Variant report

Variant	rs2400707
Chromosome Location	chr5:148205052-148205053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr5:148204960-148207167	IMR90	lung:	n/a	n/a
2	E2F4	chr5:148204975-148205163	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:148203764..148205297-chr5:148205448..148207898,2	K562	blood:

Variant related genes	Relation type
ADRB2	TF binding region
ENSG00000169252	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10078004	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1042711	0.95[EUR][1000 genomes]
rs1042714	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs11168066	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168067	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168070	0.98[EUR][1000 genomes]
rs11746634	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11958940	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11959427	0.97[EUR][1000 genomes]
rs11959615	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13357143	0.83[ASN][1000 genomes]
rs1432622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432623	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801704	1.00[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs2053044	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082382	0.94[EUR][1000 genomes]
rs2082395	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34064454	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705059	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705060	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56330463	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67339154	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878362	0.83[ASN][1000 genomes]
rs9325120	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9325122	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883022	chr5:148200553-148205372	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148186400-148205400	Weak transcription	Aorta	Aorta
2	chr5:148189000-148205200	Weak transcription	Psoas Muscle	Psoas
3	chr5:148194600-148205200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:148194600-148205200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:148195000-148205200	Weak transcription	Brain Substantia Nigra	brain
6	chr5:148195200-148205200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:148195400-148205200	Weak transcription	Brain Anterior Caudate	brain
8	chr5:148196600-148205200	Weak transcription	Right Atrium	heart
9	chr5:148197600-148205400	Weak transcription	Spleen	Spleen
10	chr5:148198600-148205200	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:148200200-148205200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:148203200-148205200	Weak transcription	Fetal Stomach	stomach
13	chr5:148203200-148206000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:148203600-148205200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:148204200-148205200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr5:148204200-148205200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:148204200-148205200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:148204200-148205200	Enhancers	Adipose Nuclei	Adipose
19	chr5:148204200-148205200	Enhancers	Duodenum Mucosa	Duodenum
20	chr5:148204200-148205200	Enhancers	Fetal Muscle Leg	muscle
21	chr5:148204200-148205200	Enhancers	NHDF-Ad	bronchial
22	chr5:148204400-148205200	Enhancers	Primary hematopoietic stem cells	blood
23	chr5:148204400-148205200	Enhancers	Fetal Lung	lung
24	chr5:148204400-148205200	Enhancers	NHLF	lung
25	chr5:148204400-148205400	Weak transcription	Gastric	stomach
26	chr5:148204800-148205200	Enhancers	Primary B cells from peripheral blood	blood
27	chr5:148204800-148205200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr5:148204800-148205200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:148204800-148205200	Enhancers	NHEK	skin
30	chr5:148205000-148205200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:148205000-148205200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:148205000-148205200	Enhancers	Primary T cells from cord blood	blood
33	chr5:148205000-148205200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:148205000-148205200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr5:148205000-148205200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr5:148205000-148205200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr5:148205000-148205200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:148205000-148205200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:148205000-148205200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:148205000-148205200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:148205000-148205200	Enhancers	Colon Smooth Muscle	Colon
42	chr5:148205000-148205200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr5:148205000-148205200	Enhancers	Rectal Smooth Muscle	rectum
44	chr5:148205000-148205200	Active TSS	Stomach Smooth Muscle	stomach
45	chr5:148205000-148205200	Enhancers	HepG2	liver
46	chr5:148205000-148205200	Enhancers	HSMM	muscle
47	chr5:148205000-148205200	Enhancers	HUVEC	blood vessel
48	chr5:148205000-148205400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:148205000-148205400	Flanking Active TSS	Fetal Heart	heart
50	chr5:148205000-148205400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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