Variant report

Variant	rs57311038
Chromosome Location	chr1:161988819-161988820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161988408..161990342-chr1:161996489..161998444,2	K562	blood:
2	chr1:161983872..161987361-chr1:161988391..161990751,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12119861	0.87[EUR][1000 genomes]
rs12120969	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12121431	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12125293	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12126296	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12130792	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161979200-161993200	Weak transcription	Gastric	stomach
2	chr1:161981400-161989200	Weak transcription	Placenta	Placenta
3	chr1:161981600-161989000	Weak transcription	Ovary	ovary
4	chr1:161982600-161989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:161982600-161990600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:161983000-161991000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:161983600-161989000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:161983600-161989400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:161985000-161990800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:161985200-161990800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:161985200-161990800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:161985800-161990800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:161986800-161993000	Weak transcription	Spleen	Spleen
14	chr1:161988000-161990200	Enhancers	Brain Germinal Matrix	brain
15	chr1:161988000-161991000	Enhancers	Fetal Heart	heart
16	chr1:161988000-161992400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:161988200-161989000	Strong transcription	Fetal Stomach	stomach
18	chr1:161988200-161989400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:161988200-161989400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:161988200-161989600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:161988200-161989600	Enhancers	NH-A	brain
22	chr1:161988200-161989800	Enhancers	Brain Hippocampus Middle	brain
23	chr1:161988200-161990000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:161988200-161990000	Genic enhancers	Fetal Muscle Leg	muscle
25	chr1:161988200-161990200	Enhancers	Aorta	Aorta
26	chr1:161988200-161990200	Enhancers	Right Atrium	heart
27	chr1:161988200-161991200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:161988200-161991200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:161988200-161991200	Enhancers	Left Ventricle	heart
30	chr1:161988400-161989200	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:161988400-161989400	Enhancers	NHEK	skin
32	chr1:161988400-161989800	Enhancers	Brain Cingulate Gyrus	brain
33	chr1:161988400-161989800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr1:161988400-161990000	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr1:161988400-161991200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:161988400-161991200	Enhancers	Right Ventricle	heart
37	chr1:161988400-161991200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:161988600-161989000	Weak transcription	Lung	lung
39	chr1:161988600-161989400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:161988600-161989400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:161988600-161989400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:161988600-161989600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:161988600-161989600	Enhancers	Brain Substantia Nigra	brain
44	chr1:161988600-161989600	Enhancers	Fetal Lung	lung
45	chr1:161988600-161990000	Enhancers	Brain Anterior Caudate	brain
46	chr1:161988600-161990800	Enhancers	HSMMtube	muscle
47	chr1:161988600-161990800	Enhancers	NHDF-Ad	bronchial
48	chr1:161988600-161991000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:161988600-161991800	Enhancers	NHLF	lung
50	chr1:161988800-161989000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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