Variant report

Variant	rs34748765
Chromosome Location	chr2:54630133-54630134
allele	CA/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54569839..54572791-chr2:54629016..54630836,2	K562	blood:
2	chr2:54628611..54630630-chr2:54636433..54637977,2	K562	blood:
3	chr2:54629237..54631678-chr2:54647068..54649301,2	K562	blood:
4	chr2:54629042..54631678-chr2:54646319..54649301,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10198148	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10198625	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10203844	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10779939	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10865283	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11125538	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11674998	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12713257	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13392262	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3951717	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233947	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4233948	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4315567	0.88[ASN][1000 genomes]
rs4359699	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4417755	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4439997	0.82[ASN][1000 genomes]
rs4450644	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4588223	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671213	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671214	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671215	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671923	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671924	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671926	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671928	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6545401	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6545403	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710292	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6718253	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6734097	0.88[ASN][1000 genomes]
rs6748228	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6752877	0.88[ASN][1000 genomes]
rs6760027	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7565489	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7576075	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7592359	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7592641	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7595929	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7597837	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7601198	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7607093	0.88[ASN][1000 genomes]
rs8179723	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9677336	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9677338	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9677960	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9679192	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54615400-54643000	Weak transcription	Right Ventricle	heart
2	chr2:54618600-54647200	Weak transcription	Left Ventricle	heart
3	chr2:54623600-54643000	Weak transcription	Lung	lung
4	chr2:54626000-54630600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:54627800-54630800	Enhancers	Ovary	ovary
6	chr2:54628000-54630200	Enhancers	Fetal Stomach	stomach
7	chr2:54628000-54631200	Enhancers	NHLF	lung
8	chr2:54628200-54630800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:54628400-54630400	Enhancers	Adipose Nuclei	Adipose
10	chr2:54628400-54630600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:54628400-54630600	Enhancers	Fetal Lung	lung
12	chr2:54629000-54631200	Enhancers	NHDF-Ad	bronchial
13	chr2:54629200-54630400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:54629200-54630600	Enhancers	Fetal Muscle Leg	muscle
15	chr2:54629200-54630600	Enhancers	Osteobl	bone
16	chr2:54629400-54630200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:54629400-54630600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:54629400-54630600	Enhancers	Spleen	Spleen
19	chr2:54629600-54630800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:54629600-54631200	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:54629600-54631800	Enhancers	Brain Hippocampus Middle	brain
22	chr2:54629800-54630200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:54629800-54630600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:54630000-54630800	Bivalent Enhancer	HepG2	liver
25	chr2:54630000-54631000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:54630000-54634200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:54630000-54634800	Weak transcription	HSMMtube	muscle
28	chr2:54630000-54638800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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