Variant report

Variant	rs4889228
Chromosome Location	chr16:81111524-81111525
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81110236-81111530	ProgFib	skin:	n/a	n/a
2	POLR2A	chr16:81110124-81111815	IMR90	lung:	n/a	n/a
3	POLR2A	chr16:81110157-81111586	K562	blood:	n/a	n/a
4	POLR2A	chr16:81110266-81111624	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:81110054-81111594	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr16:81110205-81111640	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr16:81110156-81112906	K562	blood:	n/a	n/a
8	MTA3	chr16:81109928-81111606	GM12878	blood:	n/a	n/a
9	REST	chr16:81109991-81111618	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr16:81110022-81111645	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:81110094-81111678	HCT-116	colon:	n/a	n/a
12	MXI1	chr16:81109368-81111544	SK-N-SH	brain:	n/a	n/a
13	GABPA	chr16:81110093-81111675	MCF-7	breast:	n/a	n/a
14	MAZ	chr16:81109953-81111589	IMR90	lung:	n/a	chr16:81110826-81110835
15	POLR2A	chr16:81109812-81111794	HepG2	liver:	n/a	n/a
16	FOSL2	chr16:81110125-81111748	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:81110189-81111713	K562	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81073990..81076535-chr16:81110612..81112776,2	MCF-7	breast:
2	chr16:81109459..81113813-chr16:81119137..81125158,9	MCF-7	breast:
3	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
4	chr16:81109242..81112738-chr16:81125910..81131139,12	MCF-7	breast:
5	chr16:81096522..81104265-chr16:81107324..81112531,10	MCF-7	breast:
6	chr16:81039722..81044457-chr16:81106699..81112118,5	MCF-7	breast:
7	chr16:81102378..81105736-chr16:81109275..81112562,6	K562	blood:
8	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
9	chr16:81038376..81042418-chr16:81108432..81111584,4	K562	blood:
10	chr16:81109109..81111856-chr16:81126620..81130593,5	MCF-7	breast:
11	chr16:81110316..81112473-chr16:81346981..81348533,2	MCF-7	breast:
12	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
13	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
14	chr16:81109214..81111850-chr16:81221258..81223565,2	MCF-7	breast:
15	chr16:81102378..81105736-chr16:81109334..81111887,5	K562	blood:
16	chr16:81110779..81112641-chr16:81230562..81234042,3	MCF-7	breast:
17	chr16:81109389..81113385-chr16:81129533..81131576,3	K562	blood:
18	chr16:81108969..81114076-chr16:81128464..81132360,7	K562	blood:
19	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:

No data

Variant related genes	Relation type
C16orf46	TF binding region
ENSG00000166473	Chromatin interaction
ENSG00000261838	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000260643	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000260495	Chromatin interaction
ENSG00000140905	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11150339	0.81[AFR][1000 genomes]
rs2045039	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2316728	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2549902	0.88[AFR][1000 genomes]
rs4889226	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889232	0.88[AFR][1000 genomes]
rs5023851	0.84[AFR][1000 genomes]
rs6420420	0.81[AFR][1000 genomes]
rs6564818	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187102	0.86[AFR][1000 genomes]
rs804898	0.83[AFR][1000 genomes]
rs804900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804901	0.88[AFR][1000 genomes]
rs811704	0.88[AFR][1000 genomes]
rs8177931	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats 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	71 gene(s)	inside rSNPs	diseases
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81109800-81111600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr16:81109800-81111600	Active TSS	Brain Angular Gyrus	brain
3	chr16:81109800-81111800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:81109800-81112000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr16:81110000-81111600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr16:81110000-81111600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr16:81110000-81111600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr16:81110000-81111600	Active TSS	Colonic Mucosa	Colon
9	chr16:81110000-81111600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr16:81110000-81111600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr16:81110000-81111600	Active TSS	Right Atrium	heart
12	chr16:81110000-81111600	Active TSS	A549	lung
13	chr16:81110000-81111600	Active TSS	NH-A	brain
14	chr16:81110200-81111600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr16:81110200-81111600	Active TSS	Primary T cells from cord blood	blood
16	chr16:81110200-81111600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:81110200-81111600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr16:81110200-81111600	Active TSS	Brain Hippocampus Middle	brain
19	chr16:81110200-81111600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:81110200-81111600	Active TSS	Fetal Stomach	stomach
21	chr16:81110200-81111600	Active TSS	GM12878-XiMat	blood
22	chr16:81110400-81111600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:81110400-81111600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:81110400-81111600	Active TSS	Fetal Kidney	kidney
25	chr16:81110400-81111600	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr16:81110800-81111600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:81111000-81111600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:81111000-81111600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr16:81111000-81111600	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr16:81111000-81111600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr16:81111000-81111600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr16:81111000-81111600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr16:81111000-81111600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr16:81111000-81111600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:81111000-81111600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:81111000-81111600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr16:81111000-81111600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:81111000-81111600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr16:81111000-81111600	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr16:81111000-81111600	Flanking Active TSS	Dnd41	blood
41	chr16:81111200-81111600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:81111200-81111600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:81111200-81111600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:81111200-81111600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:81111200-81111600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr16:81111200-81111600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr16:81111200-81111600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr16:81111200-81111600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr16:81111200-81111600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:81111200-81111600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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