Variant report

Variant	rs56120139
Chromosome Location	chr3:50512261-50512262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50511467..50513036-chr3:50538944..50541832,2	K562	blood:

Variant related genes	Relation type
ENSG00000007402	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55833676	1.00[AMR][1000 genomes]
rs56737163	1.00[AMR][1000 genomes]
rs57791592	1.00[AMR][1000 genomes]
rs59909173	1.00[AMR][1000 genomes]
rs61142614	1.00[AMR][1000 genomes]
rs72938724	1.00[EUR][1000 genomes]
rs73835230	1.00[AMR][1000 genomes]
rs73835234	1.00[AMR][1000 genomes]
rs73835506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73835508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73835540	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50492600-50528400	Weak transcription	Gastric	stomach
2	chr3:50493000-50518600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:50493800-50518800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:50502600-50515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:50502800-50520800	Weak transcription	Brain Anterior Caudate	brain
6	chr3:50508600-50512600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:50508600-50512800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:50508800-50517000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:50509000-50512800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:50509000-50512800	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:50509200-50517000	Weak transcription	Fetal Stomach	stomach
12	chr3:50509400-50513000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr3:50509600-50513000	Enhancers	Fetal Muscle Leg	muscle
14	chr3:50509800-50512600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:50510000-50518600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:50510200-50517400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:50510600-50512600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:50510800-50512400	Enhancers	Right Ventricle	heart
19	chr3:50511200-50512800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:50511400-50513000	Enhancers	Right Atrium	heart
21	chr3:50511400-50513000	Enhancers	Stomach Smooth Muscle	stomach
22	chr3:50511600-50512800	Enhancers	Brain Angular Gyrus	brain
23	chr3:50511600-50513000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:50511600-50518600	Weak transcription	Lung	lung
25	chr3:50511800-50512600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:50511800-50512800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:50511800-50512800	Enhancers	Fetal Lung	lung
28	chr3:50511800-50512800	Enhancers	HSMMtube	muscle
29	chr3:50512000-50512600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:50512000-50512600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:50512000-50512600	Enhancers	HSMM	muscle
32	chr3:50512000-50512600	Enhancers	K562	blood
33	chr3:50512000-50512600	Enhancers	NH-A	brain
34	chr3:50512000-50512800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:50512000-50512800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr3:50512000-50512800	Enhancers	HUVEC	blood vessel
37	chr3:50512000-50523000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr3:50512200-50512400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:50512200-50512600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:50512200-50512800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:50512200-50513200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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