Variant report

Variant	rs896796
Chromosome Location	chr15:40841686-40841687
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40839583..40841943-chr15:40885345..40887458,2	K562	blood:

Variant related genes	Relation type
ENSG00000137812	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10400825	0.87[EUR][1000 genomes]
rs10467972	0.91[CEU][hapmap];0.97[EUR][1000 genomes]
rs11070284	0.82[EUR][1000 genomes]
rs11070292	0.91[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11629680	0.94[EUR][1000 genomes]
rs11637239	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11638742	0.83[YRI][hapmap]
rs11854763	0.82[EUR][1000 genomes]
rs12438955	0.82[EUR][1000 genomes]
rs12440468	0.97[EUR][1000 genomes]
rs12592882	0.94[EUR][1000 genomes]
rs12708401	0.82[EUR][1000 genomes]
rs12911738	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12912058	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12912339	0.82[EUR][1000 genomes]
rs12915109	0.85[EUR][1000 genomes]
rs12916082	0.85[EUR][1000 genomes]
rs17747351	1.00[CEU][hapmap]
rs1901775	0.94[EUR][1000 genomes]
rs2278888	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2304580	1.00[CEU][hapmap]
rs2412541	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2619681	1.00[CEU][hapmap]
rs3092978	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4417527	1.00[CEU][hapmap]
rs4420508	0.82[EUR][1000 genomes]
rs4439732	0.94[EUR][1000 genomes]
rs4924472	1.00[YRI][hapmap]
rs4924478	1.00[YRI][hapmap]
rs4924484	0.83[EUR][1000 genomes]
rs4924487	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4924488	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4924500	1.00[CEU][hapmap]
rs55640412	0.97[EUR][1000 genomes]
rs6492957	0.89[EUR][1000 genomes]
rs6492958	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs66885559	0.93[EUR][1000 genomes]
rs7161938	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7161968	0.87[EUR][1000 genomes]
rs7162319	0.93[EUR][1000 genomes]
rs7162509	0.93[EUR][1000 genomes]
rs7164289	0.88[EUR][1000 genomes]
rs7167417	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7171260	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7171945	0.92[EUR][1000 genomes]
rs7172947	0.87[EUR][1000 genomes]
rs7176974	0.82[EUR][1000 genomes]
rs7177192	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7178486	0.82[EUR][1000 genomes]
rs72733486	0.89[EUR][1000 genomes]
rs8028999	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs8035775	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs8037417	0.91[EUR][1000 genomes]
rs8037804	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs8040502	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs8042729	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs9806221	0.81[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
rs896796	RMDN3	cis	Heart Left Ventricle	GTEx
rs896796	RMDN3	cis	Muscle Skeletal	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40816800-40845600	Weak transcription	Ovary	ovary
2	chr15:40819600-40845000	Weak transcription	Pancreas	Pancrea
3	chr15:40821400-40848000	Weak transcription	Brain Anterior Caudate	brain
4	chr15:40821800-40856400	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:40822600-40856400	Weak transcription	Small Intestine	intestine
6	chr15:40823800-40841800	Weak transcription	Brain Substantia Nigra	brain
7	chr15:40824800-40842600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:40827600-40842000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:40828000-40856600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:40829200-40845200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:40829400-40845000	Weak transcription	NHLF	lung
12	chr15:40829600-40845000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:40829600-40845200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:40829800-40845400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:40829800-40846000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:40831600-40856600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:40831800-40843600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:40831800-40845800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:40832000-40844800	Weak transcription	Aorta	Aorta
20	chr15:40832000-40845600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:40832000-40845800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:40832600-40845200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:40833400-40845200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:40834600-40845200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:40834800-40842200	Weak transcription	K562	blood
26	chr15:40837600-40842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr15:40837800-40841800	Weak transcription	Dnd41	blood
28	chr15:40837800-40845200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:40838000-40845200	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr15:40838000-40848200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:40838000-40856400	Weak transcription	A549	lung
32	chr15:40838200-40845800	Weak transcription	Brain Germinal Matrix	brain
33	chr15:40838200-40846600	Strong transcription	Fetal Intestine Small	intestine
34	chr15:40838600-40847000	Weak transcription	Fetal Brain Male	brain
35	chr15:40838600-40852800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:40838600-40855600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr15:40838800-40846200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:40838800-40846600	Strong transcription	Fetal Stomach	stomach
39	chr15:40839000-40845800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:40839000-40847200	Weak transcription	Brain Angular Gyrus	brain
41	chr15:40839200-40841800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:40839200-40842000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:40839200-40842400	Enhancers	Psoas Muscle	Psoas
44	chr15:40839200-40842600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:40839200-40843000	Strong transcription	Esophagus	oesophagus
46	chr15:40839200-40843200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:40839200-40843200	Strong transcription	Primary T cells from cord blood	blood
48	chr15:40839200-40843800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr15:40839200-40844200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:40839200-40845800	Weak transcription	Stomach Mucosa	stomach

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