Variant report

Variant	rs10464362
Chromosome Location	chr7:38218683-38218684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38218320..38221053-chr7:38246020..38247686,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1014136	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10224886	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10234310	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10254082	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10282163	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11766931	0.91[ASN][1000 genomes]
rs11773477	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12669726	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12670582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17410426	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2270165	0.91[ASN][1000 genomes]
rs2392540	0.91[ASN][1000 genomes]
rs28664954	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778894	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55915216	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56147907	0.91[ASN][1000 genomes]
rs56228793	0.90[ASN][1000 genomes]
rs60713125	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62443299	0.99[ASN][1000 genomes]
rs62443315	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9638935	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9639788	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9986766	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10464362	STARD3NL	cis	brain	BrainEAC

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38216800-38218800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:38217000-38218800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:38217000-38218800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:38217000-38218800	Active TSS	Brain Angular Gyrus	brain
5	chr7:38217000-38218800	Active TSS	Fetal Brain Female	brain
6	chr7:38217000-38219200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:38217000-38219400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:38217000-38219400	Active TSS	GM12878-XiMat	blood
9	chr7:38217000-38219600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:38217000-38219800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:38217200-38218800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr7:38217200-38218800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr7:38217200-38218800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:38217200-38218800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:38217200-38218800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:38217200-38218800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:38217200-38218800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:38217200-38218800	Active TSS	Primary T cells fromperipheralblood	blood
19	chr7:38217200-38218800	Active TSS	Fetal Lung	lung
20	chr7:38217200-38218800	Active TSS	Fetal Muscle Trunk	muscle
21	chr7:38217200-38218800	Active TSS	Fetal Stomach	stomach
22	chr7:38217200-38218800	Active TSS	Fetal Thymus	thymus
23	chr7:38217200-38218800	Active TSS	Psoas Muscle	Psoas
24	chr7:38217200-38218800	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr7:38217200-38218800	Active TSS	A549	lung
26	chr7:38217200-38218800	Active TSS	K562	blood
27	chr7:38217200-38219000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:38217200-38219000	Active TSS	Colon Smooth Muscle	Colon
29	chr7:38217200-38219000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:38217200-38219000	Active TSS	Fetal Muscle Leg	muscle
31	chr7:38217200-38219000	Active TSS	Right Atrium	heart
32	chr7:38217200-38219000	Active TSS	Right Ventricle	heart
33	chr7:38217200-38219000	Active TSS	HSMMtube	muscle
34	chr7:38217200-38219200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr7:38217200-38219200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:38217200-38219200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:38217200-38219200	Active TSS	Rectal Smooth Muscle	rectum
38	chr7:38217200-38219400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:38217200-38219400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:38217200-38219400	Active TSS	Ovary	ovary
41	chr7:38217200-38219600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:38217200-38219600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:38217200-38220000	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr7:38217200-38220000	Active TSS	Stomach Smooth Muscle	stomach
45	chr7:38217200-38220600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr7:38217400-38218800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:38217400-38218800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:38217400-38218800	Active TSS	Duodenum Mucosa	Duodenum
49	chr7:38217400-38218800	Active TSS	Placenta	Placenta
50	chr7:38217400-38219000	Active TSS	Aorta	Aorta

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