Variant report

Variant	rs55774570
Chromosome Location	chr3:110848243-110848244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11717706	0.82[AFR][1000 genomes]
rs13060876	0.81[AFR][1000 genomes]
rs13061640	0.81[AFR][1000 genomes]
rs13072462	0.82[AFR][1000 genomes]
rs13093206	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1351049	0.80[AMR][1000 genomes]
rs1382075	0.81[AFR][1000 genomes]
rs1477841	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1477842	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1477847	0.82[AFR][1000 genomes]
rs1477851	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1547518	0.80[AFR][1000 genomes]
rs2126710	0.81[AFR][1000 genomes]
rs2126713	0.83[AFR][1000 genomes]
rs2399373	0.82[AFR][1000 genomes]
rs2399375	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4682033	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682034	0.84[AFR][1000 genomes]
rs4682229	0.81[AFR][1000 genomes]
rs4682230	0.82[AFR][1000 genomes]
rs4682231	0.82[AFR][1000 genomes]
rs4682234	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4682238	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56668317	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57417964	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6437948	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6437952	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6437953	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6437955	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs66803420	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs67209183	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6781480	0.81[AFR][1000 genomes]
rs6794645	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7430600	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7610760	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7612572	0.82[AFR][1000 genomes]
rs7612667	0.82[AFR][1000 genomes]
rs7623847	0.84[AFR][1000 genomes]
rs7623880	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7632375	0.81[AFR][1000 genomes]
rs7632388	0.81[AFR][1000 genomes]
rs7653595	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9828899	0.82[AFR][1000 genomes]
rs9866028	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9876350	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv591276	chr3:110822496-110854196	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv877338	chr3:110824425-110860188	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv1008308	chr3:110836281-110885834	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv963531	chr3:110844919-110856568	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110816000-110873800	Weak transcription	Left Ventricle	heart
2	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:110817400-110855200	Weak transcription	Pancreas	Pancrea
4	chr3:110819200-110857200	Weak transcription	NHLF	lung
5	chr3:110826800-110884200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:110827800-110849200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:110828000-110851400	Weak transcription	Aorta	Aorta
8	chr3:110829400-110893400	Weak transcription	HUVEC	blood vessel
9	chr3:110830400-110852800	Weak transcription	NH-A	brain
10	chr3:110830600-110854200	Weak transcription	Right Ventricle	heart
11	chr3:110830800-110852400	Weak transcription	Fetal Brain Male	brain
12	chr3:110830800-110853800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:110832000-110854600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:110832000-110854600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:110832000-110856600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:110832200-110852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:110832200-110853600	Weak transcription	HSMMtube	muscle
18	chr3:110832200-110881800	Weak transcription	Small Intestine	intestine
19	chr3:110832200-110892400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:110832400-110911200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:110832800-110852400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:110833600-110855400	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:110834000-110891800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:110834400-110852400	Weak transcription	Ovary	ovary
25	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:110836200-110848400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:110836200-110872800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr3:110837200-110854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:110838200-110848600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:110838400-110880200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:110842600-110852400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:110842600-110852400	Weak transcription	Fetal Heart	heart
33	chr3:110842600-110911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:110843000-110852400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:110843000-110857400	Weak transcription	Adipose Nuclei	Adipose
36	chr3:110843800-110852400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:110845000-110848400	Strong transcription	Placenta	Placenta
38	chr3:110845000-110848600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr3:110845400-110880000	Weak transcription	Fetal Kidney	kidney
40	chr3:110846000-110863600	Weak transcription	NHDF-Ad	bronchial
41	chr3:110846800-110852400	Weak transcription	HSMM	muscle
42	chr3:110847000-110852400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:110847000-110854200	Weak transcription	Osteobl	bone
44	chr3:110847000-110873800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:110847000-110911400	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:110847200-110852000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:110847200-110852400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:110847200-110852400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:110847200-110873800	Weak transcription	Fetal Intestine Small	intestine
50	chr3:110847200-110874000	Weak transcription	Fetal Stomach	stomach

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