Variant report

Variant	rs73030357
Chromosome Location	chr2:178622071-178622072
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178559293..178562880-chr2:178620510..178622541,4	K562	blood:
2	chr2:178128837..178131144-chr2:178621737..178623732,2	K562	blood:
3	chr2:178614142..178617008-chr2:178620652..178623296,2	MCF-7	breast:
4	chr2:178620484..178623470-chr2:178626460..178628265,2	K562	blood:
5	chr2:178200914..178202692-chr2:178620399..178622390,2	K562	blood:
6	chr2:178593275..178595968-chr2:178621315..178623404,2	K562	blood:

Variant related genes	Relation type
ENSG00000116044	Chromatin interaction
ENSG00000222043	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11886258	1.00[EUR][1000 genomes]
rs11901841	1.00[EUR][1000 genomes]
rs12620627	1.00[EUR][1000 genomes]
rs13428260	1.00[EUR][1000 genomes]
rs1344924	1.00[EUR][1000 genomes]
rs1358300	1.00[EUR][1000 genomes]
rs16865743	1.00[EUR][1000 genomes]
rs56797590	1.00[EUR][1000 genomes]
rs57026464	1.00[EUR][1000 genomes]
rs57986087	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58471763	1.00[EUR][1000 genomes]
rs59234264	1.00[EUR][1000 genomes]
rs59572353	1.00[EUR][1000 genomes]
rs61560417	1.00[EUR][1000 genomes]
rs6714540	1.00[EUR][1000 genomes]
rs73026501	1.00[EUR][1000 genomes]
rs73028307	1.00[EUR][1000 genomes]
rs73028314	1.00[EUR][1000 genomes]
rs73028315	1.00[EUR][1000 genomes]
rs73028326	1.00[EUR][1000 genomes]
rs73028333	1.00[EUR][1000 genomes]
rs73028337	1.00[EUR][1000 genomes]
rs73028352	1.00[EUR][1000 genomes]
rs73028355	1.00[EUR][1000 genomes]
rs73030318	1.00[EUR][1000 genomes]
rs73030323	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73030331	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73030336	1.00[EUR][1000 genomes]
rs73030347	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73030350	1.00[EUR][1000 genomes]
rs73030362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73030372	1.00[AFR][1000 genomes]
rs73032055	1.00[EUR][1000 genomes]
rs73032059	1.00[EUR][1000 genomes]
rs73032072	1.00[EUR][1000 genomes]
rs73038286	1.00[EUR][1000 genomes]
rs73038287	1.00[EUR][1000 genomes]
rs73042837	1.00[EUR][1000 genomes]
rs73042842	1.00[EUR][1000 genomes]
rs7577598	1.00[EUR][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:35 , 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	chr2:178617800-178624000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:178617800-178624000	Enhancers	Fetal Lung	lung
5	chr2:178618200-178623600	Enhancers	Fetal Stomach	stomach
6	chr2:178618400-178623200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:178618400-178628200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:178618800-178622400	Enhancers	Dnd41	blood
9	chr2:178619200-178623200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:178619400-178623200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:178619400-178628400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:178619600-178622400	Enhancers	Fetal Kidney	kidney
13	chr2:178619600-178623000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:178619600-178623200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:178619600-178623200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:178619600-178623200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:178619600-178623200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:178619600-178623200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:178619600-178628200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:178619600-178628200	Weak transcription	Psoas Muscle	Psoas
21	chr2:178619600-178628200	Weak transcription	Right Atrium	heart
22	chr2:178619800-178623200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:178619800-178623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:178619800-178623200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:178620000-178623200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:178620000-178623200	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:178620200-178623200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:178620400-178623200	Weak transcription	Left Ventricle	heart
29	chr2:178620400-178623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:178620600-178628200	Weak transcription	Placenta	Placenta
31	chr2:178620800-178623400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:178621000-178623200	Weak transcription	Fetal Heart	heart
33	chr2:178621400-178624200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:178621600-178622400	Weak transcription	K562	blood
35	chr2:178622000-178622200	Enhancers	Ovary	ovary

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