Variant report

Variant	rs2274888
Chromosome Location	chr10:45474340-45474341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:378)
CpG islands
(count:122)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr10:45473877-45474735	HCT-116	colon:	n/a	chr10:45474367-45474377
2	POLR2A	chr10:45473685-45474581	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr10:45473991-45474489	MCF-7	breast:	n/a	n/a
4	CTCF	chr10:45474320-45474470	HAc	cerebellar:	n/a	n/a
5	SRF	chr10:45474078-45474508	HepG2	liver:	n/a	chr10:45474367-45474377
6	POLR2A	chr10:45474072-45474354	A549	lung:	n/a	n/a
7	SRF	chr10:45474082-45474645	ECC-1	luminal epithelium:	n/a	chr10:45474367-45474377
8	CTCF	chr10:45474340-45474490	WERI-Rb-1	eye:	n/a	n/a
9	USF1	chr10:45474076-45474559	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:45470953-45474705	HepG2	liver:	n/a	n/a
11	TCF12	chr10:45474003-45474748	SK-N-SH	brain:	n/a	chr10:45474045-45474055
12	MAFK	chr10:45474141-45474449	HepG2	liver:	n/a	n/a
13	MBD4	chr10:45473974-45474697	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:45473983-45474432	HEK293	kidney:	n/a	n/a
15	HEY1	chr10:45470947-45474495	HepG2	liver:	n/a	n/a
16	CTCF	chr10:45474320-45474470	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr10:45474340-45474490	Caco-2	colon:	n/a	n/a
18	SRF	chr10:45473824-45474795	MCF-7	breast:	n/a	chr10:45474367-45474377
19	KAP1	chr10:45473875-45474719	U2OS	brain:	n/a	n/a
20	CTCF	chr10:45474300-45474450	HCPEpiC	choroid plexus:	n/a	n/a
21	HCFC1	chr10:45474118-45474705	K562	blood:	n/a	n/a
22	STAT5A	chr10:45473889-45474499	GM12878	blood:	n/a	n/a
23	MXI1	chr10:45474119-45474393	K562	blood:	n/a	n/a
24	MYBL2	chr10:45470920-45474664	HepG2	liver:	n/a	n/a
25	EP300	chr10:45473669-45474609	K562	blood:	n/a	chr10:45474007-45474017
26	CTCF	chr10:45474300-45474450	AoAF	blood vessel:	n/a	n/a
27	POU2F2	chr10:45473931-45474519	GM12878	blood:	n/a	n/a
28	CTCF	chr10:45474280-45474430	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr10:45474300-45474450	MCF-7	breast:	n/a	n/a
30	MYC	chr10:45474229-45474487	MCF10A-Er-Src	breast:	n/a	chr10:45474367-45474377
31	POLR2A	chr10:45474033-45474579	K562	blood:	n/a	n/a
32	POLR2A	chr10:45471121-45474585	GM19193	blood:	n/a	n/a
33	MAFF	chr10:45474070-45474522	HepG2	liver:	n/a	n/a
34	POLR2A	chr10:45474011-45474446	GM12891	blood:	n/a	n/a
35	MAFK	chr10:45474116-45474524	K562	blood:	n/a	n/a
36	NFIC	chr10:45473980-45474448	GM12878	blood:	n/a	n/a
37	USF1	chr10:45473979-45474503	HepG2	liver:	n/a	n/a
38	CTCF	chr10:45474320-45474470	AG04450	lung:	n/a	n/a
39	POLR2A	chr10:45473937-45474474	ProgFib	skin:	n/a	n/a
40	FOSL2	chr10:45473879-45474566	HepG2	liver:	n/a	n/a
41	CTCF	chr10:45474240-45474390	HMEC	breast:	n/a	n/a
42	EP300	chr10:45474138-45474476	SK-N-SH_RA	brain:	n/a	n/a
43	BRCA1	chr10:45474041-45474581	HepG2	liver:	n/a	n/a
44	CHD2	chr10:45474179-45474477	K562	blood:	n/a	n/a
45	ELK1	chr10:45474197-45474408	K562	blood:	n/a	n/a
46	MEF2C	chr10:45474011-45474574	GM12878	blood:	n/a	chr10:45474319-45474334 chr10:45474321-45474335 chr10:45474316-45474337 chr10:45474323-45474334 chr10:45474322-45474333
47	STAT1	chr10:45473680-45474517	GM12878	blood:	n/a	chr10:45474488-45474500
48	EP300	chr10:45474098-45474643	SK-N-SH	brain:	n/a	n/a
49	YY1	chr10:45474177-45474414	HCT-116	colon:	n/a	n/a
50	CTCF	chr10:45474198-45474585	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:45474339-45474389	AG09319	gingival:	n/a
2	chr10:45474339-45474389	HCPEpiC	choroid plexus:	n/a
3	chr10:45474339-45474389	H1-hESC	embryonic stem cell:	embryo
4	chr10:45474339-45474389	AG04449	skin:	fetal
5	chr10:45474339-45474389	SKMC	muscle:	n/a
6	chr10:45474317-45474367	PANC-1	pancreas:	n/a
7	chr10:45474339-45474389	HCF	heart:	n/a
8	chr10:45474339-45474389	NB4	blood:	n/a
9	chr10:45474317-45474367	HCF	heart:	n/a
10	chr10:45474339-45474389	AG10803	skin:	n/a
11	chr10:45474339-45474389	GM06990	blood:	n/a
12	chr10:45474339-45474389	U87	brain:	n/a
13	chr10:45474339-45474389	IMR90	lung:	fetal
14	chr10:45474317-45474367	K562	blood:	n/a
15	chr10:45474339-45474389	LNCaP	prostate:	n/a
16	chr10:45474339-45474389	Jurkat	blood:	n/a
17	chr10:45474339-45474389	SK-N-SH_RA	brain:	n/a
18	chr10:45474339-45474389	HAEpiC	amniotic membrane:	n/a
19	chr10:45474317-45474367	GM12878	blood:	n/a
20	chr10:45474339-45474389	MCF-7	breast:	n/a
21	chr10:45474317-45474367	AG09309	skin:	n/a
22	chr10:45474317-45474367	NH-A	brain:	n/a
23	chr10:45474339-45474389	HIPEpiC	eye:	n/a
24	chr10:45474339-45474389	HepG2	liver:	n/a
25	chr10:45474339-45474389	NH-A	brain:	n/a
26	chr10:45474339-45474389	GM19239	blood:	n/a
27	chr10:45474317-45474367	HIPEpiC	eye:	n/a
28	chr10:45474317-45474367	A549	lung:	n/a
29	chr10:45474317-45474367	HCM	heart:	n/a
30	chr10:45474339-45474389	HL-60	blood:	n/a
31	chr10:45474317-45474367	BJ	skin:	n/a
32	chr10:45474339-45474389	NHBE	bronchial:	n/a
33	chr10:45474317-45474367	ECC-1	luminal epithelium:	n/a
34	chr10:45474317-45474367	NB4	blood:	n/a
35	chr10:45474339-45474389	BE2_C	brain:	n/a
36	chr10:45474317-45474367	HCT-116	colon:	n/a
37	chr10:45474339-45474389	ProgFib	skin:	n/a
38	chr10:45474339-45474389	PFSK-1	brain:	n/a
39	chr10:45474317-45474367	SAEC	small airway:	n/a
40	chr10:45474339-45474389	K562	blood:	n/a
41	chr10:45474339-45474389	NT2-D1	testis:	n/a
42	chr10:45474339-45474389	HRCEpiC	kidney:	n/a
43	chr10:45474317-45474367	GM19239	blood:	n/a
44	chr10:45474317-45474367	NT2-D1	testis:	n/a
45	chr10:45474317-45474367	AG10803	skin:	n/a
46	chr10:45474339-45474389	ECC-1	luminal epithelium:	n/a
47	chr10:45474317-45474367	AG04449	skin:	fetal
48	chr10:45474339-45474389	NHDF-neo	bronchial:	n/a
49	chr10:45474317-45474367	HNPCEpiC	eye:	n/a
50	chr10:45474339-45474389	HRPEpiC	eye:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45472874..45476114-chr10:45485945..45489321,3	MCF-7	breast:
2	chr10:45472768..45475523-chr10:45475664..45479867,4	MCF-7	breast:
3	chr10:45472874..45475868-chr10:45493532..45497096,3	K562	blood:
4	chr10:45473658..45475931-chr10:46089040..46091906,2	K562	blood:
5	chr10:45469560..45475620-chr10:45475961..45481693,7	MCF-7	breast:
6	chr10:45472274..45474352-chr10:45475240..45477414,3	K562	blood:
7	chr10:45474000..45475702-chr10:45494679..45496847,2	MCF-7	breast:
8	chr10:45452399..45456775-chr10:45472666..45475790,4	MCF-7	breast:
9	chr10:45424948..45428447-chr10:45472059..45474990,3	K562	blood:

No data

Variant related genes	Relation type
RASSF4	TF binding region
C10orf10	TF binding region
RASSF4	CpG island
C10orf10	CpG island
ENSG00000273363	Chromatin interaction
ENSG00000165406	Chromatin interaction
ENSG00000187783	Chromatin interaction
ENSG00000224812	Chromatin interaction
ENSG00000165511	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000165512	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11239299	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11239303	1.00[MEX][hapmap]
rs11239308	1.00[CEU][hapmap]
rs11239323	1.00[MEX][hapmap]
rs12359954	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740093	1.00[MEX][hapmap]
rs3758399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758400	1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41301599	0.96[EUR][1000 genomes]
rs61269477	0.96[EUR][1000 genomes];0.83[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	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
2	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2274888	C10orf10	cis	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45470800-45474400	Active TSS	Right Atrium	heart
2	chr10:45470800-45476400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:45470800-45477800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr10:45470800-45479400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:45471200-45474600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:45471400-45474400	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
7	chr10:45471400-45476600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr10:45471600-45476800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:45472200-45474400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr10:45472600-45474400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr10:45472600-45474400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr10:45472600-45474800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:45472800-45474400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr10:45472800-45474400	Active TSS	Liver	Liver
15	chr10:45472800-45474400	Genic enhancers	Monocytes-CD14+_RO01746	blood
16	chr10:45472800-45474600	Flanking Active TSS	Osteobl	bone
17	chr10:45473000-45474400	Active TSS	NHDF-Ad	bronchial
18	chr10:45473000-45474600	Flanking Active TSS	HSMM	muscle
19	chr10:45473000-45477800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr10:45473200-45474400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:45473200-45474400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:45473200-45474400	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr10:45473200-45474600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr10:45473200-45475000	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr10:45473400-45474400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:45473400-45474400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr10:45473400-45474400	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr10:45473400-45474400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr10:45473400-45474600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr10:45473400-45474600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr10:45473400-45474800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr10:45473400-45474800	Flanking Active TSS	Placenta	Placenta
33	chr10:45473400-45475200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:45473600-45474400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:45473600-45474400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr10:45473600-45474400	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr10:45473600-45474400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr10:45473600-45474400	Flanking Active TSS	Fetal Stomach	stomach
39	chr10:45473600-45474400	Active TSS	Left Ventricle	heart
40	chr10:45473600-45474400	Active TSS	Pancreas	Pancrea
41	chr10:45473600-45474400	Active TSS	Right Ventricle	heart
42	chr10:45473600-45474400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr10:45473600-45474600	Active TSS	Ovary	ovary
44	chr10:45473600-45475000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr10:45473600-45475000	Flanking Active TSS	Hela-S3	cervix
46	chr10:45473600-45475200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:45473600-45476400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:45473600-45476800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:45473800-45474400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
50	chr10:45473800-45474400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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