Variant report

Variant	rs62432035
Chromosome Location	chr6:118227725-118227726
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	EBF1	chr6:118227614-118228033	GM12878	blood:	n/a	chr6:118227759-118227770
2	RUNX3	chr6:118227655-118227944	GM12878	blood:	n/a	n/a
3	WRNIP1	chr6:118227694-118227745	GM12878	blood:	n/a	n/a
4	KAP1	chr6:118227562-118228286	HEK293	kidney:	n/a	n/a
5	REST	chr6:118227583-118228435	PFSK-1	brain:	n/a	chr6:118228087-118228100 chr6:118227707-118227715 chr6:118228087-118228096 chr6:118228100-118228114
6	REST	chr6:118227712-118229252	ECC-1	luminal epithelium:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
7	EBF1	chr6:118227577-118228067	GM12878	blood:	n/a	chr6:118227759-118227770
8	EBF1	chr6:118227492-118228307	GM12878	blood:	n/a	chr6:118227759-118227770
9	REST	chr6:118227623-118228464	PFSK-1	brain:	n/a	chr6:118228087-118228100 chr6:118227707-118227715 chr6:118228087-118228096 chr6:118228100-118228114
10	REST	chr6:118227619-118228510	ECC-1	luminal epithelium:	n/a	chr6:118228087-118228100 chr6:118227707-118227715 chr6:118228087-118228096 chr6:118228100-118228114
11	RCOR1	chr6:118227716-118228458	IMR90	lung:	n/a	n/a
12	BCL11A	chr6:118227602-118227933	GM12878	blood:	n/a	chr6:118227708-118227716 chr6:118227675-118227684
13	REST	chr6:118227646-118228489	A549	lung:	n/a	chr6:118228087-118228100 chr6:118227707-118227715 chr6:118228087-118228096 chr6:118228100-118228114
14	KAP1	chr6:118227630-118228276	U2OS	brain:	n/a	n/a
15	EP300	chr6:118227683-118228022	GM12878	blood:	n/a	n/a
16	REST	chr6:118227381-118228844	HL-60	blood:	n/a	chr6:118228087-118228100 chr6:118227707-118227715 chr6:118228087-118228096 chr6:118228100-118228114
17	REST	chr6:118227649-118230270	H1-neurons	neurons:	n/a	chr6:118228087-118228100 chr6:118227707-118227715 chr6:118228087-118228096 chr6:118228100-118228114

Variant related genes	Relation type
SLC35F1	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]
rs62432028	1.00[AFR][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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3414441	chr6:118227509-118229957	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118226800-118228000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:118227400-118227800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:118227400-118227800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:118227400-118227800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:118227400-118228200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:118227400-118230200	Active TSS	Brain Angular Gyrus	brain
7	chr6:118227400-118230400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:118227600-118227800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr6:118227600-118227800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:118227600-118227800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
11	chr6:118227600-118227800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:118227600-118227800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr6:118227600-118227800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:118227600-118227800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr6:118227600-118227800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:118227600-118227800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:118227600-118227800	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr6:118227600-118227800	Active TSS	Brain Substantia Nigra	brain
19	chr6:118227600-118227800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
20	chr6:118227600-118227800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
21	chr6:118227600-118227800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:118227600-118227800	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr6:118227600-118227800	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr6:118227600-118227800	Bivalent Enhancer	Fetal Lung	lung
25	chr6:118227600-118227800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr6:118227600-118227800	Bivalent Enhancer	HepG2	liver
27	chr6:118227600-118227800	Bivalent Enhancer	Osteobl	bone
28	chr6:118227600-118228000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:118227600-118228000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr6:118227600-118228000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr6:118227600-118228000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr6:118227600-118228000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr6:118227600-118228000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:118227600-118228000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr6:118227600-118228000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:118227600-118228000	Enhancers	Colonic Mucosa	Colon
37	chr6:118227600-118228200	Active TSS	Fetal Brain Male	brain
38	chr6:118227600-118228200	Bivalent Enhancer	Fetal Heart	heart
39	chr6:118227600-118228800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr6:118227600-118228800	Active TSS	Stomach Smooth Muscle	stomach
41	chr6:118227600-118229000	Bivalent Enhancer	Liver	Liver
42	chr6:118227600-118229000	Active TSS	Brain Germinal Matrix	brain
43	chr6:118227600-118229400	Active TSS	Fetal Brain Female	brain
44	chr6:118227600-118229600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
45	chr6:118227600-118230000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr6:118227600-118230000	Active TSS	Pancreatic Islets	Pancreatic Islet

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