Variant report

Variant	rs754997
Chromosome Location	chr6:133594176-133594177
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr6:133594011-133594276	MCF10A-Er-Src	breast:	n/a	n/a
2	FOXA2	chr6:133593934-133594190	A549	lung:	n/a	n/a
3	MXI1	chr6:133593897-133594280	Hela-S3	cervix:	n/a	n/a
4	MYC	chr6:133593847-133594282	K562	blood:	n/a	n/a
5	POLR2A	chr6:133593909-133594213	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXM1	chr6:133593879-133594217	GM12878	blood:	n/a	n/a
7	FOS	chr6:133593906-133594277	MCF10A-Er-Src	breast:	n/a	n/a
8	MYBL2	chr6:133593824-133594199	HepG2	liver:	n/a	n/a
9	MAX	chr6:133593906-133594281	K562	blood:	n/a	n/a
10	STAT1	chr6:133593848-133594281	GM12878	blood:	n/a	n/a
11	TCF7L2	chr6:133593847-133594281	Hela-S3	cervix:	n/a	n/a
12	WRNIP1	chr6:133593898-133594281	GM12878	blood:	n/a	n/a
13	ZNF274	chr6:133593901-133594282	Hela-S3	cervix:	n/a	n/a
14	USF2	chr6:133593902-133594282	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr6:133593847-133594281	GM12878	blood:	n/a	n/a
16	GATA3	chr6:133593848-133594280	MCF-7	breast:	n/a	n/a
17	ZNF263	chr6:133593845-133594282	HEK293-T-REx	kidney:	n/a	n/a
18	TBP	chr6:133593791-133594284	K562	blood:	n/a	n/a
19	MYC	chr6:133593908-133594277	MCF10A-Er-Src	breast:	n/a	n/a
20	TAL1	chr6:133593899-133594277	K562	blood:	n/a	n/a
21	SETDB1	chr6:133593904-133594271	U2OS	brain:	n/a	n/a
22	ZMIZ1	chr6:133593848-133594282	K562	blood:	n/a	n/a
23	CTCF	chr6:133594040-133594190	GM12875	blood:	n/a	n/a
24	MAFK	chr6:133593847-133594281	Hela-S3	cervix:	n/a	n/a
25	MYC	chr6:133593904-133594278	MCF10A-Er-Src	breast:	n/a	n/a
26	ATF3	chr6:133593875-133594187	A549	lung:	n/a	n/a
27	YY1	chr6:133593915-133594182	HepG2	liver:	n/a	n/a
28	UBTF	chr6:133593844-133594284	K562	blood:	n/a	n/a
29	UBTF	chr6:133593844-133594284	K562	blood:	n/a	n/a
30	CTCF	chr6:133594060-133594210	HFF-Myc	foreskin:	n/a	n/a
31	SMC3	chr6:133593897-133594282	K562	blood:	n/a	n/a
32	FOXA1	chr6:133593908-133594185	HepG2	liver:	n/a	n/a
33	ETS1	chr6:133593825-133594176	A549	lung:	n/a	n/a
34	SP1	chr6:133593897-133594286	A549	lung:	n/a	n/a
35	STAT3	chr6:133593906-133594271	MCF10A-Er-Src	breast:	n/a	n/a
36	TBP	chr6:133593790-133594284	HepG2	liver:	n/a	n/a
37	ELF1	chr6:133593814-133594185	GM12878	blood:	n/a	n/a
38	IRF1	chr6:133593902-133594282	K562	blood:	n/a	n/a
39	E2F4	chr6:133593908-133594279	MCF10A-Er-Src	breast:	n/a	n/a
40	RFX5	chr6:133593791-133594281	K562	blood:	n/a	n/a
41	BCL3	chr6:133593947-133594201	K562	blood:	n/a	n/a
42	GTF2F1	chr6:133593795-133594284	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAZ	chr6:133593896-133594281	Hela-S3	cervix:	n/a	n/a
44	HMGN3	chr6:133593903-133594276	K562	blood:	n/a	n/a
45	CHD2	chr6:133593795-133594281	Hela-S3	cervix:	n/a	n/a
46	HCFC1	chr6:133593747-133594419	Hela-S3	cervix:	n/a	n/a
47	ZC3H11A	chr6:133593795-133594281	K562	blood:	n/a	n/a
48	FOS	chr6:133593902-133594277	MCF10A-Er-Src	breast:	n/a	n/a
49	MAZ	chr6:133593791-133594283	K562	blood:	n/a	n/a
50	CHD2	chr6:133593795-133594279	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:70296625..70297182-chr6:133594074..133594625,3	MCF-7	breast:

No data

Variant related genes	Relation type
EYA4	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1022695	0.86[ASN][1000 genomes]
rs10872404	0.80[CHB][hapmap]
rs1811876	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015979	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145347	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2145348	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2180730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2327321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35047285	0.88[ASN][1000 genomes]
rs3734277	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6941113	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6941848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9321395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9321396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9321397	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9321398	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9321399	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9389063	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399059	0.83[CHB][hapmap]
rs9483564	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9483565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9483566	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9483568	0.88[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9493579	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9493580	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9493581	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9493582	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9493583	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs950374	0.83[CHB][hapmap]
rs971589	0.83[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs973714	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv470862	chr6:133492507-133600402	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv886678	chr6:133550279-133631190	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv5483	chr6:133554303-133599338	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv886679	chr6:133578733-133635272	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133581000-133599000	Weak transcription	A549	lung
2	chr6:133592400-133594200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr6:133593400-133594200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:133593400-133594200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
5	chr6:133593600-133594200	ZNF genes & repeats	Gastric	stomach
6	chr6:133593800-133594200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:133593800-133594200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr6:133593800-133594200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr6:133593800-133594200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:133593800-133594200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
11	chr6:133593800-133594200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:133593800-133594200	ZNF genes & repeats	Aorta	Aorta
13	chr6:133593800-133594200	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr6:133593800-133594200	ZNF genes & repeats	Left Ventricle	heart
15	chr6:133593800-133594200	ZNF genes & repeats	Pancreas	Pancrea
16	chr6:133593800-133594200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
17	chr6:133593800-133594200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
18	chr6:133593800-133594200	ZNF genes & repeats	Spleen	Spleen
19	chr6:133593800-133594200	ZNF genes & repeats	Hela-S3	cervix
20	chr6:133594000-133594200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr6:133594000-133594200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:133594000-133594200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:133594000-133594200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:133594000-133594200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:133594000-133594200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:133594000-133594200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:133594000-133594200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:133594000-133594200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr6:133594000-133594200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr6:133594000-133594200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr6:133594000-133594200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr6:133594000-133594200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:133594000-133594200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:133594000-133594200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:133594000-133594200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:133594000-133594200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr6:133594000-133594200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
38	chr6:133594000-133594200	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr6:133594000-133594200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
40	chr6:133594000-133594200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
41	chr6:133594000-133594200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
42	chr6:133594000-133594200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:133594000-133594200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
44	chr6:133594000-133594200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
45	chr6:133594000-133594200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:133594000-133594200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
47	chr6:133594000-133594200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:133594000-133594200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
49	chr6:133594000-133594200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:133594000-133594200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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