Variant report

Variant	rs7097247
Chromosome Location	chr10:99531949-99531950
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	TEAD4	chr10:99531852-99532316	K562	blood:	n/a	n/a
2	CBX3	chr10:99531895-99532196	K562	blood:	n/a	n/a
3	TBP	chr10:99531884-99532061	H1-hESC	embryonic stem cell:	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	HMGN3	chr10:99531882-99532046	K562	blood:	n/a	n/a
7	TRIM28	chr10:99531926-99532214	K562	blood:	n/a	chr10:99532147-99532155
8	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
9	TEAD4	chr10:99531898-99532230	K562	blood:	n/a	n/a
10	TAL1	chr10:99531852-99532271	K562	blood:	n/a	chr10:99532034-99532052
11	REST	chr10:99531918-99532138	K562	blood:	n/a	n/a
12	ZNF143	chr10:99531837-99532034	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAZ	chr10:99531841-99532268	K562	blood:	n/a	n/a
14	RCOR1	chr10:99531910-99532240	K562	blood:	n/a	n/a
15	HDAC2	chr10:99531872-99532238	K562	blood:	n/a	chr10:99532087-99532096 chr10:99532033-99532042
16	CCNT2	chr10:99531813-99532243	K562	blood:	n/a	chr10:99532032-99532052
17	EP300	chr10:99531946-99532198	K562	blood:	n/a	n/a
18	ZBTB7A	chr10:99531270-99532103	ECC-1	luminal epithelium:	n/a	n/a
19	ZBTB7A	chr10:99531779-99531993	K562	blood:	n/a	n/a
20	CEBPD	chr10:99531801-99532350	K562	blood:	n/a	n/a
21	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
22	STAT5A	chr10:99531842-99532217	K562	blood:	n/a	chr10:99531867-99531879
23	UBTF	chr10:99531903-99532219	K562	blood:	n/a	n/a
24	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
25	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
26	ZBTB7A	chr10:99531245-99532282	ECC-1	luminal epithelium:	n/a	n/a
27	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
28	PML	chr10:99531892-99532255	K562	blood:	n/a	chr10:99532147-99532155
29	MAX	chr10:99530811-99532072	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr10:99531898-99532247	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:99531934-99531984	SK-N-SH_RA	brain:	n/a
2	chr10:99531929-99531979	HepG2	liver:	n/a
3	chr10:99531929-99531979	NH-A	brain:	n/a
4	chr10:99531929-99531979	GM12892	blood:	n/a
5	chr10:99531929-99531979	HL-60	blood:	n/a
6	chr10:99531934-99531984	HCPEpiC	choroid plexus:	n/a
7	chr10:99531934-99531984	NB4	blood:	n/a
8	chr10:99531934-99531984	HPAEpiC	pulmonary alveolar:	n/a
9	chr10:99531929-99531979	HEK293	kidney:	embryo
10	chr10:99531934-99531984	ProgFib	skin:	n/a
11	chr10:99531929-99531979	GM12878	blood:	n/a
12	chr10:99531934-99531984	MCF-7	breast:	n/a
13	chr10:99531929-99531979	LNCaP	prostate:	n/a
14	chr10:99531929-99531979	MCF10A-Er-Src	breast:	n/a
15	chr10:99531929-99531979	NB4	blood:	n/a
16	chr10:99531934-99531984	H1-hESC	embryonic stem cell:	embryo
17	chr10:99531929-99531979	AG04449	skin:	fetal
18	chr10:99531934-99531984	NH-A	brain:	n/a
19	chr10:99531934-99531984	BE2_C	brain:	n/a
20	chr10:99531934-99531984	HRCEpiC	kidney:	n/a
21	chr10:99531934-99531984	PANC-1	pancreas:	n/a
22	chr10:99531929-99531979	HMEC	breast:	n/a
23	chr10:99531929-99531979	GM19239	blood:	n/a
24	chr10:99531934-99531984	K562	blood:	n/a
25	chr10:99531934-99531984	AG04449	skin:	fetal
26	chr10:99531929-99531979	AG10803	skin:	n/a
27	chr10:99531934-99531984	NT2-D1	testis:	n/a
28	chr10:99531934-99531984	ECC-1	luminal epithelium:	n/a
29	chr10:99531929-99531979	HCF	heart:	n/a
30	chr10:99531934-99531984	CMK	blood:	n/a
31	chr10:99531929-99531979	PrEC	prostate:	n/a
32	chr10:99531934-99531984	A549	lung:	n/a
33	chr10:99531934-99531984	SKMC	muscle:	n/a
34	chr10:99531929-99531979	HIPEpiC	eye:	n/a
35	chr10:99531929-99531979	HRPEpiC	eye:	n/a
36	chr10:99531934-99531984	HEK293	kidney:	embryo
37	chr10:99531934-99531984	HIPEpiC	eye:	n/a
38	chr10:99531934-99531984	SK-N-MC	brain:	n/a
39	chr10:99531929-99531979	MCF-7	breast:	n/a
40	chr10:99531929-99531979	Caco-2	colon:	n/a
41	chr10:99531934-99531984	IMR90	lung:	fetal
42	chr10:99531929-99531979	HAEpiC	amniotic membrane:	n/a
43	chr10:99531934-99531984	HAEpiC	amniotic membrane:	n/a
44	chr10:99531929-99531979	Hela-S3	cervix:	n/a
45	chr10:99531934-99531984	GM06990	blood:	n/a
46	chr10:99531929-99531979	HEEpiC	esophagus:	n/a
47	chr10:99531929-99531979	Jurkat	blood:	n/a
48	chr10:99531929-99531979	NHDF-neo	bronchial:	n/a
49	chr10:99531934-99531984	Jurkat	blood:	n/a
50	chr10:99531929-99531979	K562	blood:	n/a

Variant related genes	Relation type
SFRP5	TF binding region
SFRP5	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11189364	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11189365	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11189370	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11189371	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249138	0.85[ASN][1000 genomes]
rs12264638	0.85[ASN][1000 genomes]
rs12266257	0.85[ASN][1000 genomes]
rs12269197	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377035	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544178	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108378	0.92[ASN][1000 genomes]
rs1934562	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2185365	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28549815	0.85[ASN][1000 genomes]
rs3750613	0.96[ASN][1000 genomes]
rs4378321	0.81[ASN][1000 genomes]
rs58554424	0.92[ASN][1000 genomes]
rs6584151	0.81[ASN][1000 genomes]
rs6584152	0.85[ASN][1000 genomes]
rs7095551	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324634	0.81[ASN][1000 genomes]
rs73324671	0.88[ASN][1000 genomes]
rs73324700	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73326541	0.92[ASN][1000 genomes]
rs946783	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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:62 , 50 per page) page: 1 2

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	chr10:99530600-99532000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr10:99530600-99532000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr10:99530600-99532200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr10:99530600-99532200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr10:99530800-99532000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr10:99530800-99532000	Active TSS	Brain Angular Gyrus	brain
9	chr10:99530800-99532000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
10	chr10:99530800-99532000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr10:99530800-99532000	Bivalent/Poised TSS	Psoas Muscle	Psoas
12	chr10:99530800-99532000	Bivalent Enhancer	Spleen	Spleen
13	chr10:99530800-99532200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr10:99530800-99532200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr10:99530800-99532200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:99530800-99532200	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr10:99530800-99532400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr10:99530800-99532400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr10:99531000-99532000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:99531000-99532000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr10:99531000-99532000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
22	chr10:99531000-99532000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:99531000-99532000	Bivalent Enhancer	Lung	lung
24	chr10:99531000-99532000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
25	chr10:99531000-99532000	Bivalent/Poised TSS	A549	lung
26	chr10:99531000-99532000	Bivalent/Poised TSS	HepG2	liver
27	chr10:99531000-99532200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:99531400-99532000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr10:99531400-99532000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr10:99531400-99532000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr10:99531400-99532000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr10:99531400-99532000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:99531400-99532000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:99531400-99532000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
35	chr10:99531400-99532000	Active TSS	Right Atrium	heart
36	chr10:99531400-99532000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr10:99531400-99532000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
38	chr10:99531400-99532000	Active TSS	K562	blood
39	chr10:99531400-99532200	Active TSS	Brain Anterior Caudate	brain
40	chr10:99531400-99532200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr10:99531600-99532000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:99531600-99532000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
43	chr10:99531600-99532000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr10:99531600-99532000	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr10:99531600-99532000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr10:99531600-99532000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
47	chr10:99531600-99532200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:99531600-99532200	Bivalent Enhancer	Fetal Brain Male	brain
49	chr10:99531600-99532400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr10:99531800-99532000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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