Variant report

Variant	rs4948674
Chromosome Location	chr10:45945690-45945691
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	chr10:45944247..45946438-chr10:45948788..45951299,2	K562	blood:
2	chr10:45939821..45943936-chr10:45944562..45947310,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1073525	0.89[CEU][hapmap]
rs10751387	0.85[CEU][hapmap]
rs4367907	0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4949013	0.88[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs7081687	0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv895110	chr10:45912771-45953767	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4948674	AGAP4	cis	Muscle Skeletal	GTEx
rs4948674	AGAP4	cis	Artery Tibial	GTEx
rs4948674	ALOX5	cis	cerebellum	SCAN
rs4948674	ZNF485	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45916600-45949200	Weak transcription	Gastric	stomach
2	chr10:45925000-45949200	Weak transcription	Lung	lung
3	chr10:45928800-45951000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:45929200-45951600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:45934000-45951200	Weak transcription	Esophagus	oesophagus
6	chr10:45937800-45948200	Weak transcription	Adipose Nuclei	Adipose
7	chr10:45938200-45948600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr10:45938600-45967200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:45938600-45967200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:45939600-45949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:45940000-45948600	Weak transcription	Fetal Stomach	stomach
12	chr10:45941000-45948600	Weak transcription	Fetal Intestine Small	intestine
13	chr10:45941000-45949200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:45941200-45949600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:45941400-45948600	Weak transcription	Left Ventricle	heart
16	chr10:45941400-45948800	Weak transcription	Right Ventricle	heart
17	chr10:45941400-45949200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:45941600-45949400	Weak transcription	Brain Angular Gyrus	brain
19	chr10:45941600-45949600	Weak transcription	Brain Substantia Nigra	brain
20	chr10:45941600-45950400	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:45941800-45949400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:45941800-45951000	Weak transcription	Placenta	Placenta
23	chr10:45941800-45951600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr10:45942000-45949400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:45942000-45951800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr10:45942400-45950600	Weak transcription	Colon Smooth Muscle	Colon
27	chr10:45942800-45946800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr10:45942800-45948400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr10:45942800-45953200	Weak transcription	Spleen	Spleen
30	chr10:45943000-45948600	Weak transcription	HSMMtube	muscle
31	chr10:45943000-45952800	Weak transcription	Primary B cells from cord blood	blood
32	chr10:45943200-45948400	Weak transcription	Pancreas	Pancrea
33	chr10:45943200-45955000	Weak transcription	Colonic Mucosa	Colon
34	chr10:45943200-45965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:45943400-45954000	Weak transcription	K562	blood
36	chr10:45943600-45945800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr10:45943600-45948400	Weak transcription	Fetal Muscle Leg	muscle
38	chr10:45943600-45949200	Weak transcription	Right Atrium	heart
39	chr10:45944400-45946400	Weak transcription	Liver	Liver
40	chr10:45945600-45948400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr10:45945600-45951000	Weak transcription	Thymus	Thymus

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