Variant report

Variant	rs7903148
Chromosome Location	chr10:45403471-45403472
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	REST	chr10:45403471-45403825	PFSK-1	brain:	n/a	chr10:45403661-45403679
2	KAP1	chr10:45403376-45404033	HEK293	kidney:	n/a	n/a
3	TCF12	chr10:45403412-45403984	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr10:45403451-45403859	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:45401587..45403643-chr10:45414923..45417253,2	MCF-7	breast:
2	chr10:45402937..45405855-chr10:45407880..45411438,3	K562	blood:
3	chr10:45359043..45361433-chr10:45402629..45404674,2	MCF-7	breast:

Variant related genes	Relation type
TMEM72	TF binding region
ENSG00000234504	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12772980	0.85[EUR][1000 genomes]
rs1325161	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1332624	1.00[CEU][hapmap];0.87[GIH][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1332626	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17415835	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17416363	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17507375	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17507956	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1977584	0.81[EUR][1000 genomes]
rs34346133	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58414517	0.91[EUR][1000 genomes]
rs61852546	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61853972	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61853973	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61853975	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61853976	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7074794	0.91[CEU][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73277463	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45398600-45406800	Weak transcription	Right Ventricle	heart
2	chr10:45399200-45406200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:45399200-45406400	Weak transcription	Right Atrium	heart
4	chr10:45399400-45403800	Weak transcription	Pancreas	Pancrea
5	chr10:45400200-45405400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
7	chr10:45401600-45410200	Enhancers	Fetal Muscle Leg	muscle
8	chr10:45402000-45405600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:45402000-45407800	Weak transcription	Primary T cells from cord blood	blood
10	chr10:45402800-45404000	Enhancers	Fetal Stomach	stomach
11	chr10:45403000-45404600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:45403000-45405000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:45403200-45403600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr10:45403200-45403800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:45403200-45403800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr10:45403200-45404000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:45403200-45404000	Enhancers	HSMMtube	muscle
18	chr10:45403200-45404400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr10:45403200-45404400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:45403200-45404600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:45403200-45405000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:45403200-45405000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr10:45403200-45409000	Enhancers	Fetal Thymus	thymus
24	chr10:45403400-45403600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:45403400-45403600	Flanking Active TSS	Fetal Kidney	kidney
26	chr10:45403400-45403800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr10:45403400-45403800	Enhancers	Adipose Nuclei	Adipose
28	chr10:45403400-45403800	Bivalent Enhancer	HepG2	liver
29	chr10:45403400-45404000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:45403400-45404000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:45403400-45404000	Enhancers	Fetal Lung	lung
32	chr10:45403400-45404000	Enhancers	Placenta	Placenta
33	chr10:45403400-45404200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr10:45403400-45404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr10:45403400-45404200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:45403400-45404200	Enhancers	Fetal Heart	heart
37	chr10:45403400-45404600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr10:45403400-45404600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:45403400-45404800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr10:45403400-45405000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr10:45403400-45405000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr10:45403400-45405000	Enhancers	Psoas Muscle	Psoas
43	chr10:45403400-45405400	Enhancers	Fetal Muscle Trunk	muscle

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