Variant report

Variant	rs388261
Chromosome Location	chr5:92922428-92922429
allele	G/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	POLR2A	chr5:92921396-92922629	H1-neurons	neurons:	n/a	n/a
2	CHD1	chr5:92912776-92927520	IMR90	lung:	n/a	chr5:92914877-92914887 chr5:92926304-92926314 chr5:92917311-92917321 chr5:92918655-92918665 chr5:92918684-92918694 chr5:92920697-92920707 chr5:92920384-92920394 chr5:92915468-92915478 chr5:92917327-92917337 chr5:92920376-92920386

Variant related genes	Relation type
NR2F1	TF binding region
NR2F1-AS1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11739080	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs13159575	1.00[TSI][hapmap]
rs188809	1.00[CHD][hapmap];1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv1819334	chr5:92892591-92956733	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv882383	chr5:92895401-92928346	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv4918	chr5:92898426-92943359	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1794960	chr5:92919821-92932305	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1837322	chr5:92919821-92933747	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv598949	chr5:92920115-92922781	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92913800-92923200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:92914000-92925800	Active TSS	Brain Angular Gyrus	brain
3	chr5:92914200-92926200	Active TSS	Fetal Brain Female	brain
4	chr5:92914400-92922800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:92914600-92924600	Active TSS	HSMM	muscle
6	chr5:92914600-92924800	Active TSS	Right Atrium	heart
7	chr5:92914800-92923200	Active TSS	Ovary	ovary
8	chr5:92914800-92926000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:92915200-92923200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:92915200-92923600	Active TSS	NH-A	brain
11	chr5:92916200-92927600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr5:92916400-92923200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr5:92916400-92923400	Active TSS	Stomach Smooth Muscle	stomach
14	chr5:92916400-92925200	Active TSS	Brain Substantia Nigra	brain
15	chr5:92918000-92925000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:92918400-92922600	Active TSS	Hela-S3	cervix
17	chr5:92919000-92923400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:92919800-92925400	Active TSS	Brain Germinal Matrix	brain
19	chr5:92920600-92924600	Active TSS	Fetal Kidney	kidney
20	chr5:92920800-92929400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:92921000-92923200	Bivalent/Poised TSS	Fetal Stomach	stomach
22	chr5:92921000-92925400	Bivalent/Poised TSS	Fetal Lung	lung
23	chr5:92921000-92927800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:92921600-92923000	Flanking Active TSS	HUVEC	blood vessel
25	chr5:92921800-92922600	Flanking Active TSS	Osteobl	bone
26	chr5:92921800-92922800	Bivalent/Poised TSS	Fetal Brain Male	brain
27	chr5:92922000-92922800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:92922000-92923200	Active TSS	Brain Hippocampus Middle	brain
29	chr5:92922000-92923200	Weak transcription	Lung	lung
30	chr5:92922000-92923200	Active TSS	HepG2	liver
31	chr5:92922000-92923400	Weak transcription	Gastric	stomach
32	chr5:92922000-92923400	Weak transcription	Pancreas	Pancrea
33	chr5:92922000-92925000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr5:92922200-92922800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:92922200-92923000	Active TSS	Placenta	Placenta
36	chr5:92922200-92923400	Active TSS	Brain Anterior Caudate	brain
37	chr5:92922200-92923400	Active TSS	NHLF	lung
38	chr5:92922200-92923600	Weak transcription	HMEC	breast
39	chr5:92922200-92924600	Active TSS	Brain Cingulate Gyrus	brain
40	chr5:92922200-92931400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:92922200-92934200	Weak transcription	HSMMtube	muscle
42	chr5:92922400-92922600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:92922400-92922800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:92922400-92922800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr5:92922400-92922800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr5:92922400-92923400	Weak transcription	Spleen	Spleen

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