Variant report

Variant	rs546560252
Chromosome Location	chr4:8021741-8021742
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	POLR2A	chr4:8021737-8021920	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr4:8021614-8022198	MCF-7	breast:	n/a	n/a
3	STAT3	chr4:8021673-8021862	MCF10A-Er-Src	breast:	n/a	n/a
4	TCF12	chr4:8021680-8022221	MCF-7	breast:	n/a	n/a
5	REST	chr4:8020669-8021759	H1-neurons	neurons:	n/a	n/a
6	MAX	chr4:8021560-8022139	MCF-7	breast:	n/a	n/a
7	HDAC2	chr4:8021697-8022075	MCF-7	breast:	n/a	n/a
8	ZNF263	chr4:8021695-8022230	HEK293-T-REx	kidney:	n/a	n/a
9	GATA3	chr4:8021251-8022198	MCF-7	breast:	n/a	n/a
10	POLR2A	chr4:8021711-8022165	MCF-7	breast:	n/a	n/a

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
ENSG00000273267	TF binding region
ENSG00000273267	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8007800-8022000	Weak transcription	Esophagus	oesophagus
2	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
3	chr4:8012400-8039000	Weak transcription	Gastric	stomach
4	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
5	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
6	chr4:8014800-8031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:8016400-8027400	Weak transcription	Aorta	Aorta
8	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
9	chr4:8018800-8027200	Weak transcription	Psoas Muscle	Psoas
10	chr4:8020000-8022200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr4:8020000-8031400	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:8020800-8024000	Strong transcription	Spleen	Spleen
13	chr4:8021000-8022200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr4:8021000-8022400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:8021000-8022400	Active TSS	Brain Angular Gyrus	brain
16	chr4:8021200-8021800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:8021200-8021800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:8021200-8022000	Active TSS	Brain Substantia Nigra	brain
19	chr4:8021200-8022000	Bivalent Enhancer	NHEK	skin
20	chr4:8021200-8022200	Active TSS	Brain Cingulate Gyrus	brain
21	chr4:8021400-8021800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:8021400-8021800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:8021400-8022000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:8021400-8022200	Active TSS	Brain Anterior Caudate	brain
25	chr4:8021400-8022200	Active TSS	Brain Hippocampus Middle	brain
26	chr4:8021400-8022200	Enhancers	Fetal Brain Female	brain
27	chr4:8021400-8022200	Enhancers	Fetal Intestine Small	intestine
28	chr4:8021400-8023200	Enhancers	Brain Germinal Matrix	brain
29	chr4:8021400-8023400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:8021600-8021800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:8021600-8021800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:8021600-8021800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:8021600-8021800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr4:8021600-8021800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr4:8021600-8021800	Flanking Active TSS	Stomach Mucosa	stomach
36	chr4:8021600-8022000	Enhancers	Fetal Intestine Large	intestine
37	chr4:8021600-8022000	Enhancers	Fetal Lung	lung
38	chr4:8021600-8022200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr4:8021600-8022400	Bivalent Enhancer	Fetal Muscle Leg	muscle

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