Variant report

Variant	rs17134740
Chromosome Location	chr10:5333951-5333952
allele	C/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	ZNF384	chr10:5333799-5334000	K562	blood:	n/a	n/a
2	POLR2A	chr10:5333563-5334164	HL-60	blood:	n/a	n/a
3	ATF3	chr10:5333695-5334079	K562	blood:	n/a	n/a
4	CBX3	chr10:5333327-5334314	K562	blood:	n/a	n/a
5	CEBPB	chr10:5333418-5334399	Hela-S3	cervix:	n/a	chr10:5333459-5333476
6	CEBPB	chr10:5333332-5334222	A549	lung:	n/a	chr10:5333459-5333476
7	SIN3AK20	chr10:5333377-5334169	A549	lung:	n/a	n/a
8	NR3C1	chr10:5333376-5334334	A549	lung:	n/a	n/a
9	MAX	chr10:5333192-5334530	A549	lung:	n/a	n/a
10	RAD21	chr10:5333624-5334165	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr10:5333471-5334125	MCF-7	breast:	n/a	n/a
12	IRF1	chr10:5333723-5334166	K562	blood:	n/a	n/a
13	CEBPB	chr10:5333464-5334124	K562	blood:	n/a	n/a
14	USF2	chr10:5333642-5334137	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr10:5333787-5334021	K562	blood:	n/a	n/a
16	FOS	chr10:5333606-5334125	HUVEC	blood vessel:	n/a	chr10:5333883-5333894
17	POLR2A	chr10:5333688-5334305	Hela-S3	cervix:	n/a	n/a
18	SETDB1	chr10:5333726-5334230	U2OS	brain:	n/a	n/a
19	FOSL2	chr10:5333112-5334502	A549	lung:	n/a	n/a
20	TAF1	chr10:5333741-5334070	Hela-S3	cervix:	n/a	n/a
21	NR2F2	chr10:5333393-5334094	K562	blood:	n/a	n/a
22	USF1	chr10:5333437-5334155	A549	lung:	n/a	n/a
23	MAFK	chr10:5333585-5333989	K562	blood:	n/a	n/a
24	POLR2A	chr10:5333919-5334067	A549	lung:	n/a	n/a
25	SP1	chr10:5333137-5334503	A549	lung:	n/a	n/a
26	REST	chr10:5333486-5334122	A549	lung:	n/a	n/a
27	GTF2F1	chr10:5333504-5334307	Hela-S3	cervix:	n/a	n/a
28	NR3C1	chr10:5333385-5334075	A549	lung:	n/a	n/a
29	CUX1	chr10:5333801-5334150	K562	blood:	n/a	n/a
30	NR3C1	chr10:5333336-5334494	A549	lung:	n/a	n/a
31	MYC	chr10:5333581-5334250	MCF10A-Er-Src	breast:	n/a	n/a
32	JUND	chr10:5333615-5334087	K562	blood:	n/a	chr10:5333883-5333894
33	POLR2A	chr10:5333919-5334073	A549	lung:	n/a	n/a
34	EP300	chr10:5333168-5334350	A549	lung:	n/a	n/a
35	ATF3	chr10:5333223-5334296	A549	lung:	n/a	n/a
36	MAX	chr10:5333490-5334278	Hela-S3	cervix:	n/a	n/a
37	SP1	chr10:5333223-5334678	A549	lung:	n/a	n/a
38	POLR2A	chr10:5333434-5334246	U87	brain:	n/a	n/a
39	JUND	chr10:5333705-5334028	HepG2	liver:	n/a	chr10:5333883-5333894
40	FOS	chr10:5333472-5334195	MCF10A-Er-Src	breast:	n/a	chr10:5333883-5333894
41	TBP	chr10:5333618-5334202	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr10:5333435-5334384	K562	blood:	n/a	chr10:5333459-5333476
43	MAFF	chr10:5333601-5333971	K562	blood:	n/a	chr10:5333791-5333809
44	POLR2A	chr10:5333234-5334327	U87	brain:	n/a	n/a
45	CEBPB	chr10:5333445-5334098	ECC-1	luminal epithelium:	n/a	chr10:5333459-5333476
46	STAT3	chr10:5333625-5334199	MCF10A-Er-Src	breast:	n/a	n/a
47	TCF12	chr10:5332895-5334785	A549	lung:	n/a	n/a
48	CEBPB	chr10:5333174-5334557	A549	lung:	n/a	chr10:5333459-5333476
49	JUN	chr10:5333407-5334469	K562	blood:	n/a	n/a
50	FOXA2	chr10:5333382-5334275	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5333712..5336149-chr10:5487099..5489733,2	MCF-7	breast:
2	chr10:5325782..5327303-chr10:5331354..5334117,2	K562	blood:

Variant related genes	Relation type
AKR1C7P	TF binding region
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12412640	0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs12413671	0.83[ASN][1000 genomes]
rs12414032	0.82[AMR][1000 genomes]
rs12416300	0.82[ASN][1000 genomes]
rs17134748	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17134750	0.89[ASN][1000 genomes]
rs17306485	1.00[MKK][hapmap]
rs4609510	0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4881430	0.89[ASN][1000 genomes]
rs72778452	0.89[ASN][1000 genomes]
rs72778453	0.89[ASN][1000 genomes]
rs72778460	0.89[ASN][1000 genomes]
rs72778462	0.89[ASN][1000 genomes]
rs7475343	0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7476218	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv466715	chr10:5285597-5348491	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv466717	chr10:5285597-5348491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv549888	chr10:5285597-5348491	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv894795	chr10:5286600-5348491	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv894796	chr10:5300976-5348491	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5326000-5336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:5326600-5334200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:5326600-5337200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:5332200-5334000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:5332400-5334000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:5332600-5334600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr10:5332600-5334600	Flanking Active TSS	A549	lung
8	chr10:5332800-5334600	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:5332800-5336600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr10:5333000-5334000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:5333000-5334000	Weak transcription	Small Intestine	intestine
12	chr10:5333000-5334200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr10:5333000-5334600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr10:5333000-5336600	Enhancers	HMEC	breast
15	chr10:5333200-5334000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:5333200-5334200	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr10:5333200-5334400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:5333200-5334600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr10:5333200-5334600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:5333200-5334600	Flanking Active TSS	Dnd41	blood
21	chr10:5333200-5336600	Enhancers	HUVEC	blood vessel
22	chr10:5333400-5334000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:5333400-5334200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:5333400-5334200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr10:5333400-5334400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:5333400-5334400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr10:5333400-5334400	Flanking Active TSS	Hela-S3	cervix
28	chr10:5333400-5334400	Enhancers	NH-A	brain
29	chr10:5333400-5334600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:5333400-5334600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr10:5333400-5334600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr10:5333400-5334600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr10:5333400-5334600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr10:5333400-5334600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:5333400-5334600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:5333400-5334600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:5333400-5334600	Enhancers	Fetal Intestine Large	intestine
38	chr10:5333400-5334600	Enhancers	Fetal Intestine Small	intestine
39	chr10:5333400-5334600	Enhancers	Placenta	Placenta
40	chr10:5333400-5334600	Enhancers	NHLF	lung
41	chr10:5333400-5334800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:5333400-5336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:5333600-5334000	Enhancers	Stomach Mucosa	stomach
44	chr10:5333600-5334000	Flanking Active TSS	HepG2	liver
45	chr10:5333600-5334200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr10:5333600-5334200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr10:5333600-5334200	Active TSS	Colonic Mucosa	Colon
48	chr10:5333600-5334200	Enhancers	HSMM	muscle
49	chr10:5333600-5334400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr10:5333600-5334400	Enhancers	HUES6 Cell Line	embryonic stem cell

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