Variant report

Variant	rs9924352
Chromosome Location	chr16:70438567-70438568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr16:70438325-70438601	K562	blood:	n/a	n/a
2	CUX1	chr16:70438261-70438585	K562	blood:	n/a	n/a
3	RCOR1	chr16:70438134-70438712	K562	blood:	n/a	n/a
4	POLR2A	chr16:70438131-70438706	U87	brain:	n/a	n/a
5	POLR2A	chr16:70438072-70438582	GM12892	blood:	n/a	n/a
6	POLR2A	chr16:70438083-70438717	HL-60	blood:	n/a	n/a
7	PBX3	chr16:70438057-70438812	SK-N-SH	brain:	n/a	n/a
8	FOS	chr16:70438242-70438703	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr16:70438060-70438666	GM12878	blood:	n/a	n/a
10	PAX5	chr16:70438146-70438748	GM12878	blood:	n/a	n/a
11	POU2F2	chr16:70437998-70438885	GM12878	blood:	n/a	chr16:70438372-70438385
12	POLR2A	chr16:70437691-70438722	GM12892	blood:	n/a	n/a
13	BACH1	chr16:70438211-70438748	K562	blood:	n/a	n/a
14	PML	chr16:70438134-70438667	K562	blood:	n/a	n/a
15	POLR2A	chr16:70438089-70438677	GM12892	blood:	n/a	n/a
16	PBX3	chr16:70437990-70438810	SK-N-SH	brain:	n/a	n/a
17	ATF2	chr16:70437756-70438698	GM12878	blood:	n/a	n/a
18	FOS	chr16:70438375-70438691	MCF10A-Er-Src	breast:	n/a	n/a
19	BHLHE40	chr16:70438190-70438615	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:70437709-70438755	GM12891	blood:	n/a	n/a
21	RAD21	chr16:70438117-70438599	SK-N-SH_RA	brain:	n/a	n/a
22	MYC	chr16:70438358-70438646	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr16:70438178-70438591	GM12878	blood:	n/a	n/a
24	SPI1	chr16:70438020-70438747	GM12878	blood:	n/a	n/a
25	TCF3	chr16:70438140-70438635	GM12878	blood:	n/a	n/a
26	TEAD4	chr16:70438053-70438772	K562	blood:	n/a	n/a
27	ATF1	chr16:70438213-70438656	K562	blood:	n/a	n/a
28	SP1	chr16:70438152-70438592	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:70438191-70438587	GM12878	blood:	n/a	n/a
30	RELA	chr16:70437919-70438704	GM19099	blood:	n/a	n/a
31	GATA1	chr16:70438060-70438755	PBDE	blood:	n/a	n/a
32	FOS	chr16:70438242-70438724	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT1	chr16:70438264-70438742	K562	blood:	n/a	n/a
34	JUN	chr16:70438265-70438624	K562	blood:	n/a	n/a
35	TRIM28	chr16:70438190-70438647	K562	blood:	n/a	n/a
36	MAFK	chr16:70438347-70438768	IMR90	lung:	n/a	chr16:70438578-70438593
37	NFATC1	chr16:70438026-70438634	GM12878	blood:	n/a	n/a
38	SPI1	chr16:70438337-70438634	K562	blood:	n/a	n/a
39	CEBPB	chr16:70437644-70438765	GM12878	blood:	n/a	chr16:70437665-70437676
40	POLR2A	chr16:70437762-70438865	GM12878	blood:	n/a	n/a
41	MAFF	chr16:70438059-70438768	K562	blood:	n/a	chr16:70438577-70438595
42	EP300	chr16:70437980-70438616	GM12878	blood:	n/a	n/a
43	SPI1	chr16:70438293-70438680	HL-60	blood:	n/a	n/a
44	MYC	chr16:70438292-70438567	K562	blood:	n/a	n/a
45	CEBPD	chr16:70438190-70438642	K562	blood:	n/a	n/a
46	POLR2A	chr16:70438176-70438586	PFSK-1	brain:	n/a	n/a
47	MAX	chr16:70437975-70438748	NB4	blood:	n/a	n/a
48	RAD21	chr16:70438145-70438637	IMR90	lung:	n/a	n/a
49	SP1	chr16:70438079-70438660	GM12878	blood:	n/a	n/a
50	MAFK	chr16:70438119-70438764	K562	blood:	n/a	chr16:70438578-70438593

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70435074..70439461-chr16:70440189..70443531,4	K562	blood:
2	chr16:70437013..70440067-chr16:70462393..70466171,3	K562	blood:
3	chr16:70438164..70441046-chr16:70466223..70468146,2	K562	blood:

No data

Variant related genes	Relation type
ST3GAL2	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12102388	0.87[AMR][1000 genomes]
rs13330945	0.87[AMR][1000 genomes]
rs13334712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337437	1.00[EUR][1000 genomes]
rs13337689	0.87[AMR][1000 genomes]
rs16970240	1.00[MEX][hapmap]
rs16970253	1.00[MEX][hapmap]
rs16970260	1.00[MEX][hapmap]
rs17881316	1.00[MEX][hapmap]
rs1979594	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2168606	0.82[YRI][hapmap]
rs28613466	0.87[AMR][1000 genomes]
rs3852695	0.84[YRI][hapmap]
rs57301833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60575688	0.87[AMR][1000 genomes]
rs60828997	1.00[EUR][1000 genomes]
rs6499320	0.82[YRI][hapmap]
rs7193228	1.00[MEX][hapmap]
rs7193598	0.93[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs7200034	0.86[ASW][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7200891	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202133	0.87[AMR][1000 genomes]
rs8045340	1.00[AMR][1000 genomes]
rs8057327	1.00[MEX][hapmap]
rs8057732	1.00[MEX][hapmap]
rs8057766	0.86[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs8058754	1.00[MEX][hapmap]
rs8062178	0.85[YRI][hapmap]
rs8063990	0.82[YRI][hapmap]
rs891138	0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921696	0.93[ASW][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs9925510	0.93[ASW][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs9927480	1.00[EUR][1000 genomes]
rs9928617	1.00[MEX][hapmap]
rs9929354	1.00[MEX][hapmap]
rs9931779	1.00[EUR][1000 genomes]
rs9934707	0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9940353	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 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	chr16:70415800-70442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:70422800-70441400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:70422800-70441600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:70428400-70442200	Weak transcription	Fetal Brain Male	brain
5	chr16:70428800-70450400	Weak transcription	Fetal Kidney	kidney
6	chr16:70431200-70441800	Weak transcription	Fetal Heart	heart
7	chr16:70431800-70438800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:70432400-70444800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:70432800-70454800	Weak transcription	Pancreas	Pancrea
10	chr16:70432800-70457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:70433200-70441400	Weak transcription	Brain Anterior Caudate	brain
12	chr16:70433200-70441400	Weak transcription	Ovary	ovary
13	chr16:70433200-70441800	Weak transcription	Brain Angular Gyrus	brain
14	chr16:70433200-70461600	Weak transcription	Aorta	Aorta
15	chr16:70433400-70441200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:70433400-70461600	Weak transcription	Brain Substantia Nigra	brain
17	chr16:70433600-70461600	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:70433800-70441600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:70434200-70441600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:70434400-70441400	Weak transcription	Esophagus	oesophagus
21	chr16:70434400-70441600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:70434400-70448000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:70434600-70441400	Weak transcription	Gastric	stomach
24	chr16:70434600-70441600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr16:70434600-70441600	Weak transcription	Brain Hippocampus Middle	brain
26	chr16:70434600-70444800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:70434800-70441800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr16:70434800-70441800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr16:70435000-70441400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:70435000-70441600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:70435000-70441600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:70435000-70451400	Weak transcription	Fetal Brain Female	brain
33	chr16:70435200-70441400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:70435200-70441400	Weak transcription	Brain Germinal Matrix	brain
35	chr16:70435200-70441800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:70435400-70441400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:70435400-70441400	Weak transcription	Right Ventricle	heart
38	chr16:70435600-70439000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr16:70435600-70440600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:70435600-70441400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr16:70435600-70441400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:70436200-70439600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:70436400-70439200	Enhancers	Hela-S3	cervix
44	chr16:70436400-70439800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:70436400-70440200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr16:70436600-70440400	Enhancers	Placenta	Placenta
47	chr16:70436800-70438600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr16:70436800-70439200	Enhancers	HMEC	breast
49	chr16:70436800-70439600	Enhancers	Primary hematopoietic stem cells	blood
50	chr16:70437000-70438800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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