Variant report

Variant	rs62300077
Chromosome Location	chr4:47465090-47465091
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47464764..47466968-chr8:67973543..67975836,2	MCF-7	breast:
2	chr4:47447254..47449925-chr4:47463916..47465485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10016916	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10017560	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028945	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10470771	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934717	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11940241	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12510975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13434696	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16860198	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4130363	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403019	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635794	0.81[EUR][1000 genomes]
rs62297852	0.91[ASN][1000 genomes]
rs62297855	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62297856	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62297858	0.94[ASN][1000 genomes]
rs62300078	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234555	0.94[ASN][1000 genomes]
rs73234578	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234586	0.88[ASN][1000 genomes]
rs73234587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436716	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672333	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678771	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7679148	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7693987	0.81[EUR][1000 genomes]
rs9998407	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 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	chr4:47452600-47465200	Weak transcription	Spleen	Spleen
2	chr4:47464000-47465200	Flanking Active TSS	Dnd41	blood
3	chr4:47464400-47465200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr4:47464400-47465200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr4:47464400-47465200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:47464400-47465400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr4:47464400-47465400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:47464400-47466000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:47464600-47465200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:47464600-47465200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr4:47464600-47465200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr4:47464600-47465200	Flanking Active TSS	Hela-S3	cervix
13	chr4:47464600-47465200	Flanking Active TSS	HUVEC	blood vessel
14	chr4:47464600-47465200	Flanking Active TSS	NH-A	brain
15	chr4:47464600-47465200	Flanking Active TSS	Osteobl	bone
16	chr4:47464600-47465400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:47464600-47465800	Active TSS	Muscle Satellite Cultured Cells	--
18	chr4:47464600-47466000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:47464600-47466000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr4:47464600-47466000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:47464600-47466000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:47464600-47466000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr4:47464600-47466000	Active TSS	Rectal Smooth Muscle	rectum
24	chr4:47464600-47466200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr4:47464600-47466200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:47464600-47466200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr4:47464600-47466200	Active TSS	NHLF	lung
28	chr4:47464600-47466400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:47464800-47465200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr4:47464800-47465200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr4:47464800-47465200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr4:47464800-47465200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr4:47464800-47465200	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr4:47464800-47465200	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr4:47464800-47465200	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr4:47464800-47465200	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr4:47464800-47465200	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr4:47464800-47465200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr4:47464800-47465200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr4:47464800-47465200	Flanking Active TSS	Fetal Lung	lung
41	chr4:47464800-47465200	Flanking Active TSS	K562	blood
42	chr4:47464800-47465400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr4:47464800-47465400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr4:47464800-47465400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr4:47464800-47465400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr4:47464800-47465400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:47464800-47465400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:47464800-47465400	Flanking Active TSS	Fetal Thymus	thymus
49	chr4:47464800-47465400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr4:47464800-47465800	Active TSS	GM12878-XiMat	blood

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