Variant report

Variant	rs58642793
Chromosome Location	chr21:16438962-16438963
allele	C/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	IRF1	chr21:16438013-16439143	K562	blood:	n/a	chr21:16438915-16438925 chr21:16438366-16438377 chr21:16438915-16438926 chr21:16438913-16438926 chr21:16438909-16438930 chr21:16438913-16438926 chr21:16438911-16438925 chr21:16438913-16438926 chr21:16438914-16438931 chr21:16438367-16438381 chr21:16438912-16438926 chr21:16438916-16438927
2	ZMIZ1	chr21:16438763-16439005	K562	blood:	n/a	n/a
3	STAT3	chr21:16438474-16439085	GM12878	blood:	n/a	chr21:16438915-16438926
4	IRF1	chr21:16438638-16439066	K562	blood:	n/a	chr21:16438915-16438925 chr21:16438915-16438926 chr21:16438913-16438926 chr21:16438909-16438930 chr21:16438913-16438926 chr21:16438911-16438925 chr21:16438913-16438926 chr21:16438914-16438931 chr21:16438912-16438926 chr21:16438916-16438927
5	IRF1	chr21:16438003-16439135	K562	blood:	n/a	chr21:16438915-16438925 chr21:16438366-16438377 chr21:16438915-16438926 chr21:16438913-16438926 chr21:16438909-16438930 chr21:16438913-16438926 chr21:16438911-16438925 chr21:16438913-16438926 chr21:16438914-16438931 chr21:16438367-16438381 chr21:16438912-16438926 chr21:16438916-16438927

No.	Distal block	Cell Line	Cell type
1	chr21:16349007..16350759-chr21:16437811..16439323,2	K562	blood:
2	chr21:16437341..16439300-chr21:16535726..16538232,3	MCF-7	breast:
3	chr21:16348130..16350759-chr21:16437449..16439323,2	K562	blood:
4	chr21:16437453..16439202-chr21:16715691..16717267,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236471	TF binding region
NRIP1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1997576	0.85[ASN][1000 genomes]
rs2142220	0.85[ASN][1000 genomes]
rs2142221	0.85[ASN][1000 genomes]
rs2205238	0.82[ASN][1000 genomes]
rs2205239	0.84[ASN][1000 genomes]
rs2253879	0.86[ASN][1000 genomes]
rs2254152	0.86[ASN][1000 genomes]
rs2254269	0.87[ASN][1000 genomes]
rs2254956	0.85[ASN][1000 genomes]
rs2403876	0.86[ASN][1000 genomes]
rs2776045	0.86[ASN][1000 genomes]
rs2823032	0.86[ASN][1000 genomes]
rs8134191	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3428786	chr21:16436131-16439129	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16429000-16439200	Active TSS	A549	lung
2	chr21:16432800-16439000	Active TSS	GM12878-XiMat	blood
3	chr21:16433000-16439200	Active TSS	Right Atrium	heart
4	chr21:16433400-16439000	Active TSS	Psoas Muscle	Psoas
5	chr21:16433800-16439000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:16433800-16439000	Active TSS	HSMM	muscle
7	chr21:16434200-16439000	Active TSS	Rectal Smooth Muscle	rectum
8	chr21:16434400-16439000	Active TSS	Colonic Mucosa	Colon
9	chr21:16434400-16439000	Active TSS	Right Ventricle	heart
10	chr21:16434600-16439000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:16434600-16439000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr21:16434600-16439000	Active TSS	Fetal Intestine Large	intestine
13	chr21:16434800-16439000	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr21:16434800-16439000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:16434800-16439000	Active TSS	Fetal Intestine Small	intestine
16	chr21:16434800-16439200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr21:16434800-16439200	Active TSS	HMEC	breast
18	chr21:16434800-16439400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:16435000-16439000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr21:16435000-16439000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:16435000-16439000	Active TSS	Fetal Kidney	kidney
22	chr21:16435000-16439000	Active TSS	Fetal Stomach	stomach
23	chr21:16435000-16439000	Active TSS	Ovary	ovary
24	chr21:16435000-16439000	Active TSS	HSMMtube	muscle
25	chr21:16435000-16439200	Active TSS	Stomach Smooth Muscle	stomach
26	chr21:16435000-16439200	Active TSS	NHDF-Ad	bronchial
27	chr21:16435200-16439000	Active TSS	Fetal Muscle Trunk	muscle
28	chr21:16435200-16439000	Active TSS	Osteobl	bone
29	chr21:16435200-16439200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr21:16435200-16439200	Active TSS	NHLF	lung
31	chr21:16435400-16439000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:16435400-16439200	Active TSS	Liver	Liver
33	chr21:16435600-16439000	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr21:16435600-16439200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:16435600-16439200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr21:16435600-16439200	Active TSS	Colon Smooth Muscle	Colon
37	chr21:16435600-16439200	Active TSS	NHEK	skin
38	chr21:16435800-16439000	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr21:16435800-16439200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:16435800-16439200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr21:16436000-16439000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr21:16436000-16439000	Active TSS	Aorta	Aorta
43	chr21:16436000-16439000	Active TSS	Brain Substantia Nigra	brain
44	chr21:16436000-16439000	Active TSS	Fetal Brain Female	brain
45	chr21:16436000-16439000	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr21:16436000-16439200	Active TSS	Duodenum Mucosa	Duodenum
47	chr21:16436200-16439000	Active TSS	Brain Angular Gyrus	brain
48	chr21:16436200-16439000	Active TSS	Brain Cingulate Gyrus	brain
49	chr21:16436200-16439000	Active TSS	Brain Hippocampus Middle	brain
50	chr21:16436200-16439000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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