Variant report

Variant	rs56029242
Chromosome Location	chr4:22473447-22473448
allele	C/G/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: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11932316	1.00[AMR][1000 genomes]
rs56383378	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56965161	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57310135	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58098085	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59383860	1.00[EUR][1000 genomes]
rs61574687	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61588486	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61793366	0.89[AFR][1000 genomes]
rs61793367	0.89[AFR][1000 genomes]
rs6812519	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73800932	1.00[EUR][1000 genomes]
rs73800934	1.00[EUR][1000 genomes]
rs73800935	1.00[EUR][1000 genomes]
rs73800940	1.00[EUR][1000 genomes]
rs73800946	1.00[EUR][1000 genomes]
rs73800949	1.00[EUR][1000 genomes]
rs73800956	1.00[EUR][1000 genomes]
rs73800958	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73800959	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73800963	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73800964	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73802816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802827	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73802829	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802831	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802832	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802835	1.00[AMR][1000 genomes]
rs73802836	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7666972	1.00[AFR][1000 genomes];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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22388400-22473600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:22389200-22473600	Weak transcription	Fetal Brain Male	brain
3	chr4:22419200-22476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
5	chr4:22433800-22479200	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:22437400-22476400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:22443400-22473600	Weak transcription	Fetal Brain Female	brain
8	chr4:22443600-22476200	Weak transcription	A549	lung
9	chr4:22443800-22474600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:22447200-22473800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:22447200-22475000	Weak transcription	NHLF	lung
12	chr4:22450200-22473800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:22450200-22473800	Weak transcription	NH-A	brain
14	chr4:22450400-22474800	Weak transcription	Adipose Nuclei	Adipose
15	chr4:22450400-22476000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:22450400-22484000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:22450400-22493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:22455600-22474200	Weak transcription	Fetal Thymus	thymus
19	chr4:22456400-22476200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:22456800-22476000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:22456800-22479000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:22456800-22485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:22457000-22473600	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:22457200-22473800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:22457600-22473600	Weak transcription	Fetal Lung	lung
26	chr4:22462000-22493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:22462400-22483600	Weak transcription	Liver	Liver
28	chr4:22462600-22476200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:22462600-22478400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:22465400-22476200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:22466400-22477600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:22466600-22484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:22469200-22476200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:22469400-22475200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:22470000-22473600	Weak transcription	HSMM	muscle
36	chr4:22470000-22474800	Weak transcription	Right Atrium	heart
37	chr4:22471000-22474200	Enhancers	Psoas Muscle	Psoas
38	chr4:22471000-22475200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:22471400-22475000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr4:22472200-22473600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:22472200-22474400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:22472200-22474600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:22472200-22480200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr4:22472400-22473600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:22472400-22473600	Enhancers	Pancreas	Pancrea
46	chr4:22472400-22474600	Genic enhancers	HepG2	liver
47	chr4:22472400-22475000	Enhancers	Left Ventricle	heart
48	chr4:22472400-22475200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:22472400-22476000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:22472600-22474800	Weak transcription	Lung	lung

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