Variant report

Variant	rs7914175
Chromosome Location	chr10:45456863-45456864
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	HNF4A	chr10:45456638-45456974	HepG2	liver:	n/a	chr10:45456839-45456854
2	POLR2A	chr10:45453206-45457051	GM12878	blood:	n/a	n/a
3	CHD2	chr10:45456424-45457032	GM12878	blood:	n/a	n/a
4	RUNX3	chr10:45456671-45457064	GM12878	blood:	n/a	n/a
5	RXRA	chr10:45456628-45456968	HepG2	liver:	n/a	chr10:45456762-45456782 chr10:45456909-45456923 chr10:45456839-45456853
6	PAX5	chr10:45456629-45456980	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:45456567-45457158	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:45453599-45456957	HepG2	liver:	n/a	n/a
9	POLR2A	chr10:45456783-45456950	GM12878	blood:	n/a	n/a
10	EP300	chr10:45456215-45457052	GM12878	blood:	n/a	n/a
11	WRNIP1	chr10:45456287-45457233	GM12878	blood:	n/a	n/a
12	NRF1	chr10:45456683-45457152	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:45456801-45456911	HepG2	liver:	n/a	n/a
14	TBL1XR1	chr10:45456363-45456932	GM12878	blood:	n/a	n/a
15	PAX5	chr10:45456670-45456960	GM12878	blood:	n/a	n/a
16	PAX5	chr10:45456633-45456946	GM12891	blood:	n/a	n/a
17	RCOR1	chr10:45456295-45456890	GM12878	blood:	n/a	n/a
18	CUX1	chr10:45456813-45457000	GM12878	blood:	n/a	n/a
19	EBF1	chr10:45456739-45457140	GM12878	blood:	n/a	chr10:45456922-45456933

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45454284..45457115-chr10:45494603..45497911,3	K562	blood:
2	chr10:45454284..45457608-chr10:45494603..45497438,3	K562	blood:

Variant related genes	Relation type
TMEM72-AS1	TF binding region
ENSG00000273363	TF binding region
ENSG00000165512	Chromatin interaction
ENSG00000165511	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10793572	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12263146	0.83[ASN][1000 genomes]
rs1888983	0.92[ASN][1000 genomes]
rs3814566	0.92[ASN][1000 genomes]
rs4948938	0.81[ASN][1000 genomes]
rs59626742	0.85[ASN][1000 genomes]
rs884879	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45454200-45457200	Active TSS	HSMMtube	muscle
2	chr10:45454200-45457400	Active TSS	Left Ventricle	heart
3	chr10:45454400-45457400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:45454600-45457000	Active TSS	Brain Angular Gyrus	brain
5	chr10:45455200-45457000	Flanking Active TSS	Liver	Liver
6	chr10:45455200-45457200	Flanking Active TSS	Fetal Muscle Leg	muscle
7	chr10:45455200-45458200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr10:45455400-45457000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr10:45455400-45457000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr10:45455400-45458200	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr10:45455400-45462800	Flanking Active TSS	GM12878-XiMat	blood
12	chr10:45455600-45457000	Enhancers	Primary B cells from peripheral blood	blood
13	chr10:45455600-45457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:45455600-45457400	Weak transcription	NHEK	skin
15	chr10:45455600-45457600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:45455600-45457600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr10:45455600-45457800	Enhancers	Gastric	stomach
18	chr10:45455600-45459200	Weak transcription	Hela-S3	cervix
19	chr10:45455600-45459400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:45455600-45462600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:45455600-45465200	Enhancers	Fetal Thymus	thymus
22	chr10:45455600-45465200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr10:45455800-45457000	Enhancers	Primary B cells from cord blood	blood
24	chr10:45455800-45457000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr10:45455800-45457000	Flanking Active TSS	Fetal Heart	heart
26	chr10:45455800-45457200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:45455800-45458800	Weak transcription	Fetal Brain Male	brain
28	chr10:45455800-45459400	Weak transcription	HMEC	breast
29	chr10:45455800-45459600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:45455800-45460600	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr10:45455800-45461400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:45455800-45463200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:45455800-45464000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:45455800-45465600	Weak transcription	Ovary	ovary
35	chr10:45456000-45457000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr10:45456000-45457200	Active TSS	Placenta	Placenta
37	chr10:45456000-45458200	Weak transcription	Thymus	Thymus
38	chr10:45456000-45458600	Weak transcription	Dnd41	blood
39	chr10:45456000-45458600	Weak transcription	NH-A	brain
40	chr10:45456000-45459000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:45456000-45459200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr10:45456000-45459200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:45456000-45459600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:45456000-45459800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:45456000-45460800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr10:45456000-45463000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr10:45456000-45463400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:45456200-45457000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
49	chr10:45456200-45457000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr10:45456200-45457600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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