Variant report

Variant	rs787169
Chromosome Location	chr2:144693976-144693977
allele	C/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	CEBPB	chr2:144693909-144694106	A549	lung:	n/a	chr2:144694036-144694049 chr2:144694036-144694049 chr2:144694036-144694049
2	CEBPB	chr2:144693917-144694117	H1-hESC	embryonic stem cell:	n/a	chr2:144694036-144694049 chr2:144694036-144694049 chr2:144694036-144694049

Variant related genes	Relation type
ENSG00000232377	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16823381	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv875260	chr2:144675354-144703126	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv583247	chr2:144682018-144697113	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144689600-144694000	Enhancers	Fetal Kidney	kidney
2	chr2:144691200-144694000	Weak transcription	HSMM	muscle
3	chr2:144691200-144694200	Enhancers	Fetal Intestine Large	intestine
4	chr2:144691200-144694200	Enhancers	Fetal Intestine Small	intestine
5	chr2:144692200-144694000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr2:144692200-144695800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:144692400-144696200	Active TSS	Right Atrium	heart
8	chr2:144692600-144694200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:144692600-144695800	Active TSS	Ovary	ovary
10	chr2:144692800-144694000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr2:144692800-144694000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr2:144692800-144694000	Active TSS	Adipose Nuclei	Adipose
13	chr2:144692800-144694000	Enhancers	Fetal Brain Female	brain
14	chr2:144692800-144694400	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr2:144693000-144694000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:144693000-144695800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:144693200-144694000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:144693400-144694000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr2:144693400-144694000	Flanking Active TSS	NHDF-Ad	bronchial
20	chr2:144693400-144694400	Flanking Active TSS	NHLF	lung
21	chr2:144693400-144694800	Flanking Active TSS	Fetal Brain Male	brain
22	chr2:144693400-144696000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:144693600-144694000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr2:144693600-144694000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr2:144693600-144694000	Active TSS	Duodenum Mucosa	Duodenum
26	chr2:144693600-144694000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:144693600-144694200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:144693600-144694200	Enhancers	Pancreas	Pancrea
29	chr2:144693600-144694200	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr2:144693600-144694200	Active TSS	Stomach Smooth Muscle	stomach
31	chr2:144693600-144694400	Active TSS	Primary B cells from cord blood	blood
32	chr2:144693600-144694400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr2:144693600-144695400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
34	chr2:144693600-144695600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:144693600-144695600	Active TSS	Brain Cingulate Gyrus	brain
36	chr2:144693600-144696000	Active TSS	Brain Anterior Caudate	brain
37	chr2:144693800-144694000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:144693800-144694000	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr2:144693800-144694000	Enhancers	Brain Germinal Matrix	brain
40	chr2:144693800-144694000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr2:144693800-144694000	Bivalent Enhancer	Fetal Lung	lung
42	chr2:144693800-144694000	Active TSS	Fetal Muscle Leg	muscle
43	chr2:144693800-144694000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:144693800-144694200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:144693800-144694200	Flanking Active TSS	Fetal Stomach	stomach
46	chr2:144693800-144694400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr2:144693800-144694400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
48	chr2:144693800-144694400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
49	chr2:144693800-144695600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:144693800-144695600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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