Variant report

Variant	rs11641230
Chromosome Location	chr16:65158594-65158595
allele	A/G
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	chr16:65158336-65158715	ProgFib	skin:	n/a	n/a
2	POLR2A	chr16:65153328-65158908	SK-N-MC	brain:	n/a	n/a
3	IKZF1	chr16:65158509-65158701	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:65158466-65158919	HUVEC	blood vessel:	n/a	n/a
5	CHD1	chr16:65152687-65158782	IMR90	lung:	n/a	chr16:65156166-65156176 chr16:65155683-65155693 chr16:65156605-65156615
6	POLR2A	chr16:65158496-65158875	HepG2	liver:	n/a	n/a
7	ZBTB33	chr16:65158583-65158766	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:65152756-65159285	IMR90	lung:	n/a	n/a
9	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
10	POLR2A	chr16:65158577-65158637	MCF10A-Er-Src	breast:	n/a	n/a
11	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: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12931204	0.86[AMR][1000 genomes];0.90[EUR][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:40 , 50 per page) page: 1

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	chr16:65154000-65158800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr16:65154200-65158800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr16:65154400-65159800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr16:65155600-65160000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:65156800-65158600	Bivalent/Poised TSS	Fetal Lung	lung
10	chr16:65157600-65159000	Flanking Active TSS	NH-A	brain
11	chr16:65157800-65158600	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr16:65157800-65160000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:65158000-65158800	Active TSS	Placenta	Placenta
14	chr16:65158000-65158800	Active TSS	Fetal Stomach	stomach
15	chr16:65158000-65158800	Flanking Active TSS	Osteobl	bone
16	chr16:65158000-65159000	Flanking Active TSS	NHDF-Ad	bronchial
17	chr16:65158200-65158600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:65158200-65158600	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr16:65158200-65158800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:65158200-65158800	Enhancers	Colon Smooth Muscle	Colon
21	chr16:65158200-65159000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
22	chr16:65158200-65159000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr16:65158200-65159200	Enhancers	Fetal Brain Female	brain
24	chr16:65158200-65159600	Weak transcription	HMEC	breast
25	chr16:65158200-65160200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:65158400-65158600	Enhancers	Brain Hippocampus Middle	brain
27	chr16:65158400-65158600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr16:65158400-65158600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
29	chr16:65158400-65158600	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr16:65158400-65158600	Active TSS	NHLF	lung
31	chr16:65158400-65158800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:65158400-65158800	Weak transcription	Brain Anterior Caudate	brain
33	chr16:65158400-65158800	Enhancers	Rectal Smooth Muscle	rectum
34	chr16:65158400-65158800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr16:65158400-65159400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:65158400-65159400	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr16:65158400-65159600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:65158400-65159600	Weak transcription	Spleen	Spleen
39	chr16:65158400-65160400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr16:65158400-65160400	Enhancers	Rectal Mucosa Donor 31	rectum

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