Variant report

Variant	rs7916796
Chromosome Location	chr10:116168945-116168946
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	CUX1	chr10:116168943-116169085	K562	blood:	n/a	n/a
5	JUND	chr10:116168645-116169048	K562	blood:	n/a	n/a
6	RCOR1	chr10:116168796-116169140	K562	blood:	n/a	n/a
7	ELF1	chr10:116168859-116169066	K562	blood:	n/a	chr10:116169005-116169016
8	MAX	chr10:116168848-116169048	K562	blood:	n/a	n/a
9	GATA2	chr10:116168870-116169143	K562	blood:	n/a	n/a
10	GATA2	chr10:116168817-116169172	SH-SY5Y	brain:	n/a	n/a
11	MAZ	chr10:116168820-116169174	K562	blood:	n/a	n/a
12	UBTF	chr10:116168926-116169161	K562	blood:	n/a	n/a
13	TCF12	chr10:116167700-116169141	ECC-1	luminal epithelium:	n/a	chr10:116168120-116168127 chr10:116168558-116168566
14	FOS	chr10:116168783-116168983	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF12	chr10:116167718-116169187	ECC-1	luminal epithelium:	n/a	chr10:116168120-116168127 chr10:116168558-116168566
16	EP300	chr10:116168776-116169160	K562	blood:	n/a	n/a
17	GATA3	chr10:116168853-116169076	T-47D	breast:	n/a	n/a
18	MYC	chr10:116168885-116169240	K562	blood:	n/a	n/a
19	ZNF143	chr10:116168932-116169078	K562	blood:	n/a	n/a
20	MAX	chr10:116167734-116169045	ECC-1	luminal epithelium:	n/a	chr10:116168349-116168358 chr10:116168347-116168357 chr10:116168330-116168339
21	TBL1XR1	chr10:116168725-116169071	K562	blood:	n/a	n/a
22	TCF7L2	chr10:116168899-116169098	PANC-1	pancreas:	n/a	chr10:116168980-116168989

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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11196728	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196738	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12354693	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12354943	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12355335	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12356147	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12357098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12359269	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17406965	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41293058	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs475150	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs605654	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61868314	0.94[EUR][1000 genomes]
rs61868324	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs622320	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs622646	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6585277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7069926	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7900888	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7910088	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916374	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs941855	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9665297	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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:39 , 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	chr10:116167600-116169200	Enhancers	A549	lung
5	chr10:116167600-116169400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:116167600-116169600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:116167600-116169600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:116167600-116169800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:116167600-116170000	Enhancers	Spleen	Spleen
10	chr10:116167800-116169400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr10:116167800-116169400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:116167800-116170200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:116168000-116169000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr10:116168000-116169000	Enhancers	Fetal Thymus	thymus
15	chr10:116168000-116169600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr10:116168000-116169800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr10:116168200-116169200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:116168200-116169800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr10:116168200-116169800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr10:116168200-116169800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr10:116168400-116169200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:116168400-116169200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:116168400-116169600	Enhancers	K562	blood
24	chr10:116168400-116169800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:116168400-116172200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr10:116168600-116169000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr10:116168600-116169200	Enhancers	NH-A	brain
28	chr10:116168600-116169200	Enhancers	NHDF-Ad	bronchial
29	chr10:116168600-116169400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr10:116168600-116169400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:116168600-116169600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr10:116168600-116169800	Enhancers	Fetal Stomach	stomach
33	chr10:116168600-116170000	Enhancers	Fetal Muscle Trunk	muscle
34	chr10:116168600-116172400	Weak transcription	Adipose Nuclei	Adipose
35	chr10:116168800-116169200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:116168800-116169200	Enhancers	NHEK	skin
37	chr10:116168800-116169600	Enhancers	Fetal Muscle Leg	muscle
38	chr10:116168800-116170200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:116168800-116172400	Weak transcription	NHLF	lung

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