Variant report

Variant	rs74027252
Chromosome Location	chr16:71598599-71598600
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	CHD1	chr16:71598337-71599043	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:71598505-71599733	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr16:71598455-71599169	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr16:71598369-71599072	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr16:71598546-71599795	HepG2	liver:	n/a	n/a
6	PAX5	chr16:71598542-71599499	GM12878	blood:	n/a	chr16:71598687-71598696
7	POLR2A	chr16:71598355-71600309	GM12878	blood:	n/a	n/a
8	NFATC1	chr16:71598468-71599169	GM12878	blood:	n/a	n/a
9	WRNIP1	chr16:71598433-71599663	GM12878	blood:	n/a	n/a
10	ARID3A	chr16:71598568-71599910	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:71598521-71599723	GM15510	blood:	n/a	n/a
12	RELA	chr16:71598451-71599723	GM15510	blood:	n/a	n/a
13	MXI1	chr16:71598114-71599946	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr16:71598408-71599730	GM18505	blood:	n/a	n/a
15	RFX5	chr16:71598548-71599068	GM12878	blood:	n/a	chr16:71598835-71598851 chr16:71598837-71598850 chr16:71598836-71598850
16	SIN3A	chr16:71598414-71599432	H1-hESC	embryonic stem cell:	n/a	chr16:71598823-71598831
17	SIN3AK20	chr16:71598258-71599981	MCF-7	breast:	n/a	n/a
18	HDAC2	chr16:71598501-71599128	HepG2	liver:	n/a	chr16:71598681-71598695
19	RAD21	chr16:71598439-71599753	A549	lung:	n/a	chr16:71598937-71598950
20	POLR2A	chr16:71598345-71599936	GM12892	blood:	n/a	n/a
21	ZEB1	chr16:71598472-71599148	GM12878	blood:	n/a	chr16:71599020-71599031 chr16:71598789-71598798 chr16:71598602-71598613 chr16:71598791-71598798
22	NFIC	chr16:71598526-71599171	GM12878	blood:	n/a	n/a
23	POLR2A	chr16:71598454-71599728	GM19099	blood:	n/a	n/a
24	NFYB	chr16:71598529-71599028	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:71598327-71599852	GM12878	blood:	n/a	n/a
26	TCF12	chr16:71598370-71599903	A549	lung:	n/a	n/a
27	POLR2A	chr16:71598430-71599904	GM12878	blood:	n/a	n/a
28	CUX1	chr16:71598579-71599079	GM12878	blood:	n/a	n/a
29	MXI1	chr16:71598368-71600237	GM12878	blood:	n/a	n/a
30	SP1	chr16:71598582-71599154	A549	lung:	n/a	chr16:71598997-71599009
31	TEAD4	chr16:71598528-71599984	HepG2	liver:	n/a	n/a
32	POLR2A	chr16:71598553-71599876	GM12891	blood:	n/a	n/a
33	SMC3	chr16:71598444-71599858	HepG2	liver:	n/a	n/a
34	NRF1	chr16:71598469-71599220	SK-N-SH	brain:	n/a	chr16:71598847-71598861 chr16:71598852-71598861 chr16:71598892-71598903 chr16:71598850-71598861 chr16:71598850-71598864 chr16:71598850-71598859 chr16:71598889-71598903 chr16:71598850-71598861 chr16:71598894-71598903 chr16:71598808-71598822 chr16:71598892-71598903 chr16:71598892-71598906
35	TEAD4	chr16:71598560-71599121	K562	blood:	n/a	n/a
36	EP300	chr16:71598507-71600358	GM12878	blood:	n/a	chr16:71598814-71598830 chr16:71598682-71598696
37	PAX5	chr16:71598508-71599246	GM12878	blood:	n/a	chr16:71598687-71598696
38	TBL1XR1	chr16:71598593-71599182	GM12878	blood:	n/a	n/a
39	POLR2A	chr16:71598513-71599811	GM12892	blood:	n/a	n/a
40	MAZ	chr16:71598472-71599277	IMR90	lung:	n/a	n/a
41	MXI1	chr16:71598466-71599665	HepG2	liver:	n/a	n/a
42	ELF1	chr16:71598397-71599238	HepG2	liver:	n/a	chr16:71598815-71598827
43	POLR2A	chr16:71598528-71599232	U87	brain:	n/a	n/a
44	FOXA1	chr16:71598520-71599130	HepG2	liver:	n/a	n/a
45	ZC3H11A	chr16:71598548-71599100	K562	blood:	n/a	n/a
46	POLR2A	chr16:71598535-71599693	GM19193	blood:	n/a	n/a
47	SPI1	chr16:71598590-71598804	GM12878	blood:	n/a	n/a
48	HEY1	chr16:71598532-71599890	HepG2	liver:	n/a	chr16:71598896-71598911
49	CHD2	chr16:71598475-71599087	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr16:71598586-71599902	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:71598553-71598603	ProgFib	skin:	n/a
2	chr16:71598553-71598603	K562	blood:	n/a
3	chr16:71598553-71598603	SAEC	small airway:	n/a
4	chr16:71598553-71598603	SK-N-MC	brain:	n/a
5	chr16:71598553-71598603	LNCaP	prostate:	n/a
6	chr16:71598553-71598603	GM06990	blood:	n/a
7	chr16:71598553-71598603	HCM	heart:	n/a
8	chr16:71598553-71598603	RPTEC	kidney:	n/a
9	chr16:71598553-71598603	AoSMC	blood vessel:	n/a
10	chr16:71598553-71598603	HRCEpiC	kidney:	n/a
11	chr16:71598553-71598603	BE2_C	brain:	n/a
12	chr16:71598553-71598603	HCF	heart:	n/a
13	chr16:71598553-71598603	GM12878	blood:	n/a
14	chr16:71598553-71598603	NB4	blood:	n/a
15	chr16:71598553-71598603	HPAEpiC	pulmonary alveolar:	n/a
16	chr16:71598553-71598603	NHDF-neo	bronchial:	n/a
17	chr16:71598553-71598603	NH-A	brain:	n/a
18	chr16:71598553-71598603	PANC-1	pancreas:	n/a
19	chr16:71598553-71598603	AG09309	skin:	n/a
20	chr16:71598553-71598603	HEEpiC	esophagus:	n/a
21	chr16:71598553-71598603	AG04450	lung:	fetal
22	chr16:71598553-71598603	ECC-1	luminal epithelium:	n/a
23	chr16:71598553-71598603	SK-N-SH	brain:	n/a
24	chr16:71598553-71598603	T-47D	breast:	n/a
25	chr16:71598553-71598603	MCF-7	breast:	n/a
26	chr16:71598553-71598603	MCF10A-Er-Src	breast:	n/a
27	chr16:71598553-71598603	Jurkat	blood:	n/a
28	chr16:71598553-71598603	AG04449	skin:	fetal
29	chr16:71598553-71598603	ovcar-3	ovarian:	n/a
30	chr16:71598553-71598603	HUVEC	blood vessel:	n/a
31	chr16:71598553-71598603	HAEpiC	amniotic membrane:	n/a
32	chr16:71598553-71598603	Caco-2	colon:	n/a
33	chr16:71598553-71598603	Hepatocyte	liver:	n/a
34	chr16:71598553-71598603	GM19239	blood:	n/a
35	chr16:71598553-71598603	SKMC	muscle:	n/a
36	chr16:71598553-71598603	PrEC	prostate:	n/a
37	chr16:71598553-71598603	HRPEpiC	eye:	n/a
38	chr16:71598553-71598603	HCPEpiC	choroid plexus:	n/a
39	chr16:71598553-71598603	Hela-S3	cervix:	n/a
40	chr16:71598553-71598603	BJ	skin:	n/a
41	chr16:71598553-71598603	GM12892	blood:	n/a
42	chr16:71598553-71598603	PFSK-1	brain:	n/a
43	chr16:71598553-71598603	CMK	blood:	n/a
44	chr16:71598553-71598603	GM12891	blood:	n/a
45	chr16:71598553-71598603	NT2-D1	testis:	n/a
46	chr16:71598553-71598603	SK-N-SH_RA	brain:	n/a
47	chr16:71598553-71598603	HNPCEpiC	eye:	n/a
48	chr16:71598553-71598603	AG10803	skin:	n/a
49	chr16:71598553-71598603	HL-60	blood:	n/a
50	chr16:71598553-71598603	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71597451..71600395-chr16:71660172..71663639,3	MCF-7	breast:
2	chr16:71516991..71518687-chr16:71598041..71600179,2	K562	blood:
3	chr16:71598139..71600865-chr16:71657563..71661455,3	MCF-7	breast:
4	chr16:71596326..71598942-chr16:71602186..71604284,2	K562	blood:
5	chr16:71596888..71600063-chr16:71602973..71605498,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260886	TF binding region
RNU6-1061P	TF binding region
RNU6-1061P	CpG island
ENSG00000260886	CpG island
ENSG00000198650	Chromatin interaction
ENSG00000260593	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000157429	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58577972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58631676	1.00[AMR][1000 genomes]
rs59676185	1.00[AMR][1000 genomes]
rs59786870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027273	1.00[AMR][1000 genomes]
rs74027275	1.00[AMR][1000 genomes]
rs74027296	1.00[AMR][1000 genomes]
rs74027297	1.00[AMR][1000 genomes]
rs74027299	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71598000-71598600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:71598000-71598600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr16:71598000-71598600	Flanking Active TSS	GM12878-XiMat	blood
4	chr16:71598000-71598800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:71598000-71598800	Flanking Active TSS	Dnd41	blood
6	chr16:71598000-71599600	Active TSS	Fetal Brain Female	brain
7	chr16:71598000-71599600	Active TSS	Fetal Intestine Large	intestine
8	chr16:71598000-71599800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr16:71598000-71599800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr16:71598000-71600200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr16:71598200-71598600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr16:71598200-71598600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:71598200-71598600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:71598200-71598600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr16:71598200-71598600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:71598200-71598600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:71598200-71598600	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr16:71598200-71598600	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr16:71598200-71598600	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr16:71598200-71598600	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr16:71598200-71598600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr16:71598200-71598600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr16:71598200-71598600	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr16:71598200-71598600	Active TSS	Right Atrium	heart
25	chr16:71598200-71598600	Flanking Active TSS	Small Intestine	intestine
26	chr16:71598200-71598600	Flanking Active TSS	Thymus	Thymus
27	chr16:71598200-71598600	Flanking Active TSS	HMEC	breast
28	chr16:71598200-71598800	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr16:71598200-71598800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr16:71598200-71598800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr16:71598200-71598800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:71598200-71598800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr16:71598200-71598800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr16:71598200-71598800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr16:71598200-71598800	Flanking Active TSS	Stomach Mucosa	stomach
36	chr16:71598200-71599000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr16:71598200-71599200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:71598200-71599200	Active TSS	Fetal Brain Male	brain
39	chr16:71598200-71599400	Active TSS	Brain Substantia Nigra	brain
40	chr16:71598200-71599600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr16:71598200-71599600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:71598200-71599600	Active TSS	Fetal Lung	lung
43	chr16:71598200-71599800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr16:71598200-71599800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr16:71598200-71599800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr16:71598200-71599800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:71598200-71600000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr16:71598400-71598600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr16:71598400-71598600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr16:71598400-71598600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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