Variant report

Variant	rs5749186
Chromosome Location	chr22:31285680-31285681
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	CEBPB	chr22:31285630-31285955	HepG2	liver:	n/a	chr22:31285787-31285798 chr22:31285785-31285796 chr22:31285785-31285798
2	CEBPB	chr22:31285612-31285968	HepG2	liver:	n/a	chr22:31285787-31285798 chr22:31285785-31285796 chr22:31285785-31285798
3	POLR2A	chr22:31285633-31287194	HepG2	liver:	n/a	n/a
4	CEBPB	chr22:31285665-31285865	IMR90	lung:	n/a	chr22:31285787-31285798 chr22:31285785-31285796 chr22:31285785-31285798
5	CEBPB	chr22:31285583-31285984	HepG2	liver:	n/a	chr22:31285787-31285798 chr22:31285785-31285796 chr22:31285785-31285798
6	HNF4A	chr22:31285634-31285892	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1003480	0.92[CEU][hapmap];0.94[CHB][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1005252	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10854601	0.94[YRI][hapmap]
rs2074578	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2240175	0.96[YRI][hapmap]
rs2240177	0.96[YRI][hapmap]
rs2240179	0.93[YRI][hapmap]
rs2240180	0.96[YRI][hapmap]
rs2240182	0.96[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2240183	0.93[YRI][hapmap]
rs2285918	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3747151	0.96[YRI][hapmap]
rs3788426	0.96[YRI][hapmap]
rs3804085	0.93[YRI][hapmap];0.80[AFR][1000 genomes]
rs4820916	0.96[YRI][hapmap]
rs5749185	0.80[YRI][hapmap]
rs5749194	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749195	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753369	1.00[CHB][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs5753388	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753392	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753394	0.96[YRI][hapmap]
rs5753398	0.93[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753407	0.93[YRI][hapmap]
rs5753408	0.93[YRI][hapmap]
rs5753410	0.93[YRI][hapmap]
rs5997807	0.81[AFR][1000 genomes]
rs5997830	0.93[YRI][hapmap]
rs5997838	0.96[YRI][hapmap]
rs5997846	0.88[CEU][hapmap];0.93[YRI][hapmap]
rs7284767	0.96[YRI][hapmap]
rs7291077	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7291361	0.93[YRI][hapmap]
rs737924	0.96[YRI][hapmap]
rs739896	0.87[YRI][hapmap]
rs8135974	0.93[YRI][hapmap]
rs9609183	0.84[YRI][hapmap]

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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31275800-31289400	Weak transcription	NHDF-Ad	bronchial
5	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
6	chr22:31278000-31290000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:31278200-31286600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr22:31278200-31288200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:31278400-31286200	Weak transcription	Fetal Muscle Leg	muscle
10	chr22:31278400-31288600	Weak transcription	HSMMtube	muscle
11	chr22:31278400-31291800	Weak transcription	HMEC	breast
12	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
16	chr22:31278800-31301600	Weak transcription	A549	lung
17	chr22:31279400-31288600	Weak transcription	Hela-S3	cervix
18	chr22:31280200-31287200	Genic enhancers	Fetal Intestine Small	intestine
19	chr22:31280200-31288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:31281400-31288800	Weak transcription	Lung	lung
21	chr22:31281600-31286600	Weak transcription	K562	blood
22	chr22:31282200-31289000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr22:31282200-31289600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:31282600-31287800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr22:31282600-31287800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr22:31283000-31287200	Genic enhancers	Fetal Intestine Large	intestine
29	chr22:31283000-31290600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
31	chr22:31283200-31289800	Strong transcription	Spleen	Spleen
32	chr22:31283200-31290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:31283400-31286600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr22:31283400-31286600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr22:31283400-31286800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:31283400-31290200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr22:31283400-31290200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:31283400-31290200	Strong transcription	Fetal Stomach	stomach
39	chr22:31283400-31290600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr22:31283400-31290800	Weak transcription	Colon Smooth Muscle	Colon
41	chr22:31283400-31291000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:31283400-31291200	Strong transcription	Brain Cingulate Gyrus	brain
43	chr22:31283400-31291200	Strong transcription	Brain Hippocampus Middle	brain
44	chr22:31283400-31291400	Strong transcription	Brain Germinal Matrix	brain
45	chr22:31283400-31291400	Strong transcription	Fetal Brain Female	brain
46	chr22:31283400-31291600	Strong transcription	Brain Anterior Caudate	brain
47	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr22:31283600-31288000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:31283600-31289600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:31283600-31290200	Strong transcription	Duodenum Mucosa	Duodenum

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