Variant report

Variant	rs9981884
Chromosome Location	chr21:40585633-40585634
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40578179..40580056-chr21:40585515..40588059,2	K562	blood:
2	chr21:40585095..40587800-chr21:40718883..40720522,2	K562	blood:
3	chr21:40583924..40586852-chr21:40588522..40591681,4	MCF-7	breast:
4	21:40583765-40590917..21:40718004-40719183	GM12878	blood:
5	chr21:40584192..40587063-chr21:40587263..40589363,2	K562	blood:
6	21:40583765-40590917..21:40796857-40798340	Hela-S3	cervix:
7	chr21:40584624..40587593-chr21:40591669..40593953,3	K562	blood:
8	chr21:40585420..40588225-chr21:40594094..40595932,2	K562	blood:
9	chr21:40582888..40584633-chr21:40585013..40587494,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237373	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000232608	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6517522	0.83[AMR][1000 genomes];0.89[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	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9981884	HMGN1	Cis_1M	lymphoblastoid	RTeQTL
rs9981884	HMGN1	cis	multi-tissue	Pritchard
rs9981884	BRWD1	Cis_1M	lymphoblastoid	RTeQTL
rs9981884	PSMG1	cis	Artery Tibial	GTEx
rs9981884	PSMG1	cis	Esophagus Mucosa	GTEx
rs9981884	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
3	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:40563600-40588600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr21:40564600-40612600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:40564800-40587800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:40565000-40592600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr21:40565400-40604200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:40565400-40612600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr21:40565400-40653600	Strong transcription	Dnd41	blood
16	chr21:40565600-40590200	Strong transcription	Liver	Liver
17	chr21:40565600-40615000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:40565800-40590600	Strong transcription	Fetal Thymus	thymus
19	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:40566200-40590600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr21:40566200-40590600	Strong transcription	Adipose Nuclei	Adipose
22	chr21:40566400-40613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:40567400-40592400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr21:40569800-40607800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:40570600-40589800	Weak transcription	Stomach Mucosa	stomach
26	chr21:40571400-40602400	Weak transcription	Fetal Brain Male	brain
27	chr21:40572000-40636800	Weak transcription	Psoas Muscle	Psoas
28	chr21:40573800-40593600	Weak transcription	A549	lung
29	chr21:40573800-40631000	Weak transcription	Small Intestine	intestine
30	chr21:40575200-40589400	Weak transcription	NHEK	skin
31	chr21:40576200-40590400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr21:40576200-40597400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:40576400-40592400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr21:40576600-40588600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr21:40576600-40589000	Strong transcription	Primary B cells from cord blood	blood
36	chr21:40576800-40589600	Weak transcription	HUVEC	blood vessel
37	chr21:40576800-40593600	Weak transcription	Right Atrium	heart
38	chr21:40577000-40586600	Strong transcription	HSMM	muscle
39	chr21:40577200-40593800	Weak transcription	Colon Smooth Muscle	Colon
40	chr21:40577200-40595400	Weak transcription	Colonic Mucosa	Colon
41	chr21:40577600-40586800	Weak transcription	Esophagus	oesophagus
42	chr21:40577600-40587000	Weak transcription	Brain Angular Gyrus	brain
43	chr21:40577600-40589400	Weak transcription	Brain Hippocampus Middle	brain
44	chr21:40577600-40596000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr21:40577800-40598800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:40578000-40586800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:40578000-40586800	Weak transcription	Pancreas	Pancrea
48	chr21:40578000-40586800	Weak transcription	Right Ventricle	heart
49	chr21:40578000-40589000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:40578000-40589600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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