Variant report

Variant	rs1025596
Chromosome Location	chr4:74810082-74810083
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	ZNF143	chr4:74809905-74810084	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr4:74809940-74810090	HPAF	blood vessel:	n/a	chr4:74810025-74810038
3	CTCF	chr4:74809940-74810090	HBMEC	blood vessel:	n/a	chr4:74810025-74810038
4	CTCF	chr4:74809960-74810110	HCM	heart:	n/a	chr4:74810025-74810038
5	CTCF	chr4:74809902-74810110	NHEK	skin:	n/a	chr4:74810025-74810038
6	RAD21	chr4:74809841-74810148	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr4:74809960-74810110	HCFaa	heart:	n/a	chr4:74810025-74810038
8	CTCF	chr4:74809980-74810130	HAc	cerebellar:	n/a	chr4:74810025-74810038
9	RAD21	chr4:74809732-74810234	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr4:74809960-74810110	HFF-Myc	foreskin:	n/a	chr4:74810025-74810038
11	CTCF	chr4:74809960-74810110	HUVEC	blood vessel:	n/a	chr4:74810025-74810038
12	ZBTB7A	chr4:74809806-74810230	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr4:74809960-74810110	HRE	kidney:	n/a	chr4:74810025-74810038

Variant related genes	Relation type
HNRNPA1P55	TF binding region
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]
rs1156553	0.97[EUR][1000 genomes]
rs1156554	0.88[EUR][1000 genomes]
rs13117734	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1594229	0.97[EUR][1000 genomes]
rs1594230	0.97[EUR][1000 genomes]
rs164615	0.97[EUR][1000 genomes]
rs164617	0.97[EUR][1000 genomes]
rs168449	0.81[EUR][1000 genomes]
rs168450	0.97[EUR][1000 genomes]
rs1821623	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs183028	0.81[EUR][1000 genomes]
rs1836663	0.97[EUR][1000 genomes]
rs189511	0.97[EUR][1000 genomes]
rs1898002	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs191601	0.81[EUR][1000 genomes]
rs193263	0.81[EUR][1000 genomes]
rs2043537	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2117721	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs240610	0.97[EUR][1000 genomes]
rs2457996	0.81[EUR][1000 genomes]
rs2472655	0.97[EUR][1000 genomes]
rs351997	0.97[EUR][1000 genomes]
rs352007	0.82[EUR][1000 genomes]
rs352009	0.81[EUR][1000 genomes]
rs352013	0.97[EUR][1000 genomes]
rs352018	0.97[EUR][1000 genomes]
rs352023	0.97[EUR][1000 genomes]
rs352024	0.97[EUR][1000 genomes]
rs352026	0.97[EUR][1000 genomes]
rs352027	0.97[EUR][1000 genomes]
rs352029	0.86[EUR][1000 genomes]
rs377579	0.81[EUR][1000 genomes]
rs394408	0.81[EUR][1000 genomes]
rs416176	0.92[EUR][1000 genomes]
rs434988	0.97[EUR][1000 genomes]
rs442155	0.80[EUR][1000 genomes]
rs447206	0.82[EUR][1000 genomes]
rs4694656	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs487834	0.97[EUR][1000 genomes]
rs552582	0.80[EUR][1000 genomes]
rs599746	0.97[EUR][1000 genomes]
rs614822	0.97[EUR][1000 genomes]
rs6820253	0.97[EUR][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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74809400-74810400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr4:74809600-74810200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:74809600-74810200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:74809600-74810200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:74809600-74810200	Bivalent/Poised TSS	NH-A	brain
6	chr4:74809600-74810400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:74809600-74810400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:74809600-74810400	Bivalent/Poised TSS	Osteobl	bone
9	chr4:74809600-74810600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:74809600-74810600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr4:74809600-74810600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:74809600-74810600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr4:74809600-74810600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr4:74809600-74810600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr4:74809600-74810600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:74809600-74810600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:74809600-74810600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:74809600-74810600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:74809600-74810600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
20	chr4:74809600-74810600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
21	chr4:74809600-74810600	Active TSS	HSMM	muscle
22	chr4:74809600-74810800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:74809600-74811000	Bivalent Enhancer	Fetal Heart	heart
24	chr4:74809800-74810200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:74809800-74810200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
26	chr4:74809800-74810200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr4:74809800-74810200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:74809800-74810200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
29	chr4:74809800-74810200	Bivalent Enhancer	Esophagus	oesophagus
30	chr4:74809800-74810200	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr4:74809800-74810200	Active TSS	Gastric	stomach
32	chr4:74809800-74810200	Flanking Active TSS	Lung	lung
33	chr4:74809800-74810200	Flanking Active TSS	Pancreas	Pancrea
34	chr4:74809800-74810200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
35	chr4:74809800-74810200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
36	chr4:74809800-74810200	Flanking Bivalent TSS/Enh	Thymus	Thymus
37	chr4:74809800-74810200	Flanking Active TSS	HMEC	breast
38	chr4:74809800-74810400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:74809800-74810400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:74809800-74810400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr4:74809800-74810400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:74809800-74810400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
43	chr4:74809800-74810400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr4:74809800-74810400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr4:74809800-74810400	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr4:74809800-74810400	Active TSS	Rectal Smooth Muscle	rectum
47	chr4:74809800-74810400	Bivalent/Poised TSS	Right Ventricle	heart
48	chr4:74809800-74810400	Bivalent/Poised TSS	NHEK	skin
49	chr4:74809800-74810600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr4:74809800-74810600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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