Variant report

Variant	rs7174353
Chromosome Location	chr15:72099561-72099562
allele	A/C
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	ZNF143	chr15:72099456-72100513	H1-hESC	embryonic stem cell:	n/a	chr15:72099559-72099577 chr15:72099677-72099687
2	BACH1	chr15:72098689-72099852	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr15:72099537-72099808	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:72099489-72099739	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr15:72099519-72099635	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr15:72099434-72100412	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr15:72099485-72100018	H1-hESC	embryonic stem cell:	n/a	chr15:72099614-72099625 chr15:72099612-72099625
8	TAF1	chr15:72099546-72099903	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr15:72098714-72099676	H1-hESC	embryonic stem cell:	n/a	chr15:72098912-72098932 chr15:72098917-72098932 chr15:72098857-72098873 chr15:72098915-72098929 chr15:72098921-72098932 chr15:72098914-72098930
10	POLR2A	chr15:72099437-72100245	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72095402..72097708-chr15:72097755..72100613,2	MCF-7	breast:
2	chr15:72097461..72102477-chr15:72104726..72109263,4	MCF-7	breast:
3	chr15:72093317..72095057-chr15:72097968..72100782,2	MCF-7	breast:

Variant related genes	Relation type
NR2E3	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11072329	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11072331	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12101574	0.83[ASN][1000 genomes]
rs2723340	0.92[ASN][1000 genomes]
rs4776576	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6494968	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6494969	0.88[ASN][1000 genomes]
rs7164847	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7495064	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][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	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72093600-72100200	Weak transcription	Fetal Kidney	kidney
2	chr15:72096000-72100600	Enhancers	Fetal Muscle Trunk	muscle
3	chr15:72096000-72105600	Enhancers	Fetal Muscle Leg	muscle
4	chr15:72096200-72100400	Enhancers	Fetal Heart	heart
5	chr15:72096200-72103400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:72097200-72100600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:72098400-72100600	Enhancers	Fetal Lung	lung
8	chr15:72098400-72100600	Enhancers	A549	lung
9	chr15:72098400-72100800	Enhancers	Placenta	Placenta
10	chr15:72098600-72100200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:72098600-72100400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:72098600-72100400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr15:72098600-72100400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:72098600-72100400	Enhancers	Fetal Stomach	stomach
15	chr15:72098600-72100400	Enhancers	Left Ventricle	heart
16	chr15:72098600-72100400	Enhancers	HMEC	breast
17	chr15:72098600-72100400	Enhancers	HUVEC	blood vessel
18	chr15:72098600-72100600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:72098600-72100600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:72098600-72100600	Enhancers	NH-A	brain
21	chr15:72098600-72100600	Enhancers	NHLF	lung
22	chr15:72098600-72100600	Enhancers	Osteobl	bone
23	chr15:72098600-72100800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:72098600-72100800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:72098600-72101400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr15:72098600-72104000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:72098800-72099800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:72098800-72100200	Enhancers	Right Ventricle	heart
29	chr15:72098800-72100400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:72098800-72100400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:72098800-72100600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:72098800-72100800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:72098800-72101000	Enhancers	HSMM	muscle
34	chr15:72098800-72101200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:72098800-72101400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:72099000-72099600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:72099000-72099800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr15:72099000-72100000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr15:72099000-72100200	Weak transcription	NHDF-Ad	bronchial
40	chr15:72099000-72100400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr15:72099000-72100800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:72099000-72100800	Enhancers	HSMMtube	muscle
43	chr15:72099000-72101000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:72099000-72101200	Enhancers	Right Atrium	heart
45	chr15:72099200-72099600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr15:72099200-72100000	Enhancers	Brain Germinal Matrix	brain
47	chr15:72099200-72100200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr15:72099200-72100200	Weak transcription	NHEK	skin
49	chr15:72099200-72102600	Weak transcription	Fetal Intestine Large	intestine
50	chr15:72099400-72099600	Flanking Active TSS	H9 Cell Line	embryonic stem cell

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