Variant report

Variant	rs352013
Chromosome Location	chr4:74810423-74810424
allele	A/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	EGR1	chr4:74810251-74810573	ECC-1	luminal epithelium:	n/a	chr4:74810260-74810275 chr4:74810274-74810281
2	E2F4	chr4:74810318-74810699	MCF10A-Er-Src	breast:	n/a	n/a
3	MAZ	chr4:74810306-74810506	K562	blood:	n/a	n/a
4	MAX	chr4:74810278-74810553	K562	blood:	n/a	n/a
5	RCOR1	chr4:74810278-74810607	K562	blood:	n/a	n/a
6	EGR1	chr4:74810112-74810561	K562	blood:	n/a	chr4:74810260-74810275 chr4:74810274-74810281
7	CCNT2	chr4:74810327-74810502	K562	blood:	n/a	n/a
8	EGR1	chr4:74810102-74810567	K562	blood:	n/a	chr4:74810260-74810275 chr4:74810274-74810281

Variant related genes	Relation type
CXCL1P	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1025596	0.97[EUR][1000 genomes]
rs1156553	1.00[EUR][1000 genomes]
rs1156554	0.90[EUR][1000 genomes]
rs13117734	1.00[EUR][1000 genomes]
rs1594229	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1594230	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs164615	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168449	0.83[EUR][1000 genomes]
rs168450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1821623	1.00[EUR][1000 genomes]
rs183028	0.83[EUR][1000 genomes]
rs1836663	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs189511	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898002	1.00[EUR][1000 genomes]
rs191601	0.83[EUR][1000 genomes]
rs193263	0.83[EUR][1000 genomes]
rs2043537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117721	1.00[EUR][1000 genomes]
rs240610	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457996	0.83[EUR][1000 genomes]
rs2472655	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs351997	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352007	0.84[EUR][1000 genomes]
rs352009	0.83[EUR][1000 genomes]
rs352018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352023	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352026	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs352027	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352029	0.89[EUR][1000 genomes]
rs377579	0.83[EUR][1000 genomes]
rs394408	0.83[EUR][1000 genomes]
rs416176	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434988	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442155	0.82[EUR][1000 genomes]
rs447206	0.85[EUR][1000 genomes]
rs4694656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487834	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552582	0.82[EUR][1000 genomes]
rs599746	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs614822	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6820253	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	esv1010272	chr4:74802868-74813081	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74809600-74810600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:74809600-74810600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr4:74809600-74810600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:74809600-74810600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr4:74809600-74810600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr4:74809600-74810600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr4:74809600-74810600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:74809600-74810600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:74809600-74810600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:74809600-74810600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:74809600-74810600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
12	chr4:74809600-74810600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
13	chr4:74809600-74810600	Active TSS	HSMM	muscle
14	chr4:74809600-74810800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:74809600-74811000	Bivalent Enhancer	Fetal Heart	heart
16	chr4:74809800-74810600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr4:74809800-74810600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:74809800-74810600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:74809800-74810600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:74809800-74810600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:74809800-74810600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:74809800-74810600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr4:74809800-74810600	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr4:74809800-74810600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:74809800-74810600	Bivalent Enhancer	Fetal Brain Male	brain
26	chr4:74809800-74810600	Bivalent Enhancer	Placenta	Placenta
27	chr4:74809800-74810600	Bivalent Enhancer	Fetal Thymus	thymus
28	chr4:74809800-74810600	Active TSS	Right Atrium	heart
29	chr4:74809800-74810600	Bivalent Enhancer	Small Intestine	intestine
30	chr4:74809800-74810600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr4:74809800-74810600	Active TSS	A549	lung
32	chr4:74809800-74810600	Bivalent/Poised TSS	NHDF-Ad	bronchial
33	chr4:74809800-74810800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr4:74810000-74810600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:74810000-74810600	Active TSS	Aorta	Aorta
36	chr4:74810000-74810600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
37	chr4:74810000-74810600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
38	chr4:74810000-74810600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr4:74810000-74810600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr4:74810000-74810600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr4:74810000-74810600	Bivalent/Poised TSS	NHLF	lung
42	chr4:74810000-74810800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr4:74810000-74811200	Enhancers	K562	blood
44	chr4:74810200-74810600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:74810200-74810600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr4:74810200-74810600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:74810200-74810600	Active TSS	Colonic Mucosa	Colon
48	chr4:74810200-74810600	Bivalent Enhancer	Left Ventricle	heart
49	chr4:74810200-74810600	Active TSS	Pancreas	Pancrea
50	chr4:74810200-74810600	Active TSS	Rectal Mucosa Donor 29	rectum

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