Variant report

Variant	rs72889339
Chromosome Location	chr2:182546289-182546290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr2:182546084-182546431	H1-hESC	embryonic stem cell:	n/a	chr2:182546240-182546249
2	CHD2	chr2:182545091-182546434	H1-hESC	embryonic stem cell:	n/a	chr2:182545690-182545700 chr2:182546240-182546249
3	SUZ12	chr2:182543491-182550280	NT2-D1	testis:	n/a	n/a
4	SUZ12	chr2:182545142-182546680	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:182546283-182546327	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr2:182545133-182546496	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA4-1	chr2:182545394-182546506	NONHSAT075881

Variant related genes	Relation type
CERKL	TF binding region
NEUROD1	TF binding region
ENSG00000234595	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs72885335	1.00[EUR][1000 genomes]
rs72885340	0.83[EUR][1000 genomes]
rs72885341	1.00[EUR][1000 genomes]
rs72889387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891039	1.00[AMR][1000 genomes]
rs72891051	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182543600-182550200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:182545000-182547200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr2:182545000-182548000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:182545000-182548400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
5	chr2:182545200-182546400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr2:182545200-182546400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:182545200-182546400	Bivalent Enhancer	Left Ventricle	heart
8	chr2:182545200-182546400	Bivalent Enhancer	Spleen	Spleen
9	chr2:182545200-182546600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:182545200-182546600	Bivalent Enhancer	Lung	lung
11	chr2:182545200-182548200	Enhancers	Pancreas	Pancrea
12	chr2:182545200-182549000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr2:182545200-182549800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:182545200-182550000	Bivalent Enhancer	Fetal Thymus	thymus
15	chr2:182545200-182550200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:182545200-182550400	Bivalent Enhancer	Fetal Brain Male	brain
17	chr2:182545400-182546400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr2:182545400-182549400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:182545600-182546400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:182545600-182546400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
21	chr2:182545600-182546600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:182545600-182546600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:182545600-182546600	Bivalent Enhancer	Esophagus	oesophagus
24	chr2:182545600-182546600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
25	chr2:182545600-182546800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr2:182545600-182547600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
27	chr2:182545800-182546400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr2:182545800-182546400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr2:182545800-182546400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:182545800-182546400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
31	chr2:182545800-182546400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr2:182545800-182546400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:182545800-182546400	Bivalent/Poised TSS	Thymus	Thymus
34	chr2:182545800-182546400	Bivalent Enhancer	HMEC	breast
35	chr2:182545800-182546600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
36	chr2:182545800-182546600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr2:182545800-182546800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr2:182545800-182547000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:182545800-182549400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr2:182546000-182546400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:182546000-182546400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr2:182546000-182546400	Bivalent Enhancer	Adipose Nuclei	Adipose
43	chr2:182546000-182546400	Bivalent Enhancer	Fetal Intestine Small	intestine
44	chr2:182546000-182546400	Bivalent Enhancer	Right Ventricle	heart
45	chr2:182546000-182546400	Bivalent Enhancer	NHEK	skin
46	chr2:182546000-182546600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
47	chr2:182546000-182546600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:182546000-182546600	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr2:182546000-182546600	Bivalent Enhancer	Psoas Muscle	Psoas
50	chr2:182546000-182546800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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