Variant report

Variant	rs11647442
Chromosome Location	chr16:31125776-31125777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 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	chr16:31125708-31126234	U87	brain:	n/a	n/a
3	FOXA1	chr16:31125768-31126124	T-47D	breast:	n/a	chr16:31125960-31125972
4	POLR2A	chr16:31125743-31126079	U87	brain:	n/a	n/a
5	FOXA1	chr16:31125763-31126088	T-47D	breast:	n/a	chr16:31125960-31125972
6	POLR2A	chr16:31125534-31126238	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr16:31123925-31126350	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr16:31125739-31126299	HCT-116	colon:	n/a	n/a
9	POLR2A	chr16:31125751-31126094	HCT-116	colon:	n/a	n/a
10	POLR2A	chr16:31122359-31126302	K562	blood:	n/a	n/a
11	POLR2A	chr16:31125702-31126256	U87	brain:	n/a	n/a
12	POLR2A	chr16:31121189-31129707	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:31122629-31129945	K562	blood:	n/a	n/a
14	POLR2A	chr16:31125751-31126336	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr16:31125744-31126335	HepG2	liver:	n/a	n/a
16	HEY1	chr16:31125734-31126063	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:30966754..30971324-chr16:31123642..31126861,4	MCF-7	breast:
2	chr16:31124681..31126235-chr16:31295314..31297710,2	MCF-7	breast:
3	chr16:30995714..30998092-chr16:31123184..31126082,3	K562	blood:
4	chr16:31083576..31088702-chr16:31125774..31130494,10	K562	blood:
5	chr16:31104502..31108581-chr16:31123482..31126128,4	MCF-7	breast:
6	chr16:31123268..31127557-chr16:31200577..31203158,3	K562	blood:
7	chr16:31125394..31127010-chr16:31134629..31136872,2	K562	blood:
8	chr16:30993064..30998093-chr16:31122849..31126082,5	K562	blood:

No data

Variant related genes	Relation type
KAT8	TF binding region
ENSG00000262766	TF binding region
ENSG00000167395	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099377	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1060506	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]
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	1.00[ASN][1000 genomes]
rs12445650	0.84[ASN][1000 genomes]
rs12448321	0.84[ASN][1000 genomes]
rs12597511	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12716981	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12716982	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12934418	0.84[ASN][1000 genomes]
rs14235	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549293	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17839567	0.84[ASN][1000 genomes]
rs17839568	0.95[ASN][1000 genomes]
rs1978485	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978487	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032915	0.91[EUR][1000 genomes];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	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28725459	0.96[ASN][1000 genomes]
rs28814987	0.95[ASN][1000 genomes]
rs2884738	1.00[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	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889530	0.82[ASN][1000 genomes]
rs4889619	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889620	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55766044	1.00[ASN][1000 genomes]
rs55979739	0.84[ASN][1000 genomes]
rs56284083	0.84[ASN][1000 genomes]
rs56314408	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];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	1.00[ASN][1000 genomes]
rs60996860	0.96[ASN][1000 genomes]
rs61162043	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61320757	1.00[ASN][1000 genomes]
rs6565217	0.95[ASN][1000 genomes]
rs7187995	0.89[ASN][1000 genomes]
rs7196161	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7500176	0.84[ASN][1000 genomes]
rs750952	0.95[ASN][1000 genomes]
rs8047803	0.95[ASN][1000 genomes]
rs8050894	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8056842	0.84[ASN][1000 genomes]
rs8061047	0.89[ASN][1000 genomes]
rs881929	0.95[ASN][1000 genomes]
rs889548	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889555	1.00[ASN][1000 genomes]
rs9923231	0.95[ASN][1000 genomes]
rs9925964	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929899	0.82[ASN][1000 genomes]
rs9934438	0.95[ASN][1000 genomes]
rs9936329	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939417	0.84[ASN][1000 genomes]
rs9939558	0.84[ASN][1000 genomes]
rs9972727	0.93[EUR][1000 genomes];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
rs11647442	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs11647442	KAT8	cis	Artery Tibial	GTEx
rs11647442	KAT8	cis	Skin Sun Exposed Lower leg	GTEx
rs11647442	HSD3B7	cis	Whole Blood	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	chr16:31121000-31126200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:31121200-31128000	Weak transcription	Fetal Brain Male	brain
12	chr16:31121400-31127800	Weak transcription	GM12878-XiMat	blood
13	chr16:31121400-31128200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:31121800-31126000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:31121800-31128200	Weak transcription	HMEC	breast
16	chr16:31123800-31128400	Weak transcription	Fetal Lung	lung
17	chr16:31124000-31126200	Enhancers	Primary hematopoietic stem cells	blood
18	chr16:31124000-31127800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr16:31124000-31127800	Enhancers	Liver	Liver
20	chr16:31124000-31127800	Weak transcription	Hela-S3	cervix
21	chr16:31124000-31128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr16:31124000-31128200	Weak transcription	Brain Angular Gyrus	brain
23	chr16:31124000-31128400	Weak transcription	Brain Substantia Nigra	brain
24	chr16:31124000-31128400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr16:31124000-31128600	Weak transcription	Ovary	ovary
26	chr16:31124200-31126200	Enhancers	Primary B cells from cord blood	blood
27	chr16:31124200-31127800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:31124200-31127800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr16:31124200-31128200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr16:31124200-31128200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr16:31124200-31128200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr16:31124400-31126200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:31124400-31126200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr16:31124400-31126800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:31124400-31127200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr16:31124400-31127800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr16:31124400-31127800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr16:31124400-31127800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:31124400-31128000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr16:31124400-31128200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:31124400-31128200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:31124400-31128200	Weak transcription	NH-A	brain
43	chr16:31124400-31128400	Weak transcription	Gastric	stomach
44	chr16:31124600-31126000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr16:31124600-31126000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr16:31124600-31126400	Enhancers	Adipose Nuclei	Adipose
47	chr16:31124600-31126400	Enhancers	Colonic Mucosa	Colon
48	chr16:31124600-31126400	Enhancers	Colon Smooth Muscle	Colon
49	chr16:31124600-31127800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr16:31124600-31127800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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