Variant report

Variant	rs9806221
Chromosome Location	chr15:40887985-40887986
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40856304..40858832-chr15:40886132..40888060,2	K562	blood:
2	chr15:40886701..40889426-chr15:40891344..40893759,6	K562	blood:
3	chr15:40884808..40888126-chr15:40896275..40900248,4	K562	blood:
4	chr15:40763032..40765951-chr15:40886754..40888811,2	K562	blood:
5	chr15:40884637..40889853-chr15:40895293..40899936,6	K562	blood:

Variant related genes	Relation type
ENSG00000238559	Chromatin interaction
ENSG00000128891	Chromatin interaction
ENSG00000169105	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10400825	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10467972	0.84[EUR][1000 genomes]
rs10744948	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070284	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1142468	0.83[EUR][1000 genomes]
rs11561564	0.85[EUR][1000 genomes]
rs11629680	0.82[EUR][1000 genomes]
rs11633367	0.82[EUR][1000 genomes]
rs11638204	0.88[EUR][1000 genomes]
rs11854763	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12438955	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440468	0.84[EUR][1000 genomes]
rs12592882	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12708401	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12899600	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12906095	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12911738	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12912058	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12912339	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12915109	0.88[EUR][1000 genomes]
rs12916082	0.88[EUR][1000 genomes]
rs1901775	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2278888	0.84[EUR][1000 genomes]
rs2304580	0.86[EUR][1000 genomes]
rs2412541	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2619681	0.89[EUR][1000 genomes]
rs3092978	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34285050	0.89[EUR][1000 genomes]
rs4306472	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4417527	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4420508	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4439732	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45457497	0.86[EUR][1000 genomes]
rs4924484	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924487	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4924488	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4924490	0.82[EUR][1000 genomes]
rs4924491	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4924500	0.89[EUR][1000 genomes]
rs55640412	0.84[EUR][1000 genomes]
rs62019923	0.84[EUR][1000 genomes]
rs62019925	0.84[EUR][1000 genomes]
rs6492956	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6492957	0.91[EUR][1000 genomes]
rs6492958	0.91[EUR][1000 genomes]
rs66885559	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7161938	0.91[EUR][1000 genomes]
rs7161968	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7162319	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162509	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7164289	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7167417	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167768	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7168873	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7171260	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7171945	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7172947	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7175361	0.83[EUR][1000 genomes]
rs7176221	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7176974	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177192	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7178486	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025008	0.84[EUR][1000 genomes]
rs8028999	0.84[EUR][1000 genomes]
rs8031057	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8035775	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8037417	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8037804	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8040502	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8041095	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8041443	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs896796	0.81[EUR][1000 genomes]
rs936580	0.94[EUR][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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9806221	RMDN3	cis	Heart Left Ventricle	GTEx
rs9806221	RMDN3	cis	Muscle Skeletal	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40885600-40888200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:40885600-40888200	Active TSS	NHDF-Ad	bronchial
3	chr15:40885600-40888400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:40885800-40888000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr15:40885800-40888000	Active TSS	Thymus	Thymus
6	chr15:40885800-40888400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:40886000-40888000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:40886000-40888000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:40886000-40888000	Active TSS	Colonic Mucosa	Colon
10	chr15:40886000-40888000	Active TSS	GM12878-XiMat	blood
11	chr15:40886000-40888000	Active TSS	Hela-S3	cervix
12	chr15:40886000-40888000	Active TSS	HSMM	muscle
13	chr15:40886000-40888200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:40886000-40888200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr15:40886000-40888200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:40886000-40888200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:40886000-40888200	Active TSS	Fetal Brain Female	brain
18	chr15:40886000-40888400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:40886000-40888400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:40886200-40888000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr15:40886200-40888000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:40886200-40888000	Active TSS	Muscle Satellite Cultured Cells	--
23	chr15:40886200-40888200	Active TSS	A549	lung
24	chr15:40886200-40888200	Active TSS	NHLF	lung
25	chr15:40886200-40888400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:40886400-40888400	Active TSS	Brain Germinal Matrix	brain
27	chr15:40887000-40888200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:40887200-40888000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:40887200-40888200	Flanking Active TSS	Fetal Lung	lung
30	chr15:40887200-40893200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:40887200-40898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:40887400-40888000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr15:40887400-40888000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr15:40887400-40888000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:40887400-40888000	Flanking Active TSS	Osteobl	bone
36	chr15:40887400-40888200	Active TSS	HepG2	liver
37	chr15:40887400-40888200	Flanking Active TSS	NHEK	skin
38	chr15:40887400-40888400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:40887400-40888400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr15:40887400-40888400	Flanking Active TSS	Dnd41	blood
41	chr15:40887400-40888400	Flanking Active TSS	HUVEC	blood vessel
42	chr15:40887400-40891600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:40887600-40888000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr15:40887600-40888000	Enhancers	Fetal Heart	heart
45	chr15:40887600-40888000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr15:40887600-40888400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr15:40887600-40888400	Enhancers	Fetal Intestine Small	intestine
48	chr15:40887600-40898800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:40887600-40902600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:40887600-40941800	Weak transcription	Fetal Intestine Large	intestine

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