Variant report

Variant	rs59013680
Chromosome Location	chr1:147407709-147407710
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28622223	0.87[ASN][1000 genomes]
rs4494192	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59921678	0.91[AMR][1000 genomes]
rs74123746	0.91[AMR][1000 genomes]
rs74123747	0.91[AMR][1000 genomes]
rs74123751	0.91[AMR][1000 genomes]
rs74123752	0.91[AMR][1000 genomes]
rs74123753	0.91[AMR][1000 genomes];0.86[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	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv916870	chr1:147245576-147828089	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	210 gene(s)	inside rSNPs	diseases
4	esv1805360	chr1:147259638-148026038	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	225 gene(s)	inside rSNPs	diseases
5	esv1830125	chr1:147259638-148215245	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	227 gene(s)	inside rSNPs	diseases
6	nsv1000564	chr1:147339968-147831171	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	209 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147401200-147411400	Weak transcription	Ovary	ovary
2	chr1:147401200-147411600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:147401200-147413200	Weak transcription	Fetal Stomach	stomach
4	chr1:147401200-147420200	Weak transcription	Fetal Thymus	thymus
5	chr1:147401200-147423000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:147401200-147423600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:147401400-147409400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:147401400-147409400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:147401400-147419800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:147401800-147411200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:147401800-147411400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:147401800-147411400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:147401800-147413200	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:147401800-147415000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:147401800-147418600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:147401800-147420000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:147401800-147420000	Weak transcription	Adipose Nuclei	Adipose
18	chr1:147401800-147420000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:147401800-147421000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:147401800-147422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:147401800-147422200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:147402000-147409600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:147402000-147418600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:147402000-147419800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:147402000-147420000	Weak transcription	Brain Anterior Caudate	brain
26	chr1:147402000-147424000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:147402200-147411200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:147402200-147420000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:147402400-147409200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:147402400-147416000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:147402400-147418400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:147402400-147420000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:147402600-147409400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:147402600-147413200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:147402600-147420000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:147403000-147417800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:147403200-147420000	Weak transcription	Liver	Liver
38	chr1:147403200-147422200	Weak transcription	Dnd41	blood
39	chr1:147403600-147413200	Weak transcription	GM12878-XiMat	blood
40	chr1:147404200-147415200	Weak transcription	Fetal Intestine Large	intestine
41	chr1:147404400-147413600	Weak transcription	Fetal Intestine Small	intestine
42	chr1:147404600-147417800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:147404800-147409600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:147404800-147420000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:147405200-147416800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:147405200-147420200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:147405400-147411800	Weak transcription	Primary T cells from cord blood	blood

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