Variant report

Variant	rs4696724
Chromosome Location	chr4:7987064-7987065
allele	A/T
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	CTCF	chr4:7986920-7987070	HEK293	kidney:	n/a	n/a
2	CTCF	chr4:7986960-7987110	GM12872	blood:	n/a	chr4:7987081-7987089
3	CTCF	chr4:7986920-7987070	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr4:7986940-7987090	AG04449	skin:	n/a	chr4:7987081-7987089

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7982215..7985170-chr4:7985495..7987162,2	MCF-7	breast:

Variant related genes	Relation type
ABLIM2	TF binding region
ENSG00000163995	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12644791	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1317285	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1574393	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16841523	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28447132	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28461913	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28480985	0.87[AMR][1000 genomes]
rs28653042	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28712356	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696662	0.96[ASN][1000 genomes]
rs4696663	0.82[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4696725	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696927	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4696930	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4696933	0.94[ASN][1000 genomes]
rs6818752	0.84[AMR][1000 genomes]
rs6824006	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6830083	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6841948	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs7664556	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7695963	0.90[AMR][1000 genomes]
rs9685030	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv878579	chr4:7969594-8011696	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
2	chr4:7974400-7989400	Weak transcription	Gastric	stomach
3	chr4:7975800-7988400	Weak transcription	Aorta	Aorta
4	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:7976000-7988000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:7978800-7987800	Weak transcription	Fetal Kidney	kidney
7	chr4:7978800-8006000	Weak transcription	Brain Anterior Caudate	brain
8	chr4:7979600-8011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:7980600-7987400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:7980800-7987200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:7980800-7987800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:7981000-7987400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:7981000-7987600	Weak transcription	Right Atrium	heart
14	chr4:7981000-7987800	Weak transcription	Left Ventricle	heart
15	chr4:7981000-7989400	Weak transcription	A549	lung
16	chr4:7981000-7992000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:7981200-7987200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:7981400-7987400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:7981600-7987400	Weak transcription	Lung	lung
20	chr4:7981600-7989400	Weak transcription	Esophagus	oesophagus
21	chr4:7982000-7987400	Weak transcription	HUVEC	blood vessel
22	chr4:7982000-7987400	Weak transcription	NH-A	brain
23	chr4:7982000-7987600	Weak transcription	Osteobl	bone
24	chr4:7982200-7987400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:7982200-7987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:7983200-7987400	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:7983600-7987400	Weak transcription	Fetal Heart	heart
28	chr4:7983600-7988200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:7983800-7987800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:7984000-7987600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:7984200-7987400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:7985400-8004800	Weak transcription	Brain Angular Gyrus	brain
33	chr4:7985600-7987800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:7985800-7987400	Bivalent Enhancer	HepG2	liver
35	chr4:7986000-7987400	Weak transcription	Fetal Intestine Large	intestine
36	chr4:7986000-7987800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr4:7986000-7988000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:7986000-7988200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:7986200-7988200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:7986400-7987400	Weak transcription	Fetal Intestine Small	intestine
41	chr4:7986400-7988000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:7986600-7987200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
43	chr4:7986800-7987400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:7986800-7987400	Weak transcription	Spleen	Spleen
45	chr4:7986800-7988000	Weak transcription	Colonic Mucosa	Colon
46	chr4:7986800-7993600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:7986800-8011400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:7987000-7987200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr4:7987000-7988200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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