Variant report

Variant	rs2365368
Chromosome Location	chr3:20117694-20117695
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20116266..20118891-chr3:20121268..20123312,2	MCF-7	breast:
2	chr3:20116658..20118757-chr3:20120468..20122356,2	K562	blood:
3	chr3:20113304..20115252-chr3:20116309..20118672,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11128935	0.83[ASN][1000 genomes]
rs13082735	0.81[ASN][1000 genomes]
rs17006525	0.84[AMR][1000 genomes]
rs1986917	0.85[EUR][1000 genomes]
rs2140084	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2293140	0.82[ASN][1000 genomes]
rs2293141	0.82[ASN][1000 genomes]
rs2365367	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2365369	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365785	0.81[ASN][1000 genomes]
rs2623077	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2686320	0.85[AMR][1000 genomes]
rs2686321	0.83[AMR][1000 genomes]
rs2686322	0.85[AMR][1000 genomes]
rs2886463	0.81[ASN][1000 genomes]
rs2929393	0.87[EUR][1000 genomes]
rs2948094	0.85[AMR][1000 genomes]
rs3021408	0.85[AMR][1000 genomes]
rs3749180	0.85[AMR][1000 genomes]
rs3828348	0.85[AMR][1000 genomes]
rs3828349	0.81[AMR][1000 genomes]
rs4020098	0.83[ASN][1000 genomes]
rs4419399	0.81[ASN][1000 genomes]
rs4420892	0.83[ASN][1000 genomes]
rs4602410	0.85[AMR][1000 genomes]
rs4858753	0.85[AMR][1000 genomes]
rs4858754	0.85[AMR][1000 genomes]
rs4858756	0.98[EUR][1000 genomes]
rs4858757	0.81[AMR][1000 genomes]
rs4858758	0.85[AMR][1000 genomes]
rs6762971	0.85[AMR][1000 genomes]
rs6763170	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6765791	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6773913	0.82[ASN][1000 genomes]
rs6782086	0.82[ASN][1000 genomes]
rs6783552	0.81[ASN][1000 genomes]
rs6784711	0.82[ASN][1000 genomes]
rs6787947	0.85[AMR][1000 genomes]
rs6803231	0.88[EUR][1000 genomes]
rs7638345	0.81[AMR][1000 genomes]
rs9851449	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
8	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
9	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
10	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
11	nsv1001006	chr3:20110743-20752628	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv536512	chr3:20110743-20752628	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	esv1829018	chr3:20116077-20596244	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2365368	KAT2B	cis	Nerve Tibial	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20099000-20122600	Weak transcription	Aorta	Aorta
2	chr3:20099400-20122600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:20099400-20122800	Weak transcription	Lung	lung
4	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:20103200-20119400	Weak transcription	Fetal Intestine Small	intestine
6	chr3:20103200-20122200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:20106400-20122600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:20106800-20130800	Weak transcription	Fetal Intestine Large	intestine
9	chr3:20107000-20122600	Weak transcription	Gastric	stomach
10	chr3:20107000-20122600	Weak transcription	Pancreas	Pancrea
11	chr3:20107000-20122600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:20107200-20122400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:20107800-20122600	Weak transcription	Spleen	Spleen
14	chr3:20107800-20122800	Weak transcription	Esophagus	oesophagus
15	chr3:20108200-20127600	Weak transcription	Ovary	ovary
16	chr3:20109000-20121200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:20109200-20122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:20110000-20124800	Weak transcription	Placenta	Placenta
19	chr3:20110200-20122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:20110600-20117800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:20110800-20121200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:20110800-20121200	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:20110800-20122000	Weak transcription	Stomach Mucosa	stomach
24	chr3:20111000-20122600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:20111600-20121600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr3:20112800-20117800	Enhancers	Brain Angular Gyrus	brain
27	chr3:20113000-20118200	Strong transcription	Primary B cells from cord blood	blood
28	chr3:20113000-20118600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr3:20113000-20119000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:20113000-20119000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr3:20113200-20119000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:20113400-20122600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr3:20113400-20122600	Weak transcription	HSMMtube	muscle
34	chr3:20113600-20122000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:20113600-20122600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:20113600-20122600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:20113800-20121800	Weak transcription	Right Atrium	heart
38	chr3:20114000-20118600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:20114000-20119200	Enhancers	Brain Hippocampus Middle	brain
40	chr3:20114200-20118600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:20114200-20118600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:20114200-20118800	Weak transcription	Right Ventricle	heart
43	chr3:20114200-20121000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:20114200-20121800	Weak transcription	Adipose Nuclei	Adipose
45	chr3:20114200-20122000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:20114600-20119800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:20114800-20118200	Weak transcription	K562	blood
48	chr3:20114800-20122600	Weak transcription	Fetal Stomach	stomach
49	chr3:20115000-20119800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr3:20115000-20121800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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