Variant report

Variant	rs57320366
Chromosome Location	chr3:53380659-53380660
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53378987..53381493-chr3:53513545..53516327,2	K562	blood:
2	chr3:53163489..53166052-chr3:53379929..53382792,2	K562	blood:
3	chr3:53379336..53381314-chr3:53710176..53712329,2	K562	blood:
4	chr3:53189408..53191760-chr3:53379077..53380692,2	MCF-7	breast:
5	chr3:53365993..53368934-chr3:53378363..53380732,2	K562	blood:

Variant related genes	Relation type
ENSG00000163933	Chromatin interaction
ENSG00000163932	Chromatin interaction
ENSG00000207109	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs55739626	1.00[AMR][1000 genomes]
rs55797425	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56138740	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56403138	1.00[AMR][1000 genomes]
rs57085673	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57188310	1.00[AMR][1000 genomes]
rs57530569	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58006923	1.00[AMR][1000 genomes]
rs58191586	1.00[AMR][1000 genomes]
rs58563464	1.00[AMR][1000 genomes]
rs58651265	1.00[AMR][1000 genomes]
rs60407612	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60891705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957562	1.00[AMR][1000 genomes]
rs73840109	1.00[AMR][1000 genomes]
rs73840110	1.00[AMR][1000 genomes]
rs73840113	1.00[AMR][1000 genomes]
rs73840218	1.00[AMR][1000 genomes]
rs73840219	1.00[AMR][1000 genomes]
rs73840220	1.00[AMR][1000 genomes]
rs73840224	1.00[AMR][1000 genomes]
rs73840228	1.00[AMR][1000 genomes]
rs73840236	1.00[AMR][1000 genomes]
rs73840239	1.00[AMR][1000 genomes]
rs73840247	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840260	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840281	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840298	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843111	1.00[AMR][1000 genomes]
rs73843112	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843113	1.00[AMR][1000 genomes]
rs73843115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843118	0.96[AFR][1000 genomes]
rs73843120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843124	1.00[AMR][1000 genomes]
rs73843127	1.00[AMR][1000 genomes]
rs73843129	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843130	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843148	1.00[AMR][1000 genomes]
rs874586	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53379400-53382200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:53379400-53382200	Active TSS	NHLF	lung
3	chr3:53379600-53381000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr3:53379600-53382200	Active TSS	NHDF-Ad	bronchial
5	chr3:53379600-53382400	Active TSS	A549	lung
6	chr3:53379600-53382400	Active TSS	HMEC	breast
7	chr3:53379800-53380800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:53379800-53380800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr3:53379800-53380800	Flanking Active TSS	Dnd41	blood
10	chr3:53379800-53381000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr3:53379800-53382000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:53379800-53382000	Active TSS	Fetal Muscle Leg	muscle
13	chr3:53379800-53382000	Active TSS	Osteobl	bone
14	chr3:53379800-53382200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:53379800-53382200	Active TSS	K562	blood
16	chr3:53379800-53382400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:53379800-53382400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:53380000-53381200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr3:53380000-53381200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr3:53380000-53382200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr3:53380000-53382200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:53380000-53382200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:53380000-53382200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:53380000-53382400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:53380000-53382400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr3:53380000-53382400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:53380000-53382400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:53380000-53382400	Active TSS	Fetal Intestine Large	intestine
29	chr3:53380000-53382400	Active TSS	GM12878-XiMat	blood
30	chr3:53380000-53382400	Active TSS	NH-A	brain
31	chr3:53380000-53382600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr3:53380200-53380800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr3:53380200-53380800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:53380200-53380800	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr3:53380200-53380800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr3:53380200-53380800	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr3:53380200-53380800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr3:53380200-53381000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr3:53380200-53381000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:53380200-53381000	Active TSS	Brain Germinal Matrix	brain
41	chr3:53380200-53381200	Active TSS	Right Atrium	heart
42	chr3:53380200-53381400	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr3:53380200-53381800	Active TSS	Fetal Brain Male	brain
44	chr3:53380200-53382000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:53380200-53382000	Active TSS	Fetal Stomach	stomach
46	chr3:53380200-53382200	Active TSS	Brain Angular Gyrus	brain
47	chr3:53380200-53382200	Active TSS	Colonic Mucosa	Colon
48	chr3:53380200-53382200	Active TSS	Fetal Kidney	kidney
49	chr3:53380200-53382200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr3:53380200-53382200	Active TSS	Ovary	ovary

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