Variant report

Variant	rs7564984
Chromosome Location	chr2:64065999-64066000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63924568..63927226-chr2:64063446..64066245,2	MCF-7	breast:
2	chr2:64065422..64070588-chr2:64080925..64083417,5	K562	blood:
3	chr2:64037713..64041546-chr2:64062899..64066389,4	K562	blood:
4	chr2:64053563..64056956-chr2:64065611..64068830,7	K562	blood:
5	chr2:64023510..64026519-chr2:64063449..64067726,4	K562	blood:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction
ENSG00000143951	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11895799	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11902838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4493246	1.00[AMR][1000 genomes]
rs56353821	0.94[AFR][1000 genomes]
rs56679885	1.00[AMR][1000 genomes]
rs57170440	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57562367	1.00[AMR][1000 genomes]
rs57724389	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58127300	1.00[AMR][1000 genomes]
rs59148046	1.00[AMR][1000 genomes]
rs59886198	1.00[AMR][1000 genomes]
rs61110897	1.00[AMR][1000 genomes]
rs6716251	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726629	0.93[AFR][1000 genomes]
rs6749163	1.00[AMR][1000 genomes]
rs6749188	1.00[AMR][1000 genomes]
rs73934987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934992	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937270	0.90[AFR][1000 genomes]
rs73937430	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937432	1.00[AMR][1000 genomes]
rs7564727	0.87[AFR][1000 genomes]
rs7574047	1.00[AMR][1000 genomes]
rs7574933	1.00[AMR][1000 genomes]
rs7593707	1.00[AMR][1000 genomes]
rs7596420	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr2:64047800-64066600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:64055200-64067200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:64055400-64066400	Weak transcription	Psoas Muscle	Psoas
4	chr2:64059600-64066600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:64059600-64066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:64059800-64066800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:64061000-64067200	Weak transcription	Esophagus	oesophagus
8	chr2:64063000-64067200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:64063400-64067200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:64063400-64067200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:64063800-64066600	Enhancers	Dnd41	blood
12	chr2:64064000-64066000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:64064000-64066800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:64064400-64066000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:64064400-64067200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:64064600-64066800	Weak transcription	NHEK	skin
17	chr2:64064600-64067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:64064600-64067000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:64064600-64067000	Weak transcription	HMEC	breast
20	chr2:64064600-64067200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:64064600-64067200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:64064600-64067200	Weak transcription	Brain Angular Gyrus	brain
23	chr2:64064600-64067200	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:64064600-64067200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:64064600-64067200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:64064600-64067200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:64064600-64067400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:64064800-64067000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:64064800-64067000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:64064800-64067200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:64064800-64067200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:64065000-64067200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:64065000-64067200	Weak transcription	HSMMtube	muscle
34	chr2:64065200-64066800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:64065200-64067200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:64065200-64067200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:64065200-64067200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:64065600-64066200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:64065800-64066800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:64065800-64067200	Weak transcription	Aorta	Aorta
41	chr2:64065800-64071000	Active TSS	Liver	Liver

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