Variant report

Variant	rs59825859
Chromosome Location	chr3:47512090-47512091
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	chr3:47506187..47509677-chr3:47510013..47512919,3	K562	blood:
2	chr3:47510437..47514442-chr3:47515301..47518815,8	K562	blood:

Variant related genes	Relation type
ENSG00000114650	Chromatin interaction
ENSG00000238350	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1038392	0.89[AMR][1000 genomes]
rs12106745	0.89[AMR][1000 genomes]
rs56398518	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72911269	0.89[AMR][1000 genomes]
rs72911287	0.89[AMR][1000 genomes]
rs7642630	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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv3806	chr3:47488784-47518133	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47476600-47514200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:47484600-47514000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:47484600-47514200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr3:47484600-47514200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:47484600-47514200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:47484600-47514800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:47484800-47514800	Weak transcription	Thymus	Thymus
8	chr3:47485000-47514800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:47486000-47516000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:47486000-47516000	Weak transcription	Small Intestine	intestine
11	chr3:47486000-47516000	Weak transcription	HSMM	muscle
12	chr3:47486200-47516000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:47494600-47514000	Weak transcription	Esophagus	oesophagus
14	chr3:47494600-47514000	Weak transcription	Pancreas	Pancrea
15	chr3:47495400-47514600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:47497800-47514800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:47497800-47514800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:47497800-47514800	Weak transcription	Hela-S3	cervix
19	chr3:47497800-47516000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:47497800-47516000	Weak transcription	A549	lung
21	chr3:47497800-47516000	Weak transcription	NHDF-Ad	bronchial
22	chr3:47498800-47516000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:47499200-47514200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:47501000-47516200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:47501400-47516200	Weak transcription	HSMMtube	muscle
26	chr3:47502400-47516000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:47502800-47514800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:47502800-47515400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:47503200-47516000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr3:47503400-47516000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:47504000-47516200	Weak transcription	Gastric	stomach
32	chr3:47504400-47514000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:47504800-47514600	Weak transcription	Primary T cells from cord blood	blood
34	chr3:47504800-47514800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:47504800-47514800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:47504800-47515000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:47505000-47514600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr3:47505000-47514800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:47505000-47514800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:47505000-47515000	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:47505000-47516000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:47505200-47514200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:47505200-47514200	Weak transcription	Left Ventricle	heart
44	chr3:47505400-47514200	Weak transcription	Ovary	ovary
45	chr3:47505600-47516000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:47506800-47514200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:47506800-47516200	Weak transcription	Fetal Lung	lung
48	chr3:47507200-47514800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:47507200-47515000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:47507200-47516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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