Variant report

Variant	rs28775576
Chromosome Location	chr4:22474782-22474783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22466142..22467676-chr4:22473054..22475391,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10000829	1.00[EUR][1000 genomes]
rs10004678	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10021864	1.00[EUR][1000 genomes]
rs10029008	1.00[EUR][1000 genomes]
rs10029089	1.00[EUR][1000 genomes]
rs10029265	1.00[EUR][1000 genomes]
rs10938900	1.00[AMR][1000 genomes]
rs11944057	1.00[EUR][1000 genomes]
rs28414141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28426972	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28645358	1.00[EUR][1000 genomes]
rs28660699	1.00[EUR][1000 genomes]
rs28667991	1.00[EUR][1000 genomes]
rs28698249	1.00[EUR][1000 genomes]
rs28703830	1.00[EUR][1000 genomes]
rs28729399	1.00[EUR][1000 genomes]
rs28787887	1.00[EUR][1000 genomes]
rs28798753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28839846	1.00[EUR][1000 genomes]
rs28882371	1.00[EUR][1000 genomes]
rs34198330	1.00[EUR][1000 genomes]
rs6448148	1.00[EUR][1000 genomes]
rs6836362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6840912	1.00[EUR][1000 genomes]
rs6846776	1.00[EUR][1000 genomes]
rs73123531	1.00[EUR][1000 genomes]
rs73123532	1.00[EUR][1000 genomes]
rs73123536	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9993875	1.00[EUR][1000 genomes]
rs9995752	1.00[AMR][1000 genomes];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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22419200-22476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
3	chr4:22433800-22479200	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:22437400-22476400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:22443600-22476200	Weak transcription	A549	lung
6	chr4:22447200-22475000	Weak transcription	NHLF	lung
7	chr4:22450400-22474800	Weak transcription	Adipose Nuclei	Adipose
8	chr4:22450400-22476000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:22450400-22484000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:22450400-22493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:22456400-22476200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:22456800-22476000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:22456800-22479000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:22456800-22485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:22462000-22493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:22462400-22483600	Weak transcription	Liver	Liver
17	chr4:22462600-22476200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:22462600-22478400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:22465400-22476200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:22466400-22477600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:22466600-22484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:22469200-22476200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:22469400-22475200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:22470000-22474800	Weak transcription	Right Atrium	heart
25	chr4:22471000-22475200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:22471400-22475000	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr4:22472200-22480200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:22472400-22475000	Enhancers	Left Ventricle	heart
29	chr4:22472400-22475200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:22472400-22476000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:22472600-22474800	Weak transcription	Lung	lung
32	chr4:22472600-22475000	Strong transcription	Primary T cells from cord blood	blood
33	chr4:22472600-22475000	Enhancers	Fetal Intestine Large	intestine
34	chr4:22472600-22476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:22472600-22477200	Enhancers	HMEC	breast
36	chr4:22472600-22484200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:22472600-22484400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:22472600-22486200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:22472800-22477000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:22472800-22482400	Weak transcription	Ovary	ovary
41	chr4:22473000-22482400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:22473200-22475200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:22473200-22476000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:22473200-22487400	Weak transcription	Right Ventricle	heart
45	chr4:22473400-22475200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:22473400-22476200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:22473400-22476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:22473400-22484400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:22473600-22475000	Genic enhancers	HSMM	muscle
50	chr4:22473600-22475200	Enhancers	Stomach Mucosa	stomach

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