Variant report

Variant	rs60790626
Chromosome Location	chr1:227821082-227821083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56729613	1.00[AMR][1000 genomes]
rs58129384	1.00[AMR][1000 genomes]
rs58809314	1.00[AMR][1000 genomes]
rs60397612	1.00[AMR][1000 genomes]
rs61562662	1.00[AMR][1000 genomes]
rs61574768	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61744724	1.00[AMR][1000 genomes]
rs73090918	1.00[AMR][1000 genomes]
rs73090923	1.00[AMR][1000 genomes]
rs73090939	1.00[AMR][1000 genomes]
rs7526007	1.00[AMR][1000 genomes]
rs7527737	1.00[AMR][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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv945342	chr1:227819395-227829907	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227801200-227821800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:227805800-227823600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:227811800-227830600	ZNF genes & repeats	Liver	Liver
6	chr1:227815200-227828800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:227817400-227821200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
8	chr1:227818600-227822200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr1:227818600-227822600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:227818600-227830600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr1:227818600-227834200	ZNF genes & repeats	Fetal Brain Female	brain
12	chr1:227818800-227822800	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr1:227819000-227822400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:227819400-227823800	ZNF genes & repeats	Fetal Muscle Leg	muscle
15	chr1:227819800-227822000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr1:227819800-227825200	ZNF genes & repeats	Aorta	Aorta
17	chr1:227819800-227837600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:227820000-227822000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:227820000-227822200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:227820000-227822800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:227820000-227822800	ZNF genes & repeats	Lung	lung
22	chr1:227820000-227823600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr1:227820000-227823800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr1:227820000-227823800	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr1:227820000-227829200	ZNF genes & repeats	Fetal Stomach	stomach
26	chr1:227820200-227821400	Weak transcription	Colonic Mucosa	Colon
27	chr1:227820200-227822600	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr1:227820200-227830400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr1:227820200-227831400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr1:227820400-227824400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:227820600-227821400	Weak transcription	Fetal Lung	lung
32	chr1:227820600-227821600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:227820600-227822000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:227820600-227822000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr1:227820600-227822400	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:227820600-227822600	ZNF genes & repeats	Brain Hippocampus Middle	brain
37	chr1:227820600-227822600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
38	chr1:227820600-227822600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr1:227820600-227823000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr1:227820600-227825200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
41	chr1:227820600-227861600	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr1:227820800-227821600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
43	chr1:227820800-227821800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
44	chr1:227820800-227822400	ZNF genes & repeats	Left Ventricle	heart
45	chr1:227820800-227823600	ZNF genes & repeats	Gastric	stomach

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