Variant report

Variant	rs34055956
Chromosome Location	chr16:65158106-65158107
allele	AT/GC
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	POLR2A	chr16:65153328-65158908	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr16:65155441-65158226	ProgFib	skin:	n/a	n/a
3	CHD1	chr16:65152687-65158782	IMR90	lung:	n/a	chr16:65156166-65156176 chr16:65155683-65155693 chr16:65156605-65156615
4	POLR2A	chr16:65152756-65159285	IMR90	lung:	n/a	n/a
5	CTCF	chr16:65158000-65158150	NHLF	lung:	n/a	n/a
6	MAZ	chr16:65153355-65158656	IMR90	lung:	n/a	chr16:65158234-65158244 chr16:65158234-65158244 chr16:65156222-65156231 chr16:65158230-65158245 chr16:65158232-65158245 chr16:65158235-65158244 chr16:65158233-65158244
7	EP300	chr16:65157993-65158146	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:65157883-65158961	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
CDH11	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62044963	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62044964	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6498980	0.93[ASN][1000 genomes]
rs7196224	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv34131	chr16:65137094-65379496	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65152000-65159400	Active TSS	Ovary	ovary
2	chr16:65153200-65158600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:65153200-65158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:65153400-65158600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr16:65153800-65158200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:65153800-65158200	Active TSS	Brain Cingulate Gyrus	brain
7	chr16:65153800-65158400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:65154000-65158400	Active TSS	Brain Anterior Caudate	brain
9	chr16:65154000-65158400	Active TSS	Brain Hippocampus Middle	brain
10	chr16:65154000-65158800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr16:65154200-65158200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:65154200-65158200	Active TSS	Rectal Smooth Muscle	rectum
13	chr16:65154200-65158400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr16:65154200-65158400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr16:65154200-65158800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr16:65154400-65159800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr16:65155600-65160000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:65156200-65158200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr16:65156600-65158200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr16:65156800-65158200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr16:65156800-65158600	Bivalent/Poised TSS	Fetal Lung	lung
22	chr16:65157200-65158200	Active TSS	Lung	lung
23	chr16:65157600-65158200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:65157600-65158200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr16:65157600-65158200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:65157600-65158200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr16:65157600-65158200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr16:65157600-65158400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr16:65157600-65159000	Flanking Active TSS	NH-A	brain
30	chr16:65157800-65158200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr16:65157800-65158200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:65157800-65158200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
33	chr16:65157800-65158200	Flanking Active TSS	Fetal Brain Female	brain
34	chr16:65157800-65158200	Bivalent/Poised TSS	Fetal Kidney	kidney
35	chr16:65157800-65158200	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr16:65157800-65158400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:65157800-65158400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr16:65157800-65158400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr16:65157800-65158400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
40	chr16:65157800-65158600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr16:65157800-65160000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:65158000-65158200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr16:65158000-65158200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:65158000-65158200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr16:65158000-65158200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:65158000-65158200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:65158000-65158200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:65158000-65158200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:65158000-65158200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr16:65158000-65158200	Active TSS	Brain Substantia Nigra	brain

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