Variant report

Variant	rs12470235
Chromosome Location	chr2:54647264-54647265
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54629042..54631678-chr2:54646319..54649301,2	K562	blood:
2	chr2:54629237..54631678-chr2:54647068..54649301,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10181826	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496030	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11125539	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs11694121	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13393949	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35636918	0.90[EUR][1000 genomes]
rs4505569	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56257354	0.88[EUR][1000 genomes]
rs72804673	0.87[EUR][1000 genomes]
rs72804674	0.87[EUR][1000 genomes]
rs7419821	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7560205	0.87[ASN][1000 genomes]
rs7560669	0.89[ASN][1000 genomes]
rs7574630	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54639400-54657200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:54641200-54647800	Enhancers	HUVEC	blood vessel
3	chr2:54641800-54647600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:54644000-54648000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:54644000-54648000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:54644000-54649200	Weak transcription	Spleen	Spleen
7	chr2:54644400-54647400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:54646600-54647400	Enhancers	Brain Hippocampus Middle	brain
9	chr2:54646600-54647400	Enhancers	Brain Substantia Nigra	brain
10	chr2:54646600-54647600	Enhancers	Fetal Heart	heart
11	chr2:54646600-54648000	Enhancers	Adipose Nuclei	Adipose
12	chr2:54646600-54648000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:54646600-54648000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:54646600-54648000	Enhancers	Fetal Stomach	stomach
15	chr2:54646600-54648200	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:54646600-54648200	Enhancers	NHLF	lung
17	chr2:54646600-54648800	Enhancers	Fetal Lung	lung
18	chr2:54646800-54647400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:54646800-54647400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:54646800-54647400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:54646800-54647800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:54646800-54648200	Enhancers	Brain Angular Gyrus	brain
23	chr2:54647000-54647600	Flanking Active TSS	NHDF-Ad	bronchial
24	chr2:54647000-54647800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:54647000-54647800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:54647200-54647400	Enhancers	Left Ventricle	heart
27	chr2:54647200-54647400	Enhancers	Lung	lung
28	chr2:54647200-54647400	Flanking Active TSS	HSMMtube	muscle
29	chr2:54647200-54647800	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:54647200-54648000	Enhancers	Right Atrium	heart
31	chr2:54647200-54648400	Enhancers	Right Ventricle	heart
32	chr2:54647200-54648800	Enhancers	Ovary	ovary
33	chr2:54647200-54650200	Weak transcription	Fetal Brain Male	brain

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