Variant report

Variant	rs181152
Chromosome Location	chr16:12185608-12185609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr16:12185519-12185886	K562	blood:	n/a	chr16:12185685-12185700
2	BACH1	chr16:12185512-12185901	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr16:12185580-12185878	HepG2	liver:	n/a	chr16:12185685-12185700
4	EP300	chr16:12185603-12185788	K562	blood:	n/a	n/a
5	MAFF	chr16:12185508-12185873	K562	blood:	n/a	chr16:12185683-12185701
6	FOXA2	chr16:12185557-12185836	HepG2	liver:	n/a	n/a
7	MAFF	chr16:12185574-12185871	HepG2	liver:	n/a	chr16:12185683-12185701
8	BACH1	chr16:12185551-12185876	K562	blood:	n/a	n/a
9	ZNF384	chr16:12185435-12185854	K562	blood:	n/a	n/a
10	MAFK	chr16:12185524-12185872	HepG2	liver:	n/a	chr16:12185685-12185700

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12183674..12186424-chr16:12186757..12189168,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175604	TF binding region
ENSG00000261293	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs350233	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs350234	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs350246	0.86[ASN][1000 genomes]
rs350250	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv977111	chr16:12161129-12220593	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1039492	chr16:12176517-12210702	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv571460	chr16:12181702-12238602	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12142800-12189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:12156000-12185800	Weak transcription	Brain Germinal Matrix	brain
3	chr16:12156000-12185800	Weak transcription	Fetal Brain Female	brain
4	chr16:12157200-12185800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:12157800-12185800	Weak transcription	HSMMtube	muscle
6	chr16:12167600-12185800	Weak transcription	HSMM	muscle
7	chr16:12178600-12199600	Weak transcription	Aorta	Aorta
8	chr16:12182200-12188600	Weak transcription	Fetal Brain Male	brain
9	chr16:12183200-12186200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:12183800-12185800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:12183800-12185800	Weak transcription	NHLF	lung
12	chr16:12183800-12186000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:12183800-12186000	Weak transcription	Fetal Heart	heart
14	chr16:12183800-12186000	Weak transcription	GM12878-XiMat	blood
15	chr16:12183800-12189200	Weak transcription	Pancreas	Pancrea
16	chr16:12184000-12185800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:12184000-12185800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:12184000-12185800	Weak transcription	Brain Anterior Caudate	brain
19	chr16:12184000-12185800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:12184000-12185800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:12184000-12185800	Weak transcription	Brain Substantia Nigra	brain
22	chr16:12184000-12185800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:12184000-12185800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:12184000-12185800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:12184000-12186000	Weak transcription	Brain Angular Gyrus	brain
26	chr16:12184000-12189000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr16:12184000-12189200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:12184000-12189200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:12184000-12189200	Weak transcription	Liver	Liver
30	chr16:12184000-12189200	Weak transcription	Colon Smooth Muscle	Colon
31	chr16:12184000-12189200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr16:12184000-12189400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr16:12184000-12191600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:12184200-12185800	Weak transcription	Placenta	Placenta
35	chr16:12184200-12185800	Weak transcription	Right Ventricle	heart
36	chr16:12184200-12185800	Weak transcription	NH-A	brain
37	chr16:12184200-12185800	Weak transcription	Osteobl	bone
38	chr16:12184200-12186600	Weak transcription	Right Atrium	heart
39	chr16:12184200-12187000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:12184200-12189000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:12184200-12189000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr16:12184200-12189200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr16:12184200-12189200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:12184200-12189200	Weak transcription	Fetal Intestine Large	intestine
45	chr16:12184200-12190400	Enhancers	Thymus	Thymus
46	chr16:12184200-12192200	Weak transcription	Gastric	stomach
47	chr16:12184200-12193000	Enhancers	Fetal Thymus	thymus
48	chr16:12184400-12185800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr16:12184400-12185800	Weak transcription	Esophagus	oesophagus
50	chr16:12184400-12185800	Weak transcription	Fetal Muscle Leg	muscle

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