Variant report

Variant	rs549126792
Chromosome Location	chr4:8023570-8023571
allele	G/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	RAD21	chr4:8023485-8024011	A549	lung:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
2	RAD21	chr4:8023525-8023868	HepG2	liver:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
3	RAD21	chr4:8023495-8023855	HepG2	liver:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
4	CTCF	chr4:8023560-8023710	NHEK	skin:	n/a	n/a
5	MAX	chr4:8023511-8023912	ECC-1	luminal epithelium:	n/a	n/a
6	RAD21	chr4:8023558-8023829	HepG2	liver:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
7	CTCF	chr4:8023560-8023710	HRPEpiC	eye:	n/a	n/a
8	CTCF	chr4:8023560-8023710	HFF-Myc	foreskin:	n/a	n/a
9	RAD21	chr4:8023520-8023876	SK-N-SH_RA	brain:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
10	BHLHE40	chr4:8023560-8023959	K562	blood:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
11	CTCF	chr4:8023441-8024007	A549	lung:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
12	RAD21	chr4:8023547-8023887	IMR90	lung:	n/a	chr4:8023717-8023731 chr4:8023713-8023732 chr4:8023721-8023734
13	USF1	chr4:8023552-8023937	ECC-1	luminal epithelium:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
14	CTCF	chr4:8023349-8023971	SK-N-SH	brain:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
15	CTCF	chr4:8023440-8023590	NHEK	skin:	n/a	n/a
16	BHLHE40	chr4:8023530-8024019	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
17	CTCF	chr4:8023509-8023890	K562	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8020577..8022876-chr4:8022955..8025277,2	MCF-7	breast:

Variant related genes	Relation type
ABLIM2	TF binding region
ENSG00000273267	TF binding region
ENSG00000163995	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
4	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
5	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
6	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878580	chr4:8012167-8045469	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv470009	chr4:8015421-8085174	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878581	chr4:8021592-8100272	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv878582	chr4:8023484-8047973	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv878583	chr4:8023484-8049713	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv878584	chr4:8023484-8075134	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv878585	chr4:8023484-8116202	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv878586	chr4:8023484-8148159	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
2	chr4:8012400-8039000	Weak transcription	Gastric	stomach
3	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
4	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
5	chr4:8014800-8031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:8016400-8027400	Weak transcription	Aorta	Aorta
7	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
8	chr4:8018800-8027200	Weak transcription	Psoas Muscle	Psoas
9	chr4:8020000-8031400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:8020800-8024000	Strong transcription	Spleen	Spleen
11	chr4:8021800-8025000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:8022000-8037600	Weak transcription	Lung	lung
13	chr4:8022200-8023600	Enhancers	Brain Hippocampus Middle	brain
14	chr4:8022200-8040600	Weak transcription	Fetal Brain Female	brain
15	chr4:8022400-8023800	Enhancers	Brain Cingulate Gyrus	brain
16	chr4:8022400-8023800	Enhancers	Brain Substantia Nigra	brain
17	chr4:8022400-8025600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:8022400-8031000	Weak transcription	Esophagus	oesophagus
19	chr4:8022400-8035400	Weak transcription	Brain Anterior Caudate	brain
20	chr4:8022400-8039000	Weak transcription	Brain Angular Gyrus	brain
21	chr4:8023000-8023600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:8023200-8039600	Weak transcription	Brain Germinal Matrix	brain
23	chr4:8023200-8041000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:8023400-8023600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:8023400-8023800	Bivalent Enhancer	HepG2	liver

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