Variant report

Variant	rs153310
Chromosome Location	chr5:76033511-76033512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75937138..75939935-chr5:76031767..76034422,2	K562	blood:
2	chr5:76011354..76013576-chr5:76033498..76036303,3	K562	blood:
3	chr5:76015744..76018157-chr5:76033229..76035001,2	K562	blood:
4	chr5:76032426..76034462-chr5:76050771..76053290,2	K562	blood:

Variant related genes	Relation type
ENSG00000181104	Chromatin interaction
ENSG00000225407	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs152778	0.85[ASN][1000 genomes]
rs153306	0.81[ASN][1000 genomes]
rs193943	0.86[ASN][1000 genomes]
rs250716	0.86[ASN][1000 genomes]
rs250717	0.88[ASN][1000 genomes]
rs250719	0.88[ASN][1000 genomes]
rs250720	0.82[ASN][1000 genomes]
rs250730	0.97[ASN][1000 genomes]
rs250731	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250739	0.90[ASN][1000 genomes]
rs250741	0.90[ASN][1000 genomes]
rs250742	0.91[ASN][1000 genomes]
rs250744	0.91[ASN][1000 genomes]
rs250745	0.91[ASN][1000 genomes]
rs250746	0.91[ASN][1000 genomes]
rs250747	0.90[ASN][1000 genomes]
rs250748	0.91[ASN][1000 genomes]
rs250750	0.90[ASN][1000 genomes]
rs250751	0.91[ASN][1000 genomes]
rs250752	0.91[ASN][1000 genomes]
rs253072	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs253073	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs37250	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs457606	0.81[ASN][1000 genomes]
rs705402	0.90[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882209	chr5:76004933-76034355	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs153310	F2R	cis	Muscle Skeletal	GTEx
rs153310	F2R	cis	lung	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76018400-76034400	Weak transcription	Left Ventricle	heart
2	chr5:76021200-76034200	Weak transcription	HepG2	liver
3	chr5:76026200-76034600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:76026400-76034200	Weak transcription	Small Intestine	intestine
5	chr5:76026400-76042800	Weak transcription	Right Atrium	heart
6	chr5:76026800-76034800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:76027200-76034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:76028800-76033600	Weak transcription	Lung	lung
9	chr5:76028800-76034200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:76028800-76034800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:76029000-76034600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:76029000-76034800	Weak transcription	Adipose Nuclei	Adipose
13	chr5:76029200-76034400	Weak transcription	Fetal Intestine Small	intestine
14	chr5:76029200-76034600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:76029200-76034600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:76029200-76034600	Weak transcription	Fetal Stomach	stomach
17	chr5:76029200-76034800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:76029200-76034800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:76029200-76035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:76030000-76034800	Weak transcription	HMEC	breast
21	chr5:76030000-76040200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:76030400-76033600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:76030400-76038600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:76030400-76040200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:76030600-76034000	Weak transcription	NH-A	brain
26	chr5:76030600-76034400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:76030600-76034400	Weak transcription	Fetal Intestine Large	intestine
28	chr5:76030600-76034600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:76030600-76034600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:76030600-76034600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:76030600-76034600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:76030600-76034600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:76030600-76034600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:76030600-76039400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:76030600-76040200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:76030600-76040400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:76030600-76046600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:76030800-76033800	Weak transcription	NHDF-Ad	bronchial
39	chr5:76030800-76034000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:76030800-76040200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:76031200-76034000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:76031200-76034400	Weak transcription	Osteobl	bone
43	chr5:76031600-76034200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr5:76031600-76034200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:76031600-76034400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:76031600-76034600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr5:76031600-76034600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:76031600-76034600	Enhancers	K562	blood
49	chr5:76031600-76034800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:76031600-76035600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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