Variant report

Variant	rs12438954
Chromosome Location	chr15:57627749-57627750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57627482..57629792-chr15:57631496..57634850,3	K562	blood:
2	chr15:57627655..57630463-chr15:57790410..57793260,2	K562	blood:
3	chr15:57603147..57604831-chr15:57626994..57629042,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10518910	1.00[CEU][hapmap]
rs1122890	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12438324	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12438331	1.00[AFR][1000 genomes]
rs12438428	1.00[CEU][hapmap]
rs12438782	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12439374	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12440878	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12441107	1.00[AFR][1000 genomes]
rs12442024	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12442879	1.00[CEU][hapmap]
rs12443076	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12443097	1.00[AFR][1000 genomes]
rs1462157	1.00[CEU][hapmap]
rs16977521	1.00[AFR][1000 genomes]
rs17239522	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17239543	1.00[AFR][1000 genomes]
rs17819994	1.00[CEU][hapmap]
rs17820077	1.00[AFR][1000 genomes]
rs17820119	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17820131	1.00[AFR][1000 genomes]
rs1867637	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2414499	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs2544143	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4514619	1.00[CEU][hapmap]
rs8031866	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv569579	chr15:57622600-57775806	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1045656	chr15:57622685-57748473	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv542395	chr15:57622685-57748473	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2751536	chr15:57627408-57788408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57613000-57635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:57618600-57632000	Weak transcription	Spleen	Spleen
3	chr15:57622800-57629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:57624400-57628200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:57624600-57628200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:57624600-57628400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:57625200-57632000	Enhancers	HUVEC	blood vessel
8	chr15:57625800-57628200	Enhancers	K562	blood
9	chr15:57626000-57628200	Enhancers	Fetal Heart	heart
10	chr15:57626200-57628400	Enhancers	Fetal Intestine Small	intestine
11	chr15:57626400-57628200	Enhancers	Fetal Stomach	stomach
12	chr15:57626400-57628200	Enhancers	Lung	lung
13	chr15:57626400-57628400	Enhancers	Fetal Intestine Large	intestine
14	chr15:57626600-57627800	Enhancers	Fetal Lung	lung
15	chr15:57626600-57628200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr15:57626600-57632600	Enhancers	Fetal Muscle Trunk	muscle
17	chr15:57626600-57633400	Enhancers	Fetal Muscle Leg	muscle
18	chr15:57626800-57627800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr15:57626800-57628000	Enhancers	Placenta	Placenta
20	chr15:57626800-57630000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:57627000-57627800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:57627000-57627800	Enhancers	Adipose Nuclei	Adipose
23	chr15:57627000-57628000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:57627000-57629800	Weak transcription	HSMM	muscle
25	chr15:57627000-57630000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:57627000-57631000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr15:57627000-57633000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:57627200-57629600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:57627200-57630000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:57627200-57630000	Weak transcription	NH-A	brain
31	chr15:57627200-57635400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr15:57627200-57635400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:57627400-57628200	Enhancers	Fetal Kidney	kidney
34	chr15:57627400-57628200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr15:57627400-57630200	Weak transcription	HSMMtube	muscle
36	chr15:57627400-57635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:57627600-57629800	Weak transcription	Stomach Mucosa	stomach
38	chr15:57627600-57668200	Weak transcription	Right Atrium	heart

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