Variant report

Variant	rs352045
Chromosome Location	chr4:74864687-74864688
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	CTBP2	chr4:74863847-74864774	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr4:74863931-74864785	H1-hESC	embryonic stem cell:	n/a	chr4:74864560-74864574 chr4:74864725-74864737
3	CTCF	chr4:74864600-74864750	HMF	breast:	n/a	n/a
4	JUND	chr4:74863967-74864749	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:74864540-74864690	HCFaa	heart:	n/a	n/a
6	CTCF	chr4:74864560-74864710	HAc	cerebellar:	n/a	n/a
7	RAD21	chr4:74864178-74864827	A549	lung:	n/a	chr4:74864560-74864574 chr4:74864725-74864737
8	RAD21	chr4:74864323-74864755	H1-hESC	embryonic stem cell:	n/a	chr4:74864560-74864574 chr4:74864725-74864737
9	ZNF143	chr4:74863893-74864803	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr4:74863986-74864725	A549	lung:	n/a	n/a
11	EP300	chr4:74864178-74864835	A549	lung:	n/a	n/a
12	CTCF	chr4:74864389-74864792	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr4:74864150-74864951	A549	lung:	n/a	n/a
14	ATF2	chr4:74863833-74864795	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr4:74864004-74864787	A549	lung:	n/a	chr4:74864475-74864484 chr4:74864621-74864629
16	POLR2A	chr4:74863792-74864744	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr4:74864560-74864710	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr4:74864580-74864730	AG04450	lung:	n/a	n/a
19	BCL3	chr4:74864089-74864845	A549	lung:	n/a	chr4:74864475-74864484 chr4:74864621-74864629
20	POLR2A	chr4:74863633-74864943	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr4:74863965-74864890	A549	lung:	n/a	chr4:74864175-74864184
22	GTF2F1	chr4:74864046-74864796	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr4:74864322-74864884	A549	lung:	n/a	chr4:74864560-74864574 chr4:74864725-74864737
24	CTCF	chr4:74864540-74864690	HPF	lung:	n/a	n/a
25	GATA3	chr4:74863746-74864821	A549	lung:	n/a	n/a
26	CTCF	chr4:74864580-74864730	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr4:74864540-74864690	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr4:74864540-74864690	HPAF	blood vessel:	n/a	n/a
29	SP1	chr4:74863929-74864762	A549	lung:	n/a	chr4:74864518-74864530 chr4:74864515-74864529 chr4:74864519-74864528
30	TAF1	chr4:74863773-74864780	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr4:74864540-74864690	HCPEpiC	choroid plexus:	n/a	n/a
32	POLR2A	chr4:74863599-74864803	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr4:74863895-74864748	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr4:74864490-74864726	Fibrobl	skin:	n/a	n/a
35	HDAC2	chr4:74864301-74864784	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3A	chr4:74863843-74864760	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr4:74863836-74864762	A549	lung:	n/a	n/a
38	MAX	chr4:74863988-74864822	H1-hESC	embryonic stem cell:	n/a	chr4:74864175-74864184
39	CTCF	chr4:74864560-74864710	AG04449	skin:	n/a	n/a
40	CTCF	chr4:74864560-74864710	AG09309	skin:	n/a	n/a
41	CTCF	chr4:74864580-74864730	A549	lung:	n/a	n/a
42	CTCF	chr4:74864560-74864710	SAEC	small airway:	n/a	n/a
43	MAX	chr4:74863686-74864994	A549	lung:	n/a	chr4:74864175-74864184
44	MYC	chr4:74863508-74865118	A549	lung:	n/a	chr4:74864175-74864184
45	RAD21	chr4:74864300-74864873	A549	lung:	n/a	chr4:74864560-74864574 chr4:74864725-74864737
46	CTCF	chr4:74864580-74864730	AG04449	skin:	n/a	n/a
47	USF2	chr4:74863891-74864769	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr4:74863820-74864925	H1-hESC	embryonic stem cell:	n/a	chr4:74864175-74864184
49	MAX	chr4:74863752-74864952	A549	lung:	n/a	chr4:74864175-74864184
50	RAD21	chr4:74864502-74864735	IMR90	lung:	n/a	chr4:74864560-74864574

Variant related genes	Relation type
CXCL5	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1156553	0.81[CEU][hapmap]
rs1156554	0.81[CEU][hapmap]
rs164615	0.81[CEU][hapmap]
rs168449	0.87[EUR][1000 genomes]
rs16850352	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16850354	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs183028	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes]
rs187080	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs187082	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1898002	0.81[CEU][hapmap]
rs191601	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs193263	0.87[EUR][1000 genomes]
rs2437285	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2457996	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes]
rs2564594	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs352007	0.84[EUR][1000 genomes]
rs352009	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes]
rs352010	0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs352018	0.81[CEU][hapmap]
rs352046	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3756075	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs377579	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes]
rs394408	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes]
rs409336	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs420389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs425535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426901	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs440676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs442155	0.83[EUR][1000 genomes]
rs447206	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs450373	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4694656	0.81[CEU][hapmap]
rs552582	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6838264	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr4:74861600-74864800	Active TSS	A549	lung
2	chr4:74861800-74865000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:74862800-74865000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr4:74863000-74864800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:74863600-74864800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr4:74863800-74864800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:74863800-74864800	Enhancers	Liver	Liver
8	chr4:74863800-74864800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:74863800-74864800	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr4:74864000-74864800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:74864000-74864800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:74864000-74864800	Active TSS	Brain Anterior Caudate	brain
13	chr4:74864000-74870000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:74864200-74864800	Active TSS	Brain Substantia Nigra	brain
15	chr4:74864400-74864800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:74864400-74864800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr4:74864400-74864800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:74864400-74864800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:74864400-74864800	Active TSS	Muscle Satellite Cultured Cells	--
20	chr4:74864400-74864800	Bivalent Enhancer	Lung	lung
21	chr4:74864400-74864800	Enhancers	Pancreas	Pancrea
22	chr4:74864400-74864800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr4:74864600-74864800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:74864600-74864800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr4:74864600-74864800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:74864600-74864800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:74864600-74864800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:74864600-74864800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:74864600-74864800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:74864600-74864800	Enhancers	Adipose Nuclei	Adipose
31	chr4:74864600-74864800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr4:74864600-74864800	Bivalent Enhancer	Brain Hippocampus Middle	brain
33	chr4:74864600-74864800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr4:74864600-74864800	Enhancers	HUVEC	blood vessel
35	chr4:74864600-74865000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:74864600-74865200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr4:74864600-74866000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:74864600-74870000	Weak transcription	HMEC	breast
39	chr4:74864600-74876600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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