Variant report

Variant	rs45447693
Chromosome Location	chr10:97033775-97033776
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	FOXA1	chr10:97033168-97033780	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:97033070-97033812	A549	lung:	n/a	n/a
3	FOSL2	chr10:97033070-97033841	A549	lung:	n/a	chr10:97033538-97033548 chr10:97033540-97033547 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033537-97033549 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033538-97033548
4	FOSL2	chr10:97033108-97033846	SK-N-SH	brain:	n/a	chr10:97033538-97033548 chr10:97033540-97033547 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033537-97033549 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033538-97033548
5	SP1	chr10:97033085-97033862	A549	lung:	n/a	n/a
6	JUND	chr10:97033141-97033875	SK-N-SH	brain:	n/a	chr10:97033538-97033548 chr10:97033540-97033547 chr10:97033538-97033548 chr10:97033537-97033548 chr10:97033539-97033547 chr10:97033537-97033549 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033538-97033548
7	JUND	chr10:97033262-97033823	A549	lung:	n/a	chr10:97033538-97033548 chr10:97033540-97033547 chr10:97033538-97033548 chr10:97033537-97033548 chr10:97033539-97033547 chr10:97033537-97033549 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033538-97033548
8	PBX3	chr10:97033155-97033825	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr10:97032988-97034057	A549	lung:	n/a	n/a
10	POLR2A	chr10:97032930-97033859	HepG2	liver:	n/a	n/a
11	FOS	chr10:97033288-97033800	HUVEC	blood vessel:	n/a	chr10:97033538-97033548 chr10:97033540-97033547 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033537-97033549 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033537-97033548 chr10:97033538-97033548
12	ARID3A	chr10:97033087-97033818	HepG2	liver:	n/a	n/a
13	MAX	chr10:97033011-97033791	A549	lung:	n/a	n/a
14	GATA3	chr10:97032987-97033876	MCF-7	breast:	n/a	n/a
15	FOXA1	chr10:97033173-97033788	A549	lung:	n/a	n/a
16	GATA3	chr10:97032980-97033849	MCF-7	breast:	n/a	n/a
17	MAX	chr10:97032944-97034067	A549	lung:	n/a	n/a
18	FOXA2	chr10:97033190-97034265	A549	lung:	n/a	n/a
19	SP1	chr10:97033049-97033812	A549	lung:	n/a	n/a
20	FOXA1	chr10:97033772-97034178	HepG2	liver:	n/a	n/a
21	NR2F2	chr10:97032910-97033846	HepG2	liver:	n/a	n/a
22	POLR2A	chr10:97033188-97033776	SK-N-SH	brain:	n/a	n/a
23	TEAD4	chr10:97032880-97033836	HepG2	liver:	n/a	chr10:97033316-97033325
24	FOXA1	chr10:97033086-97034141	A549	lung:	n/a	n/a
25	JUN	chr10:97033232-97034060	K562	blood:	n/a	chr10:97033538-97033548 chr10:97033540-97033547 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033537-97033549 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033538-97033548
26	FOXA2	chr10:97033223-97034130	A549	lung:	n/a	n/a
27	FOSL2	chr10:97033170-97033805	HepG2	liver:	n/a	chr10:97033538-97033548 chr10:97033540-97033547 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033537-97033549 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033538-97033548
28	GATA2	chr10:97033156-97033911	HUVEC	blood vessel:	n/a	n/a
29	FOXA1	chr10:97033216-97034088	HepG2	liver:	n/a	n/a
30	GATA3	chr10:97033009-97034061	SK-N-SH	brain:	n/a	n/a
31	JUND	chr10:97032807-97033920	SK-N-SH	brain:	n/a	chr10:97033538-97033548 chr10:97033540-97033547 chr10:97033538-97033548 chr10:97033537-97033548 chr10:97033539-97033547 chr10:97033537-97033549 chr10:97033538-97033548 chr10:97033539-97033547 chr10:97033538-97033548
32	FOXA1	chr10:97033073-97034100	HepG2	liver:	n/a	n/a
33	TCF12	chr10:97033017-97034001	SK-N-SH	brain:	n/a	n/a
34	SIN3AK20	chr10:97032945-97033936	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97030116..97038568-chr10:97046190..97052064,12	MCF-7	breast:
2	chr10:97033378..97035939-chr10:97049305..97051881,3	MCF-7	breast:

Variant related genes	Relation type
PDLIM1	TF binding region
ENSG00000107438	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10509685	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12765981	0.92[ASN][1000 genomes]
rs12769370	0.92[ASN][1000 genomes]
rs12783709	0.92[ASN][1000 genomes]
rs17453729	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17453764	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17453855	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17526000	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1854338	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34976996	0.92[ASN][1000 genomes]
rs35777379	0.89[ASN][1000 genomes]
rs35830045	0.84[ASN][1000 genomes]
rs45444597	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45493292	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45498798	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45518536	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45533831	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45554238	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45555036	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45562941	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45569042	0.88[ASN][1000 genomes]
rs45591738	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45605435	0.89[AMR][1000 genomes]
rs7912686	0.84[ASN][1000 genomes]

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	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97016800-97036000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:97021000-97034400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:97021400-97036400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:97024400-97035000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:97024800-97049400	Weak transcription	Fetal Kidney	kidney
6	chr10:97026800-97036000	Weak transcription	Fetal Lung	lung
7	chr10:97027400-97035800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr10:97028600-97036200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr10:97028600-97036200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:97028600-97038200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:97028800-97036000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:97029000-97036000	Weak transcription	Fetal Thymus	thymus
13	chr10:97029000-97039200	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:97030600-97036200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:97030600-97037800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:97030800-97036200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:97031000-97034000	Weak transcription	Spleen	Spleen
18	chr10:97031000-97036000	Weak transcription	Gastric	stomach
19	chr10:97031000-97038200	Weak transcription	Fetal Stomach	stomach
20	chr10:97031600-97036200	Weak transcription	Primary B cells from cord blood	blood
21	chr10:97031600-97046600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr10:97032400-97040800	Enhancers	Stomach Mucosa	stomach
23	chr10:97032600-97034000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:97032600-97034400	Genic enhancers	GM12878-XiMat	blood
25	chr10:97032600-97036400	Enhancers	Liver	Liver
26	chr10:97032600-97041000	Enhancers	Fetal Intestine Large	intestine
27	chr10:97032600-97043600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr10:97032800-97033800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr10:97032800-97034000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:97032800-97034000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:97032800-97034000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:97032800-97034000	Enhancers	Fetal Heart	heart
33	chr10:97032800-97034000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr10:97032800-97034200	Flanking Active TSS	A549	lung
35	chr10:97032800-97034600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:97032800-97035000	Genic enhancers	Fetal Intestine Small	intestine
37	chr10:97032800-97035200	Enhancers	Right Ventricle	heart
38	chr10:97032800-97035400	Enhancers	Lung	lung
39	chr10:97032800-97037600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:97032800-97039200	Enhancers	Duodenum Mucosa	Duodenum
41	chr10:97032800-97042800	Enhancers	Small Intestine	intestine
42	chr10:97033000-97033800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:97033000-97033800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:97033000-97033800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr10:97033000-97033800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr10:97033000-97033800	Flanking Active TSS	Osteobl	bone
47	chr10:97033000-97034000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr10:97033000-97034000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr10:97033000-97034000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr10:97033000-97034000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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