Variant report

Variant	rs2990705
Chromosome Location	chr1:160961533-160961534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160959131..160961760-chr1:160965672..160967249,2	K562	blood:
2	chr1:160960637..160963812-chr1:161007748..161011422,3	K562	blood:
3	chr1:160961533..160963380-chr1:161042584..161044896,2	MCF-7	breast:
4	chr1:160961010..160963453-chr1:160963698..160966046,2	K562	blood:

Variant related genes	Relation type
ENSG00000215845	Chromatin interaction
ENSG00000143217	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000270149	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12030262	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12723902	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743772	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243479	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2250288	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2481072	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2483143	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2483144	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483148	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28365978	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2988723	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2990700	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2990701	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2990704	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3007156	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3007157	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4656975	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7530765	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7546890	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9427367	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv548058	chr1:160925455-160989614	Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2990705	F11R	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160948600-160968000	Weak transcription	Ovary	ovary
2	chr1:160952200-160964400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:160952200-160967000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:160953200-160966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:160953800-160968200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:160955800-160964400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:160957200-160966800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:160957400-160967000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:160957800-160968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:160958200-160966600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:160960000-160967200	Weak transcription	Primary B cells from cord blood	blood
12	chr1:160960000-160967400	Weak transcription	Lung	lung
13	chr1:160960000-160968000	Weak transcription	Pancreas	Pancrea
14	chr1:160960000-160970200	Weak transcription	Right Ventricle	heart
15	chr1:160960200-160964600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:160960200-160966800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:160960200-160967000	Weak transcription	Placenta	Placenta
18	chr1:160960200-160967600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:160960200-160967600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:160960200-160968000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:160960200-160968400	Weak transcription	Left Ventricle	heart
22	chr1:160960400-160963200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:160960400-160966800	Weak transcription	Adipose Nuclei	Adipose
24	chr1:160960400-160967000	Weak transcription	Fetal Intestine Small	intestine
25	chr1:160960400-160967600	Weak transcription	Fetal Stomach	stomach
26	chr1:160960400-160968000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:160960400-160968200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:160960400-160968200	Weak transcription	Fetal Brain Female	brain
29	chr1:160960400-160978400	Weak transcription	Fetal Lung	lung
30	chr1:160960600-160963000	Weak transcription	Fetal Heart	heart
31	chr1:160960600-160963400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:160960600-160963600	Weak transcription	HMEC	breast
33	chr1:160960600-160964400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:160960600-160964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:160960600-160964600	Weak transcription	NHEK	skin
36	chr1:160960600-160964800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:160960600-160965000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:160960600-160965000	Weak transcription	HUVEC	blood vessel
39	chr1:160960600-160965400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:160960600-160966200	Weak transcription	Fetal Intestine Large	intestine
41	chr1:160960600-160966400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:160960600-160966400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:160960600-160966600	Weak transcription	Liver	Liver
44	chr1:160960600-160966800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:160960600-160967000	Weak transcription	Fetal Thymus	thymus
46	chr1:160960600-160967000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:160960600-160967000	Weak transcription	Stomach Mucosa	stomach
48	chr1:160960600-160967000	Weak transcription	GM12878-XiMat	blood
49	chr1:160960600-160967000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr1:160960600-160967200	Weak transcription	Primary monocytes fromperipheralblood	blood

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