Variant report

Variant	rs4818008
Chromosome Location	chr21:40611442-40611443
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40603008..40605391-chr21:40609514..40611568,2	MCF-7	breast:
2	chr21:40578990..40581803-chr21:40609609..40612432,2	K562	blood:
3	chr21:40608675..40611131-chr21:40611181..40613899,2	K562	blood:
4	chr21:40586470..40588300-chr21:40610304..40612724,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12482317	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836950	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836961	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62222988	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62223042	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8134638	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][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	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
4	nsv587481	chr21:40598721-40627020	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4818008	HMGN1	Cis_1M	lymphoblastoid	RTeQTL
rs4818008	BRWD1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
2	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:40564600-40612600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:40565400-40612600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr21:40565400-40653600	Strong transcription	Dnd41	blood
11	chr21:40565600-40615000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:40566400-40613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:40572000-40636800	Weak transcription	Psoas Muscle	Psoas
15	chr21:40573800-40631000	Weak transcription	Small Intestine	intestine
16	chr21:40581400-40635400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr21:40582200-40614200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr21:40582600-40622000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr21:40582800-40654000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr21:40591200-40621600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr21:40591200-40622200	Strong transcription	Liver	Liver
22	chr21:40591400-40625200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr21:40592000-40622400	Strong transcription	K562	blood
24	chr21:40593400-40613400	Strong transcription	Fetal Thymus	thymus
25	chr21:40593400-40650800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr21:40593600-40613200	Strong transcription	Primary T cells from cord blood	blood
27	chr21:40594200-40612200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr21:40595800-40624000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr21:40596200-40614200	Weak transcription	Brain Angular Gyrus	brain
30	chr21:40596600-40612400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:40597200-40635600	Weak transcription	Fetal Heart	heart
32	chr21:40598200-40612200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr21:40598200-40612600	Strong transcription	HepG2	liver
34	chr21:40598200-40612800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr21:40598200-40629800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr21:40598400-40612400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:40598400-40612600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:40598600-40625000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:40598800-40612400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr21:40598800-40613400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:40599200-40623800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr21:40599600-40613000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr21:40600400-40612600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr21:40600600-40612600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr21:40603000-40627800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr21:40603200-40653400	Weak transcription	Right Atrium	heart
47	chr21:40603600-40612800	Strong transcription	Primary B cells from cord blood	blood
48	chr21:40604000-40612800	Strong transcription	Fetal Brain Female	brain
49	chr21:40605600-40612200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr21:40605600-40612200	Strong transcription	Fetal Intestine Large	intestine

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