Variant report

Variant	rs1438045
Chromosome Location	chr2:178628694-178628695
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178628288..178628986-chr2:178637325..178638102,2	MCF-7	breast:
2	chr2:178618935..178620088-chr2:178628107..178628999,3	K562	blood:
3	chr2:178624491..178626803-chr2:178628555..178630115,2	K562	blood:
4	chr2:178627223..178631430-chr2:178636962..178640011,3	K562	blood:
5	chr2:178625497..178630071-chr2:178630619..178633026,4	K562	blood:
6	chr2:178628572..178630202-chr2:178634599..178638462,3	K562	blood:
7	chr2:178589262..178589874-chr2:178628223..178628806,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10165826	0.96[YRI][hapmap];0.84[AMR][1000 genomes]
rs10172247	0.89[YRI][hapmap]
rs10176298	0.82[YRI][hapmap]
rs10177961	0.96[YRI][hapmap];0.84[AMR][1000 genomes]
rs10178985	0.96[YRI][hapmap]
rs10192225	0.89[YRI][hapmap]
rs10194370	0.89[YRI][hapmap]
rs10202985	0.84[AMR][1000 genomes]
rs13422021	0.89[YRI][hapmap]
rs13427906	0.89[YRI][hapmap]
rs13431084	0.96[YRI][hapmap];0.84[AMR][1000 genomes]
rs1438046	0.89[YRI][hapmap]
rs1465830	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs16865593	0.89[YRI][hapmap]
rs16865709	0.89[YRI][hapmap]
rs16865767	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865771	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865772	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs1866214	0.89[YRI][hapmap]
rs2365625	1.00[CHB][hapmap]
rs28679800	0.94[ASN][1000 genomes]
rs3770029	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433692	0.88[ASN][1000 genomes]
rs6708025	0.96[YRI][hapmap]
rs6727390	0.89[YRI][hapmap]
rs6752409	0.84[AMR][1000 genomes]
rs6756994	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6760512	0.85[YRI][hapmap]
rs714528	0.96[YRI][hapmap];0.84[AMR][1000 genomes]
rs73028328	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7578325	1.00[CHB][hapmap]
rs7606084	0.89[YRI][hapmap]

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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178627200-178628800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:178627400-178628800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:178628000-178629200	Enhancers	Fetal Kidney	kidney
4	chr2:178628200-178628800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:178628200-178628800	Enhancers	Fetal Heart	heart
6	chr2:178628200-178628800	Enhancers	Fetal Muscle Leg	muscle
7	chr2:178628200-178628800	Enhancers	Fetal Stomach	stomach
8	chr2:178628200-178628800	Enhancers	Left Ventricle	heart
9	chr2:178628200-178628800	Enhancers	Right Ventricle	heart
10	chr2:178628400-178628800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:178628400-178628800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:178628400-178628800	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:178628400-178628800	Enhancers	Brain Hippocampus Middle	brain
14	chr2:178628400-178628800	Enhancers	Brain Substantia Nigra	brain
15	chr2:178628400-178628800	Enhancers	Fetal Lung	lung
16	chr2:178628600-178628800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:178628600-178628800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr2:178628600-178628800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:178628600-178628800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:178628600-178628800	Enhancers	Adipose Nuclei	Adipose
21	chr2:178628600-178628800	Enhancers	Brain Anterior Caudate	brain
22	chr2:178628600-178628800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:178628600-178628800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:178628600-178630200	Weak transcription	K562	blood
25	chr2:178628600-178631200	Weak transcription	Pancreas	Pancrea
26	chr2:178628600-178632000	Weak transcription	HepG2	liver
27	chr2:178628600-178632600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:178628600-178636000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:178628600-178636000	Weak transcription	NHEK	skin

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