Variant report

Variant	rs57928018
Chromosome Location	chr21:46570363-46570364
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46558139..46559799-chr21:46568659..46571204,2	K562	blood:
2	chr21:46550409..46551930-chr21:46569679..46571872,2	MCF-7	breast:
3	chr21:46403497..46405382-chr21:46569107..46570791,2	MCF-7	breast:
4	chr21:46565809..46567896-chr21:46568850..46571602,3	K562	blood:
5	chr21:46564488..46569324-chr21:46569592..46573280,6	K562	blood:
6	chr21:46560497..46564169-chr21:46565170..46570508,5	K562	blood:
7	chr21:46557269..46559639-chr21:46569704..46571719,2	K562	blood:
8	chr21:46568222..46571094-chr21:46923291..46926042,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182871	Chromatin interaction
ENSG00000173638	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1893561	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2104812	0.92[ASN][1000 genomes]
rs2236702	0.88[AMR][1000 genomes]
rs872768	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57928018	SSR4P1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46532600-46570600	Weak transcription	Dnd41	blood
2	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr21:46550400-46571200	Weak transcription	Brain Germinal Matrix	brain
4	chr21:46553400-46570600	Weak transcription	Esophagus	oesophagus
5	chr21:46553400-46574600	Weak transcription	Fetal Heart	heart
6	chr21:46555200-46574600	Weak transcription	Right Atrium	heart
7	chr21:46555600-46571600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr21:46555800-46570800	Weak transcription	Fetal Lung	lung
9	chr21:46555800-46571600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr21:46556600-46581000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr21:46557000-46571400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
14	chr21:46557400-46571600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr21:46557400-46577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:46557600-46573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr21:46557600-46582600	Weak transcription	Psoas Muscle	Psoas
18	chr21:46558600-46571400	Weak transcription	Colon Smooth Muscle	Colon
19	chr21:46558600-46588800	Weak transcription	Colonic Mucosa	Colon
20	chr21:46558800-46571800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr21:46558800-46571800	Weak transcription	Fetal Intestine Large	intestine
22	chr21:46560800-46578600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr21:46560800-46586400	Weak transcription	Liver	Liver
24	chr21:46561200-46571600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr21:46561400-46571600	Weak transcription	Thymus	Thymus
26	chr21:46561400-46576000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:46562800-46571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:46562800-46572600	Weak transcription	Brain Anterior Caudate	brain
29	chr21:46563000-46570600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
31	chr21:46563200-46570800	Weak transcription	Ovary	ovary
32	chr21:46563200-46571600	Weak transcription	NH-A	brain
33	chr21:46563200-46576600	Weak transcription	Brain Hippocampus Middle	brain
34	chr21:46563400-46570800	Weak transcription	NHLF	lung
35	chr21:46563600-46571600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr21:46563800-46571000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr21:46565200-46571600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr21:46565800-46571800	Weak transcription	Fetal Intestine Small	intestine
39	chr21:46566000-46571600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr21:46566000-46571600	Weak transcription	Left Ventricle	heart
41	chr21:46566000-46573200	Weak transcription	Osteobl	bone
42	chr21:46566000-46583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr21:46566200-46571600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr21:46566800-46571000	Weak transcription	Adipose Nuclei	Adipose
45	chr21:46567000-46571000	Weak transcription	Fetal Thymus	thymus
46	chr21:46567200-46571600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr21:46567200-46573200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:46567800-46570600	Weak transcription	K562	blood
49	chr21:46568000-46571600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:46568200-46570600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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