Variant report

Variant	rs1527881
Chromosome Location	chr2:183458408-183458409
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10166852	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10460375	0.85[EUR][1000 genomes]
rs10460376	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10497608	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10497609	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10754995	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931025	0.81[ASN][1000 genomes]
rs11893013	0.89[ASN][1000 genomes]
rs12617446	0.90[ASN][1000 genomes]
rs12693314	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1405946	0.92[ASN][1000 genomes]
rs1527880	0.87[ASN][1000 genomes]
rs1527882	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1949999	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1997240	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4146244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5022567	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56963248	0.82[ASN][1000 genomes]
rs6433981	0.86[ASN][1000 genomes]
rs7557703	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7587971	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv875479	chr2:183442443-183482466	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875480	chr2:183442443-183489249	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1837855	chr2:183452578-183499313	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv962053	chr2:183457346-183467152	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183456000-183459600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:183456000-183461200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:183456200-183458600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:183456200-183458600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:183456200-183459600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:183456400-183458600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:183456400-183459800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:183456600-183459200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:183456600-183459200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:183456800-183458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:183456800-183458600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:183457000-183458600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:183457200-183459800	Enhancers	NHLF	lung
14	chr2:183457200-183461000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:183457400-183461000	Enhancers	NHDF-Ad	bronchial
16	chr2:183457400-183461200	Enhancers	Osteobl	bone
17	chr2:183457400-183463000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:183457600-183458600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:183457600-183459200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:183457600-183459200	Enhancers	NH-A	brain
21	chr2:183457600-183459600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:183457600-183459600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:183457600-183459600	Enhancers	HMEC	breast
24	chr2:183457600-183459800	Enhancers	NHEK	skin
25	chr2:183457600-183460400	Enhancers	HSMM	muscle
26	chr2:183457600-183461200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:183457800-183458600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:183457800-183458800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:183457800-183459200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:183457800-183459600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:183457800-183460000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:183458200-183459000	Weak transcription	HSMMtube	muscle
33	chr2:183458200-183459200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:183458200-183460600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:183458400-183458600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:183458400-183458600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr2:183458400-183459000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:183458400-183459200	Enhancers	Fetal Stomach	stomach
39	chr2:183458400-183459600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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