Variant report

Variant	rs8038416
Chromosome Location	chr15:40900719-40900720
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40900479..40903844-chr15:40904116..40906813,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12915109	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12916082	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4924490	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6492957	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6492958	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7161938	0.92[AMR][1000 genomes];0.90[ASN][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	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
2	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
3	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8038416	RMDN3	cis	Muscle Skeletal	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40887600-40902600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr15:40887600-40941800	Weak transcription	Fetal Intestine Large	intestine
3	chr15:40887800-40902000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:40887800-40933200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:40887800-40942200	Weak transcription	Primary B cells from cord blood	blood
6	chr15:40887800-40948200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:40887800-40961600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:40888000-40901200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:40888000-40903400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:40888000-40956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:40888200-40902200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:40888200-40912800	Weak transcription	HMEC	breast
13	chr15:40888400-40900800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:40888400-40913200	Weak transcription	NHDF-Ad	bronchial
15	chr15:40888400-40913600	Weak transcription	NHLF	lung
16	chr15:40888400-40923200	Weak transcription	Osteobl	bone
17	chr15:40888400-40925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:40888400-40944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:40889600-40901400	Weak transcription	HepG2	liver
20	chr15:40890800-40904800	Weak transcription	A549	lung
21	chr15:40890800-40925200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:40893400-40907200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:40893600-40922600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:40895000-40903200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr15:40895800-40905200	Strong transcription	Fetal Thymus	thymus
26	chr15:40895800-40905600	Strong transcription	Dnd41	blood
27	chr15:40896000-40910200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:40896800-40910400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:40897800-40903000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr15:40897800-40957200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:40898000-40902600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:40898000-40905400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:40898200-40903200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:40898200-40907800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:40898800-40901000	Weak transcription	Hela-S3	cervix
36	chr15:40898800-40903600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:40899200-40901600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:40899400-40902000	Weak transcription	Fetal Stomach	stomach
39	chr15:40899400-40902600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:40899400-40922600	Weak transcription	Fetal Intestine Small	intestine
41	chr15:40899600-40901000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:40899600-40901400	Weak transcription	Thymus	Thymus
43	chr15:40899600-40911600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:40899600-40911800	Weak transcription	Fetal Muscle Leg	muscle
45	chr15:40899600-40913200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr15:40899800-40903200	Strong transcription	HUVEC	blood vessel
47	chr15:40900000-40901600	Weak transcription	K562	blood
48	chr15:40900000-40902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:40900000-40902200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:40900000-40902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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