Variant report

Variant	rs2948095
Chromosome Location	chr3:20110585-20110586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13096186	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2686320	0.81[EUR][1000 genomes]
rs2686321	0.80[EUR][1000 genomes]
rs2686322	0.82[EUR][1000 genomes]
rs2686323	0.80[ASN][1000 genomes]
rs2929389	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2929390	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2929391	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2929392	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2929393	0.83[EUR][1000 genomes]
rs2929394	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2929395	0.85[ASN][1000 genomes]
rs2948094	0.81[EUR][1000 genomes]
rs2948096	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3021408	0.82[EUR][1000 genomes]
rs3749180	0.82[EUR][1000 genomes]
rs3828348	0.82[EUR][1000 genomes]
rs4602410	0.81[EUR][1000 genomes]
rs4858753	0.81[EUR][1000 genomes]
rs4858754	0.81[EUR][1000 genomes]
rs4858758	0.80[EUR][1000 genomes]
rs61440199	0.89[ASN][1000 genomes]
rs6787947	0.81[EUR][1000 genomes]
rs6803231	0.82[EUR][1000 genomes]
rs73822403	0.80[ASN][1000 genomes]
rs7637059	0.89[ASN][1000 genomes]
rs7638345	0.81[EUR][1000 genomes]
rs7645350	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
4	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv433359	chr3:20090908-20587572	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription 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 miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv470450	chr3:20096735-20389045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS 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 miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2948095	KAT2B	cis	Nerve Tibial	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20099000-20122600	Weak transcription	Aorta	Aorta
2	chr3:20099400-20112600	Weak transcription	HSMMtube	muscle
3	chr3:20099400-20112800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:20099400-20122600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:20099400-20122800	Weak transcription	Lung	lung
6	chr3:20102800-20113400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:20103000-20111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:20103200-20112600	Weak transcription	Primary T cells from cord blood	blood
10	chr3:20103200-20112800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr3:20103200-20113000	Weak transcription	Primary B cells from cord blood	blood
12	chr3:20103200-20113000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr3:20103200-20113000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:20103200-20113200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:20103200-20114000	Weak transcription	Liver	Liver
16	chr3:20103200-20119400	Weak transcription	Fetal Intestine Small	intestine
17	chr3:20103200-20122200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:20104000-20111000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:20104200-20111800	Enhancers	Brain Substantia Nigra	brain
20	chr3:20104400-20113400	Enhancers	Brain Hippocampus Middle	brain
21	chr3:20105000-20111000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:20105200-20110800	Enhancers	HMEC	breast
23	chr3:20105800-20113200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:20106000-20111400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:20106400-20122600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:20106800-20112600	Weak transcription	Fetal Heart	heart
27	chr3:20106800-20130800	Weak transcription	Fetal Intestine Large	intestine
28	chr3:20107000-20111400	Weak transcription	Right Ventricle	heart
29	chr3:20107000-20112200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:20107000-20116800	Weak transcription	Small Intestine	intestine
31	chr3:20107000-20117000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:20107000-20122600	Weak transcription	Gastric	stomach
33	chr3:20107000-20122600	Weak transcription	Pancreas	Pancrea
34	chr3:20107000-20122600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:20107200-20110800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:20107200-20122400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:20107400-20112800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:20107800-20110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:20107800-20110800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr3:20107800-20113200	Weak transcription	Right Atrium	heart
41	chr3:20107800-20122600	Weak transcription	Spleen	Spleen
42	chr3:20107800-20122800	Weak transcription	Esophagus	oesophagus
43	chr3:20108200-20111400	Weak transcription	Psoas Muscle	Psoas
44	chr3:20108200-20111400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:20108200-20127600	Weak transcription	Ovary	ovary
46	chr3:20108600-20111000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:20108600-20113000	Weak transcription	Thymus	Thymus
48	chr3:20108600-20113200	Weak transcription	Fetal Muscle Leg	muscle
49	chr3:20108600-20113200	Weak transcription	Left Ventricle	heart
50	chr3:20108800-20110600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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