Variant report

Variant	rs152827
Chromosome Location	chr16:72126753-72126754
allele	C/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	POLR2A	chr16:72126738-72128525	Hela-S3	cervix:	n/a	n/a
2	GABPA	chr16:72126579-72128509	A549	lung:	n/a	chr16:72127456-72127470
3	MAX	chr16:72126746-72128157	A549	lung:	n/a	chr16:72127351-72127360
4	GABPA	chr16:72126596-72128376	MCF-7	breast:	n/a	chr16:72127456-72127470
5	POLR2A	chr16:72126706-72128450	K562	blood:	n/a	n/a
6	MXI1	chr16:72126245-72128714	SK-N-SH	brain:	n/a	n/a
7	RCOR1	chr16:72126650-72128249	Hela-S3	cervix:	n/a	n/a
8	PBX3	chr16:72126596-72127157	SK-N-SH	brain:	n/a	chr16:72126862-72126882
9	MXI1	chr16:72126742-72128794	IMR90	lung:	n/a	n/a
10	MYC	chr16:72126658-72128113	K562	blood:	n/a	chr16:72127351-72127360
11	POLR2A	chr16:72126453-72128718	GM12878	blood:	n/a	n/a
12	GABPA	chr16:72126637-72128318	SK-N-SH	brain:	n/a	chr16:72127456-72127470
13	GABPA	chr16:72126730-72128257	A549	lung:	n/a	chr16:72127456-72127470
14	NFYA	chr16:72126454-72127146	Hela-S3	cervix:	n/a	n/a
15	NFYA	chr16:72126501-72127105	K562	blood:	n/a	n/a
16	POLR2A	chr16:72126745-72128568	H1-hESC	embryonic stem cell:	n/a	n/a
17	GABPA	chr16:72126540-72128603	MCF-7	breast:	n/a	chr16:72127456-72127470
18	CREB1	chr16:72126656-72128309	HepG2	liver:	n/a	n/a
19	MAFK	chr16:72126703-72126926	HepG2	liver:	n/a	n/a
20	MAZ	chr16:72126608-72128330	K562	blood:	n/a	chr16:72127351-72127360
21	GABPA	chr16:72126655-72128289	SK-N-SH	brain:	n/a	chr16:72127456-72127470
22	IRF1	chr16:72126582-72128040	K562	blood:	n/a	chr16:72126615-72126627 chr16:72127291-72127302 chr16:72127465-72127479 chr16:72127432-72127452
23	SMARCC1	chr16:72126711-72128320	Hela-S3	cervix:	n/a	n/a
24	HA-E2F1	chr16:72126707-72128113	MCF-7	breast:	n/a	chr16:72127898-72127908 chr16:72127896-72127905 chr16:72127808-72127817
25	TEAD4	chr16:72126513-72127977	HepG2	liver:	n/a	n/a
26	ARID3A	chr16:72126520-72127967	HepG2	liver:	n/a	n/a
27	SMC3	chr16:72126676-72127014	HepG2	liver:	n/a	n/a
28	TEAD4	chr16:72126673-72128226	K562	blood:	n/a	n/a
29	MAFK	chr16:72126539-72126853	Hela-S3	cervix:	n/a	n/a
30	PBX3	chr16:72126533-72128045	SK-N-SH	brain:	n/a	chr16:72126862-72126882
31	CREB1	chr16:72126732-72128484	HepG2	liver:	n/a	n/a
32	HCFC1	chr16:72126568-72128709	Hela-S3	cervix:	n/a	n/a
33	IRF1	chr16:72126445-72128033	K562	blood:	n/a	chr16:72126615-72126627 chr16:72127291-72127302 chr16:72127465-72127479 chr16:72127432-72127452
34	IRF1	chr16:72126641-72128408	K562	blood:	n/a	chr16:72127291-72127302 chr16:72127465-72127479 chr16:72127432-72127452
35	SIN3AK20	chr16:72126684-72128449	MCF-7	breast:	n/a	n/a
36	NFYB	chr16:72126459-72126981	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr16:72126716-72128548	MCF10A-Er-Src	breast:	n/a	n/a
38	SIN3AK20	chr16:72126675-72128325	MCF-7	breast:	n/a	n/a
39	MAZ	chr16:72126160-72128982	IMR90	lung:	n/a	chr16:72127351-72127360

No.	Distal block	Cell Line	Cell type
1	chr16:72087766..72090367-chr16:72125547..72128434,2	K562	blood:
2	chr16:72099750..72107853-chr16:72126502..72131093,10	MCF-7	breast:
3	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:
4	chr16:72083527..72085440-chr16:72125131..72126986,2	MCF-7	breast:
5	chr16:72040983..72044286-chr16:72126039..72129128,5	MCF-7	breast:
6	chr16:72049013..72051278-chr16:72125940..72127742,2	MCF-7	breast:
7	chr16:72088867..72091285-chr16:72125547..72127887,2	K562	blood:
8	chr16:71840719..71844104-chr16:72124883..72128411,3	K562	blood:

Variant related genes	Relation type
DHX38	TF binding region
ENSG00000102967	Chromatin interaction
ENSG00000257017	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000261701	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs150617	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs152826	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs152828	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs152838	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs30433	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	esv1808086	chr16:72088669-72128767	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
10	esv3343168	chr16:72111500-72128436	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72120600-72126800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:72125200-72126800	Enhancers	Esophagus	oesophagus
3	chr16:72125400-72126800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:72125600-72126800	Flanking Active TSS	Hela-S3	cervix
5	chr16:72125600-72127000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr16:72125800-72127000	Flanking Active TSS	Dnd41	blood
7	chr16:72125800-72128800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:72126000-72126800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:72126000-72126800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr16:72126000-72126800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:72126000-72126800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:72126000-72126800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr16:72126000-72126800	Enhancers	Placenta	Placenta
14	chr16:72126000-72127000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr16:72126200-72126800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:72126200-72126800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr16:72126200-72126800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:72126200-72126800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr16:72126200-72126800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr16:72126200-72126800	Flanking Active TSS	NHEK	skin
21	chr16:72126200-72127000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr16:72126200-72127000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:72126200-72127000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr16:72126200-72127000	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr16:72126200-72127000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr16:72126200-72127000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr16:72126200-72128400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:72126200-72128400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr16:72126200-72128600	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr16:72126200-72128600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:72126200-72128800	Active TSS	Ovary	ovary
32	chr16:72126200-72128800	Active TSS	Right Atrium	heart
33	chr16:72126200-72128800	Active TSS	NHLF	lung
34	chr16:72126200-72129000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:72126200-72129000	Active TSS	Right Ventricle	heart
36	chr16:72126200-72129000	Active TSS	HSMM	muscle
37	chr16:72126200-72129400	Active TSS	Psoas Muscle	Psoas
38	chr16:72126400-72126800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
39	chr16:72126400-72126800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:72126400-72126800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr16:72126400-72126800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr16:72126400-72126800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:72126400-72126800	Flanking Active TSS	Colonic Mucosa	Colon
44	chr16:72126400-72126800	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr16:72126400-72126800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr16:72126400-72126800	Flanking Active TSS	Fetal Kidney	kidney
47	chr16:72126400-72126800	Flanking Active TSS	Fetal Lung	lung
48	chr16:72126400-72126800	Flanking Active TSS	Fetal Stomach	stomach
49	chr16:72126400-72126800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr16:72126400-72126800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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