Variant report

Variant	rs7081652
Chromosome Location	chr10:99532108-99532109
allele	C/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	JUND	chr10:99532014-99532132	K562	blood:	n/a	chr10:99532082-99532091
2	TEAD4	chr10:99531852-99532316	K562	blood:	n/a	n/a
3	CBX3	chr10:99531895-99532196	K562	blood:	n/a	n/a
4	GATA1	chr10:99531879-99532245	K562	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
5	RCOR1	chr10:99531850-99532259	K562	blood:	n/a	n/a
6	POLR2A	chr10:99531967-99532133	K562	blood:	n/a	n/a
7	TRIM28	chr10:99531926-99532214	K562	blood:	n/a	chr10:99532147-99532155
8	POLR2A	chr10:99531965-99532222	K562	blood:	n/a	n/a
9	ZMIZ1	chr10:99531975-99532210	K562	blood:	n/a	n/a
10	GATA2	chr10:99531844-99532247	K562	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
11	TEAD4	chr10:99531898-99532230	K562	blood:	n/a	n/a
12	TAL1	chr10:99531852-99532271	K562	blood:	n/a	chr10:99532034-99532052
13	REST	chr10:99531918-99532138	K562	blood:	n/a	n/a
14	MAZ	chr10:99531841-99532268	K562	blood:	n/a	n/a
15	RCOR1	chr10:99531910-99532240	K562	blood:	n/a	n/a
16	HDAC2	chr10:99531872-99532238	K562	blood:	n/a	chr10:99532087-99532096 chr10:99532033-99532042
17	CCNT2	chr10:99531813-99532243	K562	blood:	n/a	chr10:99532032-99532052
18	SPI1	chr10:99531950-99532184	K562	blood:	n/a	n/a
19	BHLHE40	chr10:99532016-99532206	K562	blood:	n/a	n/a
20	MYC	chr10:99531998-99532145	K562	blood:	n/a	n/a
21	EP300	chr10:99531946-99532198	K562	blood:	n/a	n/a
22	CEBPD	chr10:99531801-99532350	K562	blood:	n/a	n/a
23	TBL1XR1	chr10:99531983-99532189	K562	blood:	n/a	n/a
24	GATA2	chr10:99531905-99532265	K562	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
25	STAT5A	chr10:99531842-99532217	K562	blood:	n/a	chr10:99531867-99531879
26	UBTF	chr10:99531903-99532219	K562	blood:	n/a	n/a
27	GATA2	chr10:99531894-99532172	K562	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
28	GATA1	chr10:99531699-99532503	PBDE	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
29	IRF1	chr10:99531999-99532226	K562	blood:	n/a	chr10:99532128-99532137
30	ZBTB7A	chr10:99531245-99532282	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr10:99532061-99532196	K562	blood:	n/a	n/a
32	GATA1	chr10:99531814-99532262	K562	blood:	n/a	chr10:99532088-99532097 chr10:99532081-99532102 chr10:99532034-99532041 chr10:99532027-99532048 chr10:99532035-99532052 chr10:99532033-99532043 chr10:99532087-99532097 chr10:99532034-99532043
33	PML	chr10:99531892-99532255	K562	blood:	n/a	chr10:99532147-99532155
34	MYC	chr10:99531898-99532247	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99532050..99535019-chr10:99556525..99559410,2	K562	blood:

Variant related genes	Relation type
SFRP5	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10748709	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786373	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10882993	0.83[ASN][1000 genomes]
rs10882997	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882998	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11189361	0.87[ASN][1000 genomes]
rs11189362	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189367	0.83[ASN][1000 genomes]
rs11189376	0.81[EUR][1000 genomes]
rs11189377	0.80[ASN][1000 genomes]
rs11815012	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12268814	0.86[EUR][1000 genomes]
rs12569757	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12783992	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1556971	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981237	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2010732	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2027376	0.88[ASN][1000 genomes]
rs2039826	0.82[ASN][1000 genomes]
rs2095957	0.82[EUR][1000 genomes]
rs34283185	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3750612	0.88[ASN][1000 genomes]
rs3814559	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3814560	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4244329	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4244330	0.82[ASN][1000 genomes]
rs4917786	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4919139	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072751	0.97[ASN][1000 genomes]
rs7080894	0.89[ASN][1000 genomes]
rs7080953	0.90[ASN][1000 genomes]
rs7094519	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7478323	0.82[ASN][1000 genomes]
rs7910589	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7916164	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7916593	0.88[ASN][1000 genomes]
rs7922907	0.86[ASN][1000 genomes]
rs883324	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv467441	chr10:99472710-99541104	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv552026	chr10:99472710-99541104	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3340017	chr10:99530387-99533135	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3390726	chr10:99530862-99532860	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99530200-99532200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
2	chr10:99530400-99532200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr10:99530600-99532200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr10:99530600-99532200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr10:99530800-99532200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr10:99530800-99532200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr10:99530800-99532200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:99530800-99532200	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr10:99530800-99532400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr10:99530800-99532400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr10:99531000-99532200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:99531400-99532200	Active TSS	Brain Anterior Caudate	brain
13	chr10:99531400-99532200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr10:99531600-99532200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:99531600-99532200	Bivalent Enhancer	Fetal Brain Male	brain
16	chr10:99531600-99532400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr10:99531800-99532200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:99531800-99532200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:99531800-99532400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:99531800-99532600	Flanking Active TSS	Pancreas	Pancrea
21	chr10:99531800-99532800	Enhancers	Gastric	stomach
22	chr10:99531800-99533400	Bivalent Enhancer	Fetal Thymus	thymus
23	chr10:99532000-99532200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr10:99532000-99532200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:99532000-99532200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr10:99532000-99532200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr10:99532000-99532200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
28	chr10:99532000-99532200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:99532000-99532200	Bivalent Enhancer	Brain Hippocampus Middle	brain
30	chr10:99532000-99532400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr10:99532000-99532400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
32	chr10:99532000-99532400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr10:99532000-99532400	Bivalent Enhancer	Right Ventricle	heart
34	chr10:99532000-99532400	Bivalent Enhancer	HepG2	liver
35	chr10:99532000-99532400	Flanking Active TSS	K562	blood
36	chr10:99532000-99532800	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr10:99532000-99533600	Bivalent Enhancer	Fetal Heart	heart
38	chr10:99532000-99533600	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr10:99532000-99540200	Weak transcription	Right Atrium	heart

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