Variant report

Variant	rs12929903
Chromosome Location	chr16:81066899-81066900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81066804-81066913	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
2	chr16:81060980..81065115-chr16:81066790..81068667,3	K562	blood:
3	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
4	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
5	chr16:81065817..81067456-chr16:81067687..81069877,2	K562	blood:
6	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
7	chr16:81054446..81058037-chr16:81066516..81068816,3	MCF-7	breast:
8	chr16:81066324..81068444-chr16:81068507..81070080,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATMIN	TF binding region
ENSG00000166451	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000261061	Chromatin interaction
ENSG00000260213	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11150337	0.89[ASN][1000 genomes]
rs11863158	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12928556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12935418	0.90[ASN][1000 genomes]
rs2278025	0.83[ASN][1000 genomes]
rs2549892	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2602401	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602431	0.81[ASN][1000 genomes]
rs2873310	0.81[ASN][1000 genomes]
rs62054589	0.93[ASN][1000 genomes]
rs889516	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	41 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	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
9	nsv995083	chr16:81050917-81076406	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	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
11	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv1802804	chr16:81061827-81070110	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv1838483	chr16:81061827-81070110	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv1841728	chr16:81061827-81070110	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81041800-81069000	Weak transcription	Ovary	ovary
2	chr16:81041800-81069000	Weak transcription	Small Intestine	intestine
3	chr16:81042000-81069000	Weak transcription	Esophagus	oesophagus
4	chr16:81042000-81069000	Weak transcription	Pancreas	Pancrea
5	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:81042200-81068800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:81042200-81069000	Weak transcription	Colonic Mucosa	Colon
8	chr16:81042200-81069600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:81042400-81069000	Weak transcription	Brain Germinal Matrix	brain
10	chr16:81042400-81069000	Weak transcription	Fetal Heart	heart
11	chr16:81047800-81069000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:81048400-81069000	Weak transcription	Fetal Kidney	kidney
13	chr16:81048600-81069000	Weak transcription	Fetal Brain Female	brain
14	chr16:81049000-81069000	Weak transcription	Right Ventricle	heart
15	chr16:81050200-81069000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:81050600-81069000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:81053000-81069400	Weak transcription	Aorta	Aorta
18	chr16:81053400-81068800	Weak transcription	Brain Angular Gyrus	brain
19	chr16:81053600-81069000	Weak transcription	Brain Anterior Caudate	brain
20	chr16:81053800-81068800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:81054000-81068800	Weak transcription	Brain Substantia Nigra	brain
22	chr16:81054200-81069000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr16:81055200-81068800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:81055200-81069400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:81055200-81069600	Weak transcription	Spleen	Spleen
26	chr16:81055400-81069000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr16:81055400-81069200	Weak transcription	NHLF	lung
28	chr16:81055600-81069000	Weak transcription	Lung	lung
29	chr16:81055600-81069400	Weak transcription	Gastric	stomach
30	chr16:81055600-81069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:81055800-81069000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr16:81055800-81069400	Weak transcription	Left Ventricle	heart
33	chr16:81055800-81069600	Weak transcription	HSMMtube	muscle
34	chr16:81056200-81069600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:81056600-81068800	Weak transcription	Brain Hippocampus Middle	brain
36	chr16:81057000-81069000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr16:81057000-81069000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr16:81057000-81069600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:81057200-81069000	Weak transcription	Primary B cells from cord blood	blood
40	chr16:81057600-81069400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:81057800-81069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:81058200-81069000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:81061000-81069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr16:81061200-81069000	Weak transcription	Fetal Lung	lung
45	chr16:81061400-81068800	Weak transcription	Fetal Intestine Small	intestine
46	chr16:81061600-81069000	Weak transcription	Fetal Muscle Leg	muscle
47	chr16:81062200-81069200	Weak transcription	HSMM	muscle
48	chr16:81062600-81069000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:81062600-81069000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:81062600-81069000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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