Variant report

Variant	rs7642787
Chromosome Location	chr3:52075944-52075945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52073219..52077192-chr3:52084183..52087148,3	K562	blood:
2	chr3:52075553..52077141-chr3:52077699..52080680,2	MCF-7	breast:
3	chr3:52073586..52075910-chr3:52075933..52079449,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13316105	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34162321	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4687607	0.86[ASN][1000 genomes]
rs7616695	0.87[ASN][1000 genomes]
rs7642881	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7644325	0.87[ASN][1000 genomes]
rs9848727	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9851576	0.86[ASN][1000 genomes]
rs9866081	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
9	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	esv1792042	chr3:52070955-52091254	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
12	esv1793040	chr3:52070955-52091254	Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
13	esv1797975	chr3:52070955-52091254	Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv1798814	chr3:52070955-52091254	Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
15	esv1797189	chr3:52070955-52101799	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	esv1798365	chr3:52070955-52101799	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52069600-52076200	Enhancers	Brain Angular Gyrus	brain
2	chr3:52070000-52076200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr3:52070200-52076200	Enhancers	Brain Cingulate Gyrus	brain
4	chr3:52070200-52076400	Enhancers	Brain Anterior Caudate	brain
5	chr3:52070800-52076200	Enhancers	Brain Hippocampus Middle	brain
6	chr3:52070800-52076200	Enhancers	Brain Substantia Nigra	brain
7	chr3:52071200-52079600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:52071600-52079400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:52071600-52080000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:52071800-52079400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:52072600-52076000	Enhancers	Fetal Brain Male	brain
12	chr3:52072600-52078200	Weak transcription	NHDF-Ad	bronchial
13	chr3:52072600-52078400	Weak transcription	Hela-S3	cervix
14	chr3:52072800-52076000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:52073200-52076200	Enhancers	Lung	lung
16	chr3:52074000-52083200	Weak transcription	Pancreas	Pancrea
17	chr3:52074200-52079400	Weak transcription	NH-A	brain
18	chr3:52074400-52076000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr3:52074400-52076200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:52074400-52078200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:52074400-52079200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:52074400-52079800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:52074400-52083200	Weak transcription	Liver	Liver
24	chr3:52074600-52076000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:52074600-52076200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:52074600-52079200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:52075000-52076200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:52075000-52077400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:52075200-52080600	Weak transcription	Gastric	stomach
30	chr3:52075400-52076000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:52075400-52077400	Weak transcription	Esophagus	oesophagus
32	chr3:52075400-52077600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:52075400-52077600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:52075400-52077800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:52075400-52078200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:52075400-52078200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:52075400-52078400	Weak transcription	Right Ventricle	heart
38	chr3:52075400-52078600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:52075400-52079200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:52075400-52079200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:52075400-52079400	Weak transcription	Left Ventricle	heart
42	chr3:52075400-52079400	Weak transcription	A549	lung
43	chr3:52075400-52079600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr3:52075400-52080000	Weak transcription	Psoas Muscle	Psoas
45	chr3:52075400-52080400	Weak transcription	Stomach Mucosa	stomach
46	chr3:52075600-52076000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:52075600-52076400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr3:52075600-52077400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:52075600-52077600	Weak transcription	Placenta	Placenta
50	chr3:52075600-52077800	Weak transcription	Fetal Stomach	stomach

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