Variant report

Variant	rs2081223
Chromosome Location	chr16:72055532-72055533
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	chr16:72049079..72050661-chr16:72053273..72055567,2	K562	blood:

Variant related genes	Relation type
ENSG00000102967	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10048111	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10048144	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12162087	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12443622	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12446480	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12917999	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12930205	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12930702	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2070937	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2081222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236765	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2287998	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2287999	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2288000	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2288001	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2288002	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs251033	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2550868	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2550869	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2550870	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2550876	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3890860	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4788458	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4788598	0.83[AFR][1000 genomes]
rs56139130	0.82[ASN][1000 genomes]
rs6499557	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7185840	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7188962	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7189115	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7189591	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7190994	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7199261	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7200854	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7201643	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7201866	0.85[ASN][1000 genomes]
rs7202268	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7203426	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7203821	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7350838	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8053907	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8182213	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9924964	0.85[ASN][1000 genomes]
rs9932951	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9938382	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	esv1843253	chr16:72042428-72059149	Strong transcription Weak transcription Active TSS Enhancers 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72043000-72063000	Weak transcription	Small Intestine	intestine
2	chr16:72043200-72056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:72043200-72056600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr16:72043200-72057400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:72043200-72057800	Weak transcription	NHDF-Ad	bronchial
6	chr16:72043200-72061200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:72043200-72062800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:72043200-72069800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:72043200-72069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:72043600-72075200	Weak transcription	Fetal Brain Male	brain
11	chr16:72043800-72056800	Weak transcription	HSMM	muscle
12	chr16:72044000-72057400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr16:72045600-72059400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:72045600-72060200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:72045600-72060400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:72045600-72060600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:72045600-72062200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:72045600-72062400	Strong transcription	Dnd41	blood
19	chr16:72045800-72060200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:72045800-72060400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr16:72045800-72060400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:72045800-72064200	Strong transcription	Fetal Stomach	stomach
23	chr16:72046000-72060200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr16:72046000-72064000	Strong transcription	Primary T cells from cord blood	blood
25	chr16:72046400-72060200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr16:72046400-72062200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:72047400-72059000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr16:72047800-72062000	Strong transcription	Thymus	Thymus
29	chr16:72047800-72062200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr16:72048000-72057400	Weak transcription	Colonic Mucosa	Colon
31	chr16:72048000-72058600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr16:72048000-72060400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr16:72048000-72063000	Weak transcription	NH-A	brain
34	chr16:72048200-72060400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:72048600-72059800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:72048600-72060200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr16:72048600-72063800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:72048800-72056200	Weak transcription	Placenta	Placenta
39	chr16:72048800-72056600	Weak transcription	HSMMtube	muscle
40	chr16:72048800-72060600	Weak transcription	Fetal Heart	heart
41	chr16:72049000-72060200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr16:72049200-72062000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr16:72049600-72062600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:72050200-72056200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr16:72050200-72056800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:72050600-72062600	Strong transcription	Fetal Muscle Leg	muscle
47	chr16:72051000-72062600	Strong transcription	Left Ventricle	heart
48	chr16:72051200-72060200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr16:72051400-72056800	Weak transcription	NHEK	skin
50	chr16:72051400-72061000	Weak transcription	HMEC	breast

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