Variant report

Variant	rs73030362
Chromosome Location	chr2:178626449-178626450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178625185..178628577-chr2:178631352..178633958,4	K562	blood:
2	chr2:178497999..178500939-chr2:178626259..178628565,2	K562	blood:
3	chr2:178617088..178619453-chr2:178625433..178628284,2	K562	blood:
4	chr2:178626024..178627917-chr2:178634127..178636580,3	K562	blood:
5	chr2:178624491..178626803-chr2:178628555..178630115,2	K562	blood:
6	chr2:178625497..178630071-chr2:178630619..178633026,4	K562	blood:

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]
rs73030357	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178610600-178628200	Weak transcription	Pancreas	Pancrea
2	chr2:178618400-178628200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:178619400-178628400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:178619600-178628200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:178619600-178628200	Weak transcription	Psoas Muscle	Psoas
6	chr2:178619600-178628200	Weak transcription	Right Atrium	heart
7	chr2:178620600-178628200	Weak transcription	Placenta	Placenta
8	chr2:178623600-178627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:178623600-178628000	Weak transcription	Fetal Kidney	kidney
10	chr2:178623600-178628200	Weak transcription	Fetal Stomach	stomach
11	chr2:178623600-178628200	Weak transcription	Ovary	ovary
12	chr2:178623800-178628000	Weak transcription	Adipose Nuclei	Adipose
13	chr2:178623800-178628200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:178623800-178628200	Weak transcription	HUVEC	blood vessel
15	chr2:178624000-178627400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:178624000-178628200	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:178624000-178628200	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:178624000-178628200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:178624000-178628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:178624000-178628400	Weak transcription	Fetal Lung	lung
21	chr2:178624400-178627200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:178624600-178628200	Weak transcription	Fetal Heart	heart
23	chr2:178624800-178628600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:178625000-178627400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:178625000-178628000	Weak transcription	K562	blood

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