Variant report

Variant	rs11196730
Chromosome Location	chr10:116168638-116168639
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	EBF1	chr10:116168052-116168962	GM12878	blood:	n/a	chr10:116168281-116168294 chr10:116168283-116168292 chr10:116168283-116168293 chr10:116168282-116168293
2	EP300	chr10:116167262-116169152	ECC-1	luminal epithelium:	n/a	chr10:116168256-116168270 chr10:116168151-116168161 chr10:116167884-116167900
3	MAX	chr10:116167438-116169270	ECC-1	luminal epithelium:	n/a	chr10:116168349-116168358 chr10:116168347-116168357 chr10:116168330-116168339
4	TCF12	chr10:116167700-116169141	ECC-1	luminal epithelium:	n/a	chr10:116168120-116168127 chr10:116168558-116168566
5	TCF12	chr10:116167718-116169187	ECC-1	luminal epithelium:	n/a	chr10:116168120-116168127 chr10:116168558-116168566
6	MAX	chr10:116167734-116169045	ECC-1	luminal epithelium:	n/a	chr10:116168349-116168358 chr10:116168347-116168357 chr10:116168330-116168339

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116162254..116164533-chr10:116167169..116169153,2	MCF-7	breast:
2	chr10:116154812..116157671-chr10:116168139..116169677,2	MCF-7	breast:

Variant related genes	Relation type
AFAP1L2	TF binding region
ENSG00000169129	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10736236	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10749162	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10749163	0.84[AMR][1000 genomes]
rs10885560	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10885561	0.94[ASN][1000 genomes]
rs11196723	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs12248736	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12255595	0.95[MEX][hapmap];0.82[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2065022	0.85[YRI][hapmap];0.82[AMR][1000 genomes]
rs4545457	0.82[AMR][1000 genomes]
rs7075375	0.95[MEX][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs7088296	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7899139	0.85[CEU][hapmap]
rs7916887	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active 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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116165000-116172000	Weak transcription	Esophagus	oesophagus
2	chr10:116165000-116172600	Weak transcription	Pancreas	Pancrea
3	chr10:116165400-116172200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:116166000-116168800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:116167600-116169200	Enhancers	A549	lung
6	chr10:116167600-116169400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:116167600-116169600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:116167600-116169600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:116167600-116169800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:116167600-116170000	Enhancers	Spleen	Spleen
11	chr10:116167800-116169400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr10:116167800-116169400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:116167800-116170200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:116168000-116169000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr10:116168000-116169000	Enhancers	Fetal Thymus	thymus
16	chr10:116168000-116169600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr10:116168000-116169800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr10:116168200-116168800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:116168200-116169200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:116168200-116169800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr10:116168200-116169800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr10:116168200-116169800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr10:116168400-116169200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:116168400-116169200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:116168400-116169600	Enhancers	K562	blood
26	chr10:116168400-116169800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:116168400-116172200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:116168600-116168800	Flanking Active TSS	NHEK	skin
29	chr10:116168600-116168800	Enhancers	NHLF	lung
30	chr10:116168600-116169000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr10:116168600-116169200	Enhancers	NH-A	brain
32	chr10:116168600-116169200	Enhancers	NHDF-Ad	bronchial
33	chr10:116168600-116169400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr10:116168600-116169400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:116168600-116169600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr10:116168600-116169800	Enhancers	Fetal Stomach	stomach
37	chr10:116168600-116170000	Enhancers	Fetal Muscle Trunk	muscle
38	chr10:116168600-116172400	Weak transcription	Adipose Nuclei	Adipose

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