Variant report

Variant	rs552231572
Chromosome Location	chr4:8012327-8012328
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8012081..8014539-chr4:8181803..8184689,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8007200-8018000	Weak transcription	Psoas Muscle	Psoas
2	chr4:8007800-8022000	Weak transcription	Esophagus	oesophagus
3	chr4:8008600-8012400	Weak transcription	Right Ventricle	heart
4	chr4:8009000-8012400	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:8009400-8012400	Weak transcription	Adipose Nuclei	Adipose
6	chr4:8010400-8015400	Weak transcription	Aorta	Aorta
7	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
8	chr4:8011200-8012400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:8011200-8018200	Weak transcription	Spleen	Spleen
10	chr4:8011400-8012400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:8011400-8012400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr4:8011400-8012600	Enhancers	Fetal Muscle Trunk	muscle
13	chr4:8011400-8012800	Enhancers	Pancreas	Pancrea
14	chr4:8011400-8013200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:8011400-8013400	Enhancers	Fetal Brain Male	brain
16	chr4:8011400-8013400	Enhancers	Fetal Muscle Leg	muscle
17	chr4:8011400-8013400	Enhancers	Fetal Stomach	stomach
18	chr4:8011600-8012400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr4:8011600-8012400	Flanking Active TSS	HepG2	liver
20	chr4:8011600-8012600	Enhancers	Duodenum Mucosa	Duodenum
21	chr4:8011600-8012800	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr4:8011600-8013000	Enhancers	Brain Angular Gyrus	brain
23	chr4:8011600-8013200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:8011600-8013200	Enhancers	Fetal Intestine Large	intestine
25	chr4:8011800-8012400	Flanking Active TSS	Fetal Lung	lung
26	chr4:8011800-8012600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr4:8011800-8012600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr4:8011800-8012800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:8011800-8013000	Enhancers	Fetal Intestine Small	intestine
30	chr4:8012000-8012400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr4:8012000-8012400	Flanking Active TSS	Fetal Brain Female	brain
32	chr4:8012000-8012400	Enhancers	Gastric	stomach
33	chr4:8012000-8012400	Enhancers	Small Intestine	intestine
34	chr4:8012000-8012600	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr4:8012000-8012600	Enhancers	Colonic Mucosa	Colon
36	chr4:8012000-8012800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:8012000-8012800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:8012000-8013000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:8012000-8013000	Enhancers	Ovary	ovary
40	chr4:8012000-8013000	Weak transcription	Stomach Mucosa	stomach
41	chr4:8012000-8013200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:8012000-8013200	Enhancers	Fetal Heart	heart
43	chr4:8012000-8013200	Enhancers	Stomach Smooth Muscle	stomach
44	chr4:8012200-8012400	Flanking Active TSS	Fetal Kidney	kidney
45	chr4:8012200-8012400	Bivalent Enhancer	HSMMtube	muscle
46	chr4:8012200-8012400	Bivalent Enhancer	NH-A	brain
47	chr4:8012200-8012600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:8012200-8012600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:8012200-8012600	Active TSS	Brain Anterior Caudate	brain
50	chr4:8012200-8012600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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