
50	chr15:83489200-83494600	Weak transcription	Brain Anterior Caudate	brain

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