Variant report

Variant	rs619526
Chromosome Location	chr15:41084878-41084879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41081337..41083003-chr15:41083576..41086199,2	K562	blood:
2	chr15:41078916..41081260-chr15:41083932..41085617,2	MCF-7	breast:
3	chr15:41077859..41079629-chr15:41084264..41087034,2	K562	blood:
4	chr15:41078129..41079862-chr15:41083118..41085764,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11070292	0.87[AMR][1000 genomes]
rs11633367	0.86[AMR][1000 genomes]
rs12438182	0.88[AMR][1000 genomes]
rs12912147	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs619526	RMDN3	cis	Muscle Skeletal	GTEx
rs619526	GCHFR	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41067600-41085400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:41068000-41087800	Weak transcription	Fetal Heart	heart
3	chr15:41072400-41090200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:41072600-41098600	Weak transcription	Fetal Brain Female	brain
5	chr15:41072600-41098600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:41078200-41098600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:41079600-41098800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:41080000-41089200	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:41080000-41090400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:41080000-41094600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:41080000-41099000	Weak transcription	Aorta	Aorta
12	chr15:41080200-41085600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:41080200-41085600	Weak transcription	HSMMtube	muscle
14	chr15:41080400-41085400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:41080400-41085400	Weak transcription	Primary T cells from cord blood	blood
16	chr15:41080400-41085600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr15:41080400-41085600	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:41080400-41085600	Weak transcription	NHDF-Ad	bronchial
19	chr15:41080400-41085600	Weak transcription	NHLF	lung
20	chr15:41080400-41085800	Weak transcription	Brain Substantia Nigra	brain
21	chr15:41080400-41093000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:41080400-41098200	Weak transcription	GM12878-XiMat	blood
23	chr15:41080400-41098600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:41080400-41098800	Weak transcription	Brain Angular Gyrus	brain
25	chr15:41080400-41098800	Weak transcription	Brain Anterior Caudate	brain
26	chr15:41080600-41085600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:41080600-41098200	Weak transcription	Fetal Thymus	thymus
28	chr15:41080600-41098600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:41080600-41098600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:41080600-41098600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr15:41081400-41085400	Strong transcription	Fetal Intestine Small	intestine
32	chr15:41081400-41088400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr15:41081400-41098200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:41081600-41085400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:41081600-41085400	Weak transcription	Small Intestine	intestine
36	chr15:41081600-41085600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:41081600-41085800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:41081800-41085400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr15:41081800-41085600	Weak transcription	Liver	Liver
40	chr15:41081800-41085600	Weak transcription	Left Ventricle	heart
41	chr15:41081800-41085600	Weak transcription	Pancreas	Pancrea
42	chr15:41081800-41085600	Weak transcription	Right Atrium	heart
43	chr15:41081800-41086000	Strong transcription	Fetal Stomach	stomach
44	chr15:41081800-41086200	Strong transcription	Fetal Muscle Leg	muscle
45	chr15:41081800-41087200	Weak transcription	Gastric	stomach
46	chr15:41081800-41088000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr15:41081800-41088000	Weak transcription	Psoas Muscle	Psoas
48	chr15:41081800-41090600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr15:41081800-41094600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:41081800-41094600	Weak transcription	Ovary	ovary

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