Variant report

Variant	rs10021864
Chromosome Location	chr4:22446340-22446341
allele	A/C
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	chr4:22446087-22446384	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GPR125	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10000829	1.00[EUR][1000 genomes]
rs10004678	1.00[EUR][1000 genomes]
rs10006549	1.00[EUR][1000 genomes]
rs10012247	1.00[EUR][1000 genomes]
rs10013414	1.00[EUR][1000 genomes]
rs10013902	1.00[EUR][1000 genomes]
rs10017087	1.00[EUR][1000 genomes]
rs10019604	1.00[EUR][1000 genomes]
rs10029008	1.00[EUR][1000 genomes]
rs10029089	1.00[EUR][1000 genomes]
rs10029265	1.00[EUR][1000 genomes]
rs16872671	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28414141	1.00[EUR][1000 genomes]
rs28426972	1.00[EUR][1000 genomes]
rs28490882	1.00[EUR][1000 genomes]
rs28501220	1.00[EUR][1000 genomes]
rs28518171	1.00[EUR][1000 genomes]
rs28521540	1.00[EUR][1000 genomes]
rs28542982	1.00[EUR][1000 genomes]
rs28591328	1.00[EUR][1000 genomes]
rs28645358	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28660699	1.00[EUR][1000 genomes]
rs28667991	1.00[EUR][1000 genomes]
rs28698249	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28703830	1.00[EUR][1000 genomes]
rs28729399	1.00[EUR][1000 genomes]
rs28775576	1.00[EUR][1000 genomes]
rs28787887	1.00[EUR][1000 genomes]
rs28798753	1.00[EUR][1000 genomes]
rs28839846	1.00[EUR][1000 genomes]
rs28882371	1.00[EUR][1000 genomes]
rs6448148	1.00[EUR][1000 genomes]
rs6836362	1.00[EUR][1000 genomes]
rs6840912	1.00[EUR][1000 genomes]
rs6846776	1.00[EUR][1000 genomes]
rs7657782	1.00[EUR][1000 genomes]
rs7662891	1.00[EUR][1000 genomes]
rs7693660	1.00[EUR][1000 genomes]
rs9654097	1.00[EUR][1000 genomes]
rs980589	1.00[EUR][1000 genomes]
rs9992606	1.00[EUR][1000 genomes]
rs9993875	1.00[EUR][1000 genomes]
rs9995752	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:22386000-22446600	Weak transcription	Fetal Thymus	thymus
3	chr4:22388400-22473600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:22388800-22469600	Weak transcription	Colonic Mucosa	Colon
5	chr4:22389200-22473600	Weak transcription	Fetal Brain Male	brain
6	chr4:22390600-22456200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:22390600-22459800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:22393600-22459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:22393800-22446400	Weak transcription	NH-A	brain
10	chr4:22393800-22453000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:22400000-22448000	Weak transcription	Left Ventricle	heart
12	chr4:22400800-22449600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:22400800-22461800	Weak transcription	Gastric	stomach
14	chr4:22416800-22449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:22419200-22476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:22419400-22465800	Weak transcription	HUVEC	blood vessel
17	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
18	chr4:22422000-22453400	Weak transcription	Esophagus	oesophagus
19	chr4:22424400-22457800	Weak transcription	Dnd41	blood
20	chr4:22424600-22448000	Weak transcription	Fetal Kidney	kidney
21	chr4:22426000-22461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:22428600-22460600	Weak transcription	Placenta	Placenta
23	chr4:22429400-22457800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:22429600-22446600	Weak transcription	HSMMtube	muscle
25	chr4:22430600-22456000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:22432400-22451400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:22432400-22460400	Weak transcription	Small Intestine	intestine
28	chr4:22433800-22479200	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:22434000-22461200	Weak transcription	Brain Anterior Caudate	brain
30	chr4:22434800-22456000	Weak transcription	Brain Substantia Nigra	brain
31	chr4:22436800-22456200	Weak transcription	NHEK	skin
32	chr4:22437400-22476400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:22437800-22447800	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:22437800-22453400	Weak transcription	Fetal Heart	heart
35	chr4:22437800-22459600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:22437800-22465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:22438400-22448000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:22439200-22451800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:22439200-22458000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:22439600-22450600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:22439800-22446600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:22441800-22452000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:22442200-22448000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:22442400-22450200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:22442400-22450200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:22442600-22448400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:22442800-22446800	Strong transcription	Fetal Lung	lung
48	chr4:22442800-22448000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:22442800-22448600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:22442800-22448600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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