Variant report

Variant	rs2884738
Chromosome Location	chr16:31126321-31126322
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31125684-31126496	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31126213-31126496	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr16:31123925-31126350	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr16:31121189-31129707	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:31122629-31129945	K562	blood:	n/a	n/a
6	POLR2A	chr16:31125751-31126336	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr16:31125744-31126335	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:31125821-31126506	PANC-1	pancreas:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30966754..30971324-chr16:31123642..31126861,4	MCF-7	breast:
2	chr16:31083576..31088702-chr16:31125774..31130494,10	K562	blood:
3	chr16:31123268..31127557-chr16:31200577..31203158,3	K562	blood:
4	chr16:31125394..31127010-chr16:31134629..31136872,2	K562	blood:
5	chr16:31084249..31087581-chr16:31125866..31130783,7	MCF-7	breast:

No data

Variant related genes	Relation type
KAT8	TF binding region
ENSG00000262766	TF binding region
ENSG00000167394	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000167395	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1060506	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10871454	0.80[ASN][1000 genomes]
rs1108431	0.84[ASN][1000 genomes]
rs11150604	0.84[ASN][1000 genomes]
rs11640767	0.82[ASN][1000 genomes]
rs11640957	0.82[ASN][1000 genomes]
rs11642192	0.93[ASN][1000 genomes]
rs11647284	0.95[ASN][1000 genomes]
rs11647442	1.00[ASN][1000 genomes]
rs11862744	0.84[ASN][1000 genomes]
rs11864806	0.95[ASN][1000 genomes]
rs11864839	0.95[ASN][1000 genomes]
rs11865038	0.95[ASN][1000 genomes]
rs11865499	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12445650	0.84[ASN][1000 genomes]
rs12448321	0.84[ASN][1000 genomes]
rs12597511	0.98[ASN][1000 genomes]
rs12716981	1.00[ASN][1000 genomes]
rs12716982	1.00[ASN][1000 genomes]
rs12934418	0.84[ASN][1000 genomes]
rs14235	1.00[ASN][1000 genomes]
rs1549293	1.00[ASN][1000 genomes]
rs1549299	0.82[EUR][1000 genomes]
rs17839567	0.84[ASN][1000 genomes]
rs17839568	0.95[ASN][1000 genomes]
rs1978485	1.00[ASN][1000 genomes]
rs1978487	1.00[ASN][1000 genomes]
rs2032915	1.00[ASN][1000 genomes]
rs2288004	0.84[ASN][1000 genomes]
rs2303222	0.95[ASN][1000 genomes]
rs2303223	0.93[ASN][1000 genomes]
rs2359612	0.95[ASN][1000 genomes]
rs2855475	1.00[ASN][1000 genomes]
rs28725459	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28814987	0.95[ASN][1000 genomes]
rs34649473	0.81[ASN][1000 genomes]
rs35351013	0.89[ASN][1000 genomes]
rs35468353	0.84[ASN][1000 genomes]
rs35713203	0.95[ASN][1000 genomes]
rs3751855	0.95[ASN][1000 genomes]
rs4468641	0.95[ASN][1000 genomes]
rs4527034	1.00[ASN][1000 genomes]
rs4889530	0.82[ASN][1000 genomes]
rs4889619	0.88[ASN][1000 genomes]
rs4889620	1.00[ASN][1000 genomes]
rs55667375	0.88[EUR][1000 genomes]
rs55766044	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55979739	0.84[ASN][1000 genomes]
rs56284083	0.84[ASN][1000 genomes]
rs56314408	1.00[ASN][1000 genomes]
rs56813533	0.89[ASN][1000 genomes]
rs57434408	0.86[ASN][1000 genomes]
rs58726213	0.82[ASN][1000 genomes]
rs59061704	0.82[ASN][1000 genomes]
rs59735493	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60996860	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61162043	0.95[ASN][1000 genomes]
rs61320757	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6565217	0.95[ASN][1000 genomes]
rs7187995	0.89[ASN][1000 genomes]
rs7196161	0.95[ASN][1000 genomes]
rs7196726	0.95[ASN][1000 genomes]
rs7197717	0.95[ASN][1000 genomes]
rs7199949	0.95[ASN][1000 genomes]
rs7294	0.95[ASN][1000 genomes]
rs732172	0.84[ASN][1000 genomes]
rs732173	0.84[ASN][1000 genomes]
rs73530203	0.93[ASN][1000 genomes]
rs749670	0.95[ASN][1000 genomes]
rs749671	0.95[ASN][1000 genomes]
rs749767	1.00[ASN][1000 genomes]
rs7500176	0.84[ASN][1000 genomes]
rs750952	0.95[ASN][1000 genomes]
rs8047803	0.95[ASN][1000 genomes]
rs8050894	0.95[ASN][1000 genomes]
rs8056842	0.84[ASN][1000 genomes]
rs8061047	0.89[ASN][1000 genomes]
rs881929	0.95[ASN][1000 genomes]
rs889548	1.00[ASN][1000 genomes]
rs889555	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9923231	0.95[ASN][1000 genomes]
rs9925964	1.00[ASN][1000 genomes]
rs9929899	0.82[ASN][1000 genomes]
rs9934438	0.95[ASN][1000 genomes]
rs9936329	1.00[ASN][1000 genomes]
rs9939417	0.84[ASN][1000 genomes]
rs9939558	0.84[ASN][1000 genomes]
rs9972727	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
13	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
14	nsv905743	chr16:31111064-31129942	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2884738	KAT8	cis	Adipose Subcutaneous	GTEx
rs2884738	MYST1	Cis_1M	lymphoblastoid	RTeQTL
rs2884738	KAT8	cis	Skin Sun Exposed Lower leg	GTEx
rs2884738	KAT8	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31120000-31128400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:31120400-31128400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:31120600-31127800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr16:31120600-31128200	Weak transcription	Fetal Kidney	kidney
5	chr16:31120600-31128400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:31120800-31128200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr16:31120800-31128200	Weak transcription	Fetal Heart	heart
8	chr16:31120800-31128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr16:31120800-31129000	Weak transcription	Small Intestine	intestine
10	chr16:31121200-31128000	Weak transcription	Fetal Brain Male	brain
11	chr16:31121400-31127800	Weak transcription	GM12878-XiMat	blood
12	chr16:31121400-31128200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:31121800-31128200	Weak transcription	HMEC	breast
14	chr16:31123800-31128400	Weak transcription	Fetal Lung	lung
15	chr16:31124000-31127800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:31124000-31127800	Enhancers	Liver	Liver
17	chr16:31124000-31127800	Weak transcription	Hela-S3	cervix
18	chr16:31124000-31128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr16:31124000-31128200	Weak transcription	Brain Angular Gyrus	brain
20	chr16:31124000-31128400	Weak transcription	Brain Substantia Nigra	brain
21	chr16:31124000-31128400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:31124000-31128600	Weak transcription	Ovary	ovary
23	chr16:31124200-31127800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:31124200-31127800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr16:31124200-31128200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:31124200-31128200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr16:31124200-31128200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:31124400-31126800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:31124400-31127200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:31124400-31127800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr16:31124400-31127800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr16:31124400-31127800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr16:31124400-31128000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr16:31124400-31128200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr16:31124400-31128200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:31124400-31128200	Weak transcription	NH-A	brain
37	chr16:31124400-31128400	Weak transcription	Gastric	stomach
38	chr16:31124600-31126400	Enhancers	Adipose Nuclei	Adipose
39	chr16:31124600-31126400	Enhancers	Colonic Mucosa	Colon
40	chr16:31124600-31126400	Enhancers	Colon Smooth Muscle	Colon
41	chr16:31124600-31127800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr16:31124600-31127800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr16:31124600-31127800	Weak transcription	Lung	lung
44	chr16:31124600-31127800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr16:31124600-31128000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:31124600-31128000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:31124600-31128200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr16:31124600-31128200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:31124600-31128200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr16:31124600-31128200	Weak transcription	Brain Hippocampus Middle	brain

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