Variant report

Variant	rs73030354
Chromosome Location	chr2:178619952-178619953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178618935..178620088-chr2:178628107..178628999,3	K562	blood:
2	chr2:178605851..178612648-chr2:178616931..178621245,6	K562	blood:
3	chr2:178119541..178122039-chr2:178618644..178620470,2	K562	blood:

Variant related genes	Relation type
ENSG00000265396	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10497488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497489	0.92[ASN][1000 genomes]
rs10930806	0.92[ASN][1000 genomes]
rs13031632	0.92[ASN][1000 genomes]
rs1344925	0.92[ASN][1000 genomes]
rs1370655	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1438041	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs16865764	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16865769	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400325	0.89[AMR][1000 genomes]
rs34952652	0.92[ASN][1000 genomes]
rs3770028	0.92[ASN][1000 genomes]
rs3770043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3821007	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57242051	0.93[EUR][1000 genomes]
rs57427125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57877880	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58408943	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59657949	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60748325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61334857	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61551597	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs62183002	0.89[AMR][1000 genomes]
rs62183005	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62183040	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62183042	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs62183043	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6704720	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6731237	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73030327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934798	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178610600-178628200	Weak transcription	Pancreas	Pancrea
2	chr2:178614800-178624000	Enhancers	Fetal Muscle Leg	muscle
3	chr2:178617400-178620000	Enhancers	Colon Smooth Muscle	Colon
4	chr2:178617800-178621600	Enhancers	Ovary	ovary
5	chr2:178617800-178624000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:178617800-178624000	Enhancers	Fetal Lung	lung
7	chr2:178618200-178620400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:178618200-178621400	Enhancers	Fetal Thymus	thymus
9	chr2:178618200-178621600	Enhancers	K562	blood
10	chr2:178618200-178623600	Enhancers	Fetal Stomach	stomach
11	chr2:178618400-178620000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:178618400-178620200	Enhancers	Right Ventricle	heart
13	chr2:178618400-178620400	Enhancers	Left Ventricle	heart
14	chr2:178618400-178620600	Enhancers	Placenta	Placenta
15	chr2:178618400-178623200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:178618400-178628200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:178618800-178622400	Enhancers	Dnd41	blood
18	chr2:178619000-178620000	Enhancers	Stomach Mucosa	stomach
19	chr2:178619200-178623200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:178619400-178620200	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:178619400-178620400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:178619400-178623200	Weak transcription	Brain Angular Gyrus	brain
23	chr2:178619400-178628400	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:178619600-178620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:178619600-178621400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:178619600-178622400	Enhancers	Fetal Kidney	kidney
27	chr2:178619600-178623000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:178619600-178623200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:178619600-178623200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:178619600-178623200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:178619600-178623200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:178619600-178623200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:178619600-178628200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:178619600-178628200	Weak transcription	Psoas Muscle	Psoas
35	chr2:178619600-178628200	Weak transcription	Right Atrium	heart
36	chr2:178619800-178621000	Enhancers	Fetal Heart	heart
37	chr2:178619800-178623200	Weak transcription	Adipose Nuclei	Adipose
38	chr2:178619800-178623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:178619800-178623200	Weak transcription	Rectal Smooth Muscle	rectum

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