Variant report

Variant	rs551209244
Chromosome Location	chr3:51988000-51988001
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	CEBPB	chr3:51987414-51988105	Hela-S3	cervix:	n/a	chr3:51987659-51987670
2	SPI1	chr3:51987421-51988653	HL-60	blood:	n/a	n/a
3	POLR2A	chr3:51987569-51988144	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:51987786-51988483	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:51987456-51988182	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr3:51987371-51988087	SK-N-SH	brain:	n/a	n/a
7	ZNF263	chr3:51987183-51988137	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:51987928..51991924-chr3:52001407..52003695,4	MCF-7	breast:
2	chr3:51987614..51990073-chr3:52025987..52029912,3	K562	blood:
3	chr3:51982600..51984410-chr3:51985795..51988136,2	K562	blood:
4	chr3:51985305..51989166-chr3:51989564..51992012,3	K562	blood:

Variant related genes	Relation type
GPR62	TF binding region
ENSG00000090097	Chromatin interaction
ENSG00000162244	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	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv876781	chr3:51985664-52009612	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv876782	chr3:51985664-52022779	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv876783	chr3:51987224-52009612	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv876784	chr3:51987224-52013242	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv3438711	chr3:51987612-51992410	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51977200-51989200	Weak transcription	Ovary	ovary
2	chr3:51977200-51992000	Weak transcription	Aorta	Aorta
3	chr3:51977400-51989200	Weak transcription	Esophagus	oesophagus
4	chr3:51977600-51989000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:51977600-51989000	Weak transcription	Pancreas	Pancrea
6	chr3:51977600-51989400	Weak transcription	Left Ventricle	heart
7	chr3:51977800-51989400	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:51980400-51989400	Weak transcription	Right Ventricle	heart
9	chr3:51980600-51989200	Weak transcription	Gastric	stomach
10	chr3:51980800-51988000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:51983400-51988400	Weak transcription	Colonic Mucosa	Colon
12	chr3:51983400-51989000	Weak transcription	Brain Anterior Caudate	brain
13	chr3:51983400-51989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:51983400-51989000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:51983400-51989400	Weak transcription	Lung	lung
16	chr3:51983600-51989000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:51983600-51989200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:51983600-51989200	Weak transcription	Adipose Nuclei	Adipose
19	chr3:51983600-51989200	Weak transcription	Spleen	Spleen
20	chr3:51983800-51990200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:51984000-51989200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:51984400-51989200	Weak transcription	Liver	Liver
23	chr3:51986200-51993400	Weak transcription	HepG2	liver
24	chr3:51987000-51988200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:51987000-51988200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:51987000-51988400	Enhancers	Hela-S3	cervix
27	chr3:51987000-51989000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr3:51987200-51988000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:51987200-51988000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:51987200-51988000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:51987200-51988000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:51987200-51988200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:51987200-51988200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:51987200-51988200	Enhancers	Osteobl	bone
35	chr3:51987200-51989000	Enhancers	Brain Angular Gyrus	brain
36	chr3:51987200-51989000	Enhancers	Brain Hippocampus Middle	brain
37	chr3:51987400-51988000	Enhancers	NH-A	brain
38	chr3:51987400-51988800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:51987600-51988000	Enhancers	HSMM	muscle
40	chr3:51987600-51989400	Enhancers	Brain Substantia Nigra	brain
41	chr3:51987600-51990200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr3:51987600-51992000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:51987800-51988000	Enhancers	HSMMtube	muscle
44	chr3:51987800-51988000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr3:51987800-51988200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:51987800-51988200	Enhancers	NHLF	lung
47	chr3:51987800-51989000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:51987800-51989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:51987800-51989200	Weak transcription	Psoas Muscle	Psoas
50	chr3:51988000-51988200	Enhancers	Right Atrium	heart

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