Variant report

Variant	rs61484330
Chromosome Location	chr3:52601016-52601017
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	chr3:52569848..52572166-chr3:52599893..52603784,3	K562	blood:

Variant related genes	Relation type
ENSG00000168273	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17052269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052322	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052355	1.00[AMR][1000 genomes]
rs1971811	1.00[AMR][1000 genomes]
rs41415947	1.00[AMR][1000 genomes]
rs56815357	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57401769	1.00[AMR][1000 genomes]
rs57440640	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58242587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59078569	0.98[AFR][1000 genomes]
rs59410274	0.98[AFR][1000 genomes]
rs59789322	1.00[AMR][1000 genomes]
rs60351358	1.00[AMR][1000 genomes]
rs60404983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60832323	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61418167	0.98[AFR][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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv822092	chr3:52598226-52601851	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52572400-52633000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:52574400-52623800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:52574800-52605000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:52576800-52625600	Strong transcription	Fetal Thymus	thymus
5	chr3:52577600-52605200	Strong transcription	Dnd41	blood
6	chr3:52578200-52625600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:52578800-52601400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr3:52585800-52627400	Weak transcription	Fetal Heart	heart
9	chr3:52587000-52602400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:52589600-52611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:52591000-52688000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:52591200-52601400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:52592400-52601600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:52592600-52607600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:52592600-52610400	Weak transcription	A549	lung
18	chr3:52594400-52607800	Weak transcription	Aorta	Aorta
19	chr3:52594400-52614800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:52595200-52631000	Weak transcription	Stomach Mucosa	stomach
21	chr3:52595800-52607800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:52596000-52607600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:52596000-52608200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:52596000-52608200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:52596000-52608200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:52596000-52611800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:52596000-52612400	Weak transcription	Gastric	stomach
28	chr3:52596000-52622800	Weak transcription	K562	blood
29	chr3:52596000-52624200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:52596200-52601400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:52596200-52604000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:52596400-52611800	Weak transcription	Spleen	Spleen
33	chr3:52597400-52606800	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:52597400-52608000	Weak transcription	NHEK	skin
35	chr3:52597400-52611600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:52597600-52607600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:52597600-52608600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:52597600-52611800	Weak transcription	Pancreas	Pancrea
39	chr3:52597600-52612000	Weak transcription	Brain Substantia Nigra	brain
40	chr3:52597600-52612000	Weak transcription	Right Ventricle	heart
41	chr3:52597600-52612400	Weak transcription	Colonic Mucosa	Colon
42	chr3:52597600-52612600	Weak transcription	Esophagus	oesophagus
43	chr3:52597600-52612600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr3:52597800-52607600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:52597800-52611800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:52597800-52612400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:52597800-52612600	Weak transcription	Small Intestine	intestine
48	chr3:52598000-52604000	Weak transcription	Ovary	ovary
49	chr3:52598000-52607600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:52598000-52607800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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