Variant report

Variant	rs145149975
Chromosome Location	chr4:8012924-8012925
allele	-/CAC
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	NRF1	chr4:8012150-8012948	SK-N-SH	brain:	n/a	n/a
2	REST	chr4:8011968-8013117	H1-neurons	neurons:	n/a	n/a
3	MXI1	chr4:8011462-8013591	SK-N-SH	brain:	n/a	chr4:8012528-8012543 chr4:8012526-8012541
4	KAP1	chr4:8012252-8012950	U2OS	brain:	n/a	n/a
5	RFX5	chr4:8011448-8013671	SK-N-SH	brain:	n/a	chr4:8011874-8011888
6	KAP1	chr4:8012313-8013111	HEK293	kidney:	n/a	n/a
7	REST	chr4:8012341-8012945	SK-N-SH	brain:	n/a	n/a
8	NFIC	chr4:8012245-8012944	ECC-1	luminal epithelium:	n/a	chr4:8012596-8012612 chr4:8012596-8012613

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
ABLIM2	TF binding region
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:50 , 50 per page) page: 1

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	chr4:8010400-8015400	Weak transcription	Aorta	Aorta
4	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
5	chr4:8011200-8018200	Weak transcription	Spleen	Spleen
6	chr4:8011400-8013200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:8011400-8013400	Enhancers	Fetal Brain Male	brain
8	chr4:8011400-8013400	Enhancers	Fetal Muscle Leg	muscle
9	chr4:8011400-8013400	Enhancers	Fetal Stomach	stomach
10	chr4:8011600-8013000	Enhancers	Brain Angular Gyrus	brain
11	chr4:8011600-8013200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:8011600-8013200	Enhancers	Fetal Intestine Large	intestine
13	chr4:8011800-8013000	Enhancers	Fetal Intestine Small	intestine
14	chr4:8012000-8013000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:8012000-8013000	Enhancers	Ovary	ovary
16	chr4:8012000-8013000	Weak transcription	Stomach Mucosa	stomach
17	chr4:8012000-8013200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:8012000-8013200	Enhancers	Fetal Heart	heart
19	chr4:8012000-8013200	Enhancers	Stomach Smooth Muscle	stomach
20	chr4:8012200-8013000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:8012200-8013000	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:8012200-8013200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:8012200-8013200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr4:8012200-8014800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:8012400-8013000	Enhancers	Adipose Nuclei	Adipose
26	chr4:8012400-8013000	Enhancers	Fetal Kidney	kidney
27	chr4:8012400-8013000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:8012400-8013000	Enhancers	Right Ventricle	heart
29	chr4:8012400-8014000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:8012400-8015400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:8012400-8039000	Weak transcription	Gastric	stomach
32	chr4:8012600-8013000	Bivalent Enhancer	Placenta	Placenta
33	chr4:8012600-8013200	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:8012600-8013200	Enhancers	Brain Hippocampus Middle	brain
35	chr4:8012600-8013200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr4:8012600-8013400	Enhancers	Brain Substantia Nigra	brain
37	chr4:8012600-8013400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:8012600-8016200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:8012800-8013000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:8012800-8013000	Enhancers	Brain Anterior Caudate	brain
41	chr4:8012800-8013000	Enhancers	Brain Germinal Matrix	brain
42	chr4:8012800-8013000	Enhancers	Fetal Brain Female	brain
43	chr4:8012800-8013000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr4:8012800-8013200	Bivalent Enhancer	HepG2	liver
45	chr4:8012800-8013400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:8012800-8013400	Enhancers	Colon Smooth Muscle	Colon
47	chr4:8012800-8013400	Enhancers	Fetal Lung	lung
48	chr4:8012800-8013800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:8012800-8017200	Weak transcription	Right Atrium	heart
50	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea

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