Variant report

Variant	rs438230
Chromosome Location	chr15:93211019-93211020
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11857315	0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12907094	0.88[ASN][1000 genomes]
rs1530026	1.00[CHB][hapmap]
rs16947147	1.00[CHB][hapmap]
rs16947163	1.00[CHB][hapmap]
rs172263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs172264	0.90[ASN][1000 genomes]
rs1874507	1.00[CHB][hapmap]
rs285733	1.00[JPT][hapmap]
rs285746	0.88[ASN][1000 genomes]
rs285747	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs285748	1.00[CHB][hapmap]
rs285753	1.00[CHB][hapmap]
rs374653	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs376138	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs380184	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs389334	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs391059	0.82[AFR][1000 genomes]
rs401072	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs413646	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7171211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7174458	1.00[CHB][hapmap]
rs8025100	1.00[CHB][hapmap]
rs8037598	1.00[CHB][hapmap]
rs8041176	1.00[CHB][hapmap]
rs89062	1.00[CHB][hapmap]

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	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
5	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs438230	LOC400451	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93207200-93211800	Enhancers	Fetal Muscle Trunk	muscle
2	chr15:93207200-93213000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:93207600-93211200	Enhancers	Pancreas	Pancrea
4	chr15:93207600-93211800	Enhancers	Fetal Muscle Leg	muscle
5	chr15:93207800-93211800	Enhancers	Liver	Liver
6	chr15:93207800-93211800	Enhancers	Fetal Stomach	stomach
7	chr15:93208200-93211800	Enhancers	Fetal Heart	heart
8	chr15:93208200-93212000	Enhancers	Fetal Intestine Small	intestine
9	chr15:93208400-93212000	Enhancers	Fetal Kidney	kidney
10	chr15:93208800-93211600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr15:93209000-93211200	Enhancers	GM12878-XiMat	blood
12	chr15:93209000-93211600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr15:93209200-93211200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:93209200-93211600	Enhancers	Placenta	Placenta
15	chr15:93209400-93211600	Enhancers	Fetal Intestine Large	intestine
16	chr15:93209400-93211800	Enhancers	Left Ventricle	heart
17	chr15:93209400-93211800	Enhancers	Right Atrium	heart
18	chr15:93209400-93212000	Enhancers	Ovary	ovary
19	chr15:93209600-93211800	Enhancers	Right Ventricle	heart
20	chr15:93210000-93211200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr15:93210000-93211200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:93210000-93211200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr15:93210000-93211200	Flanking Active TSS	A549	lung
24	chr15:93210000-93211600	Enhancers	Psoas Muscle	Psoas
25	chr15:93210000-93211800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:93210000-93211800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr15:93210000-93211800	Enhancers	Lung	lung
28	chr15:93210000-93212000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:93210200-93211200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr15:93210200-93211200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr15:93210200-93211600	Enhancers	Fetal Thymus	thymus
32	chr15:93210200-93211800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:93210200-93211800	Enhancers	Gastric	stomach
34	chr15:93210400-93211200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:93210400-93211200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:93210400-93211200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
37	chr15:93210400-93211200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr15:93210400-93211200	Enhancers	Stomach Mucosa	stomach
39	chr15:93210400-93211800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:93210400-93211800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:93210600-93211200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr15:93210600-93211200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr15:93210600-93211200	Flanking Active TSS	Colonic Mucosa	Colon
44	chr15:93210600-93211200	Enhancers	HSMM	muscle
45	chr15:93210600-93211400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr15:93210600-93211800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:93210600-93211800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr15:93210800-93212000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:93210800-93212000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr15:93210800-93212800	Weak transcription	HSMMtube	muscle

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