Variant report

Variant	rs387097
Chromosome Location	chr21:46556804-46556805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46492190..46501097-chr21:46553481..46562048,38	K562	blood:
2	chr21:46370881..46371402-chr21:46556771..46557622,2	MCF-7	breast:
3	chr21:46220183..46220714-chr21:46556779..46557402,2	MCF-7	breast:
4	chr21:46556762..46557633-chr21:46898156..46898795,2	K562	blood:
5	chr21:46552512..46554278-chr21:46555488..46557400,3	MCF-7	breast:
6	chr21:46376597..46379233-chr21:46555743..46557641,2	K562	blood:
7	chr21:46312837..46313337-chr21:46556640..46557461,2	MCF-7	breast:
8	chr21:46372382..46374637-chr21:46555803..46558629,2	K562	blood:
9	chr21:46546584..46551511-chr21:46553581..46558677,4	K562	blood:
10	chr21:46495902..46496885-chr21:46556392..46557286,2	K562	blood:
11	chr21:46367892..46370514-chr21:46556035..46557918,2	K562	blood:
12	chr21:46556578..46559478-chr21:46562183..46565396,3	MCF-7	breast:
13	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
14	chr21:46548264..46550888-chr21:46555243..46558018,2	MCF-7	breast:
15	chr21:46345835..46349084-chr21:46555674..46558816,3	MCF-7	breast:
16	chr21:46369385..46370766-chr21:46556658..46557681,11	K562	blood:
17	chr21:46493470..46497016-chr21:46556393..46558721,5	MCF-7	breast:
18	chr21:46555863..46558704-chr21:46711445..46713394,2	MCF-7	breast:
19	chr21:46554988..46557128-chr21:46559277..46561746,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160256	Chromatin interaction
ENSG00000223768	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17004733	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs17004742	0.80[YRI][hapmap]
rs2104812	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs2236702	0.84[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3788152	0.92[CEU][hapmap]
rs58468220	0.81[ASN][1000 genomes]
rs7275998	1.00[CEU][hapmap]
rs729895	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs872768	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap]

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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs387097	C21orf122	cis	multi-tissue	Pritchard
rs387097	SSR4P1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46532600-46570600	Weak transcription	Dnd41	blood
2	chr21:46544200-46558200	Weak transcription	HepG2	liver
3	chr21:46544200-46560400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr21:46548800-46558400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr21:46549800-46557200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr21:46549800-46559400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:46549800-46567600	Weak transcription	Gastric	stomach
9	chr21:46550000-46567800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr21:46550400-46571200	Weak transcription	Brain Germinal Matrix	brain
11	chr21:46550800-46563600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:46551000-46562400	Weak transcription	HMEC	breast
13	chr21:46551200-46557000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr21:46551200-46557000	Strong transcription	Hela-S3	cervix
15	chr21:46551200-46557400	Weak transcription	Fetal Intestine Large	intestine
16	chr21:46551400-46567400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:46551600-46557200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr21:46551600-46557400	Weak transcription	Colonic Mucosa	Colon
19	chr21:46551600-46562400	Weak transcription	Brain Angular Gyrus	brain
20	chr21:46551600-46562600	Genic enhancers	HSMM	muscle
21	chr21:46551800-46565400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:46553400-46557200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr21:46553400-46558600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:46553400-46561600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:46553400-46568600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr21:46553400-46570600	Weak transcription	Esophagus	oesophagus
27	chr21:46553400-46574600	Weak transcription	Fetal Heart	heart
28	chr21:46553600-46557200	Weak transcription	Brain Anterior Caudate	brain
29	chr21:46553600-46558800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr21:46553600-46562600	Weak transcription	Placenta	Placenta
31	chr21:46553600-46563000	Weak transcription	Lung	lung
32	chr21:46553800-46561800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:46554200-46557000	Enhancers	Psoas Muscle	Psoas
34	chr21:46554200-46557400	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr21:46554400-46557600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr21:46554600-46557800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:46554800-46558600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr21:46554800-46559200	Strong transcription	Primary B cells from cord blood	blood
39	chr21:46554800-46564600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr21:46555200-46557000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:46555200-46558000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:46555200-46558200	Weak transcription	Adipose Nuclei	Adipose
43	chr21:46555200-46558600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr21:46555200-46574600	Weak transcription	Right Atrium	heart
45	chr21:46555400-46557000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr21:46555400-46557400	Weak transcription	Fetal Intestine Small	intestine
47	chr21:46555400-46558000	Weak transcription	NHEK	skin
48	chr21:46555400-46562400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr21:46555400-46562400	Weak transcription	Left Ventricle	heart
50	chr21:46555400-46562400	Weak transcription	Right Ventricle	heart

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