Variant report

Variant	rs72632833
Chromosome Location	chr1:227810443-227810444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2644149	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58387881	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68170204	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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	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	nsv945673	chr1:227799341-227819395	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 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	chr1:227800200-227820600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:227800400-227814200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:227801200-227821800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:227805200-227812200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:227805800-227823600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:227806000-227812000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:227806000-227812000	Weak transcription	Pancreas	Pancrea
10	chr1:227806200-227811800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:227808200-227811800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:227808600-227812200	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr1:227809000-227810600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr1:227809000-227811200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
15	chr1:227809000-227812600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:227809200-227810800	ZNF genes & repeats	Liver	Liver
17	chr1:227809200-227811600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:227809200-227812200	Weak transcription	Esophagus	oesophagus
19	chr1:227809200-227814200	Weak transcription	Left Ventricle	heart
20	chr1:227809200-227815000	Weak transcription	Ovary	ovary
21	chr1:227809400-227812200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:227809800-227812200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:227809800-227812400	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr1:227809800-227814600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:227810000-227811200	ZNF genes & repeats	Fetal Lung	lung
26	chr1:227810400-227810600	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr1:227810400-227810800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:227810400-227810800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
29	chr1:227810400-227810800	ZNF genes & repeats	Aorta	Aorta
30	chr1:227810400-227810800	ZNF genes & repeats	Small Intestine	intestine
31	chr1:227810400-227813400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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