Variant report

Variant	rs2269918
Chromosome Location	chr16:72134831-72134832
allele	G/T
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	POLR2A	chr16:72134640-72134918	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72133291..72136236-chr16:72141533..72144792,4	K562	blood:
2	chr16:72134347..72135953-chr16:72140666..72142742,2	MCF-7	breast:

Variant related genes	Relation type
DHX38	TF binding region
ENSG00000140829	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10492813	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10492814	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1050361	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1050362	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1050363	0.96[ASN][1000 genomes]
rs11862813	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12325142	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12445586	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12448315	0.81[AMR][1000 genomes]
rs12708925	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12708926	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12708927	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12708928	0.84[AMR][1000 genomes]
rs12924413	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12932845	0.89[ASN][1000 genomes]
rs2072141	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072142	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2074626	0.83[AMR][1000 genomes]
rs2074627	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2240243	0.82[AMR][1000 genomes]
rs2241411	0.87[ASN][1000 genomes]
rs2241412	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2303285	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2550035	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2550038	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3764311	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3764312	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3764314	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812986	0.83[ASN][1000 genomes]
rs3852781	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4788461	0.83[ASN][1000 genomes]
rs6499559	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6499560	0.82[AMR][1000 genomes]
rs6499561	0.81[EUR][1000 genomes]
rs6680	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7190995	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7191127	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7192730	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7194397	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7194668	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7940	0.89[ASN][1000 genomes]
rs8043606	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8047377	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8051882	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8058609	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8059378	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8059437	0.88[ASN][1000 genomes]
rs8060770	0.84[ASN][1000 genomes]
rs9925763	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9926156	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9926927	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9928157	0.88[ASN][1000 genomes]
rs9930890	0.86[ASN][1000 genomes]
rs9932062	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941346	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72128800-72136000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:72129200-72135000	Strong transcription	Fetal Muscle Leg	muscle
3	chr16:72129400-72138800	Weak transcription	Right Atrium	heart
4	chr16:72129400-72147800	Strong transcription	Primary T cells from cord blood	blood
5	chr16:72129600-72135600	Strong transcription	Primary B cells from cord blood	blood
6	chr16:72129800-72135400	Weak transcription	Fetal Heart	heart
7	chr16:72129800-72145600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:72129800-72146000	Strong transcription	HSMMtube	muscle
9	chr16:72129800-72146600	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr16:72129800-72147000	Strong transcription	Ovary	ovary
11	chr16:72129800-72147200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr16:72129800-72147600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:72129800-72147800	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr16:72129800-72148200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:72129800-72149000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:72130000-72135600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr16:72130000-72137000	Strong transcription	NHDF-Ad	bronchial
18	chr16:72130000-72139000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
19	chr16:72130000-72140600	Strong transcription	Fetal Kidney	kidney
20	chr16:72130000-72140600	Strong transcription	K562	blood
21	chr16:72130000-72144800	Strong transcription	Fetal Intestine Large	intestine
22	chr16:72130000-72144800	Strong transcription	Fetal Intestine Small	intestine
23	chr16:72130000-72145600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:72130000-72146400	Strong transcription	Colon Smooth Muscle	Colon
25	chr16:72130000-72146600	Strong transcription	HUVEC	blood vessel
26	chr16:72130000-72146800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:72130000-72146800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr16:72130000-72147000	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr16:72130000-72147000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr16:72130000-72147000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:72130000-72147000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:72130000-72147000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:72130000-72147000	Strong transcription	Esophagus	oesophagus
34	chr16:72130000-72147000	Strong transcription	NHEK	skin
35	chr16:72130000-72147200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr16:72130000-72147200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:72130000-72147200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:72130000-72147200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:72130000-72147200	Strong transcription	Aorta	Aorta
40	chr16:72130000-72147200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr16:72130000-72147200	Strong transcription	Brain Substantia Nigra	brain
42	chr16:72130000-72147200	Strong transcription	Fetal Lung	lung
43	chr16:72130000-72147200	Strong transcription	Left Ventricle	heart
44	chr16:72130000-72147400	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr16:72130000-72147400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:72130000-72147400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:72130000-72147400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:72130000-72147400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:72130000-72147400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:72130000-72147400	Strong transcription	Adipose Nuclei	Adipose

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