Variant report

Variant	rs62521808
Chromosome Location	chr8:124169568-124169569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
2	chr8:124169456..124169969-chr8:124179158..124179980,2	MCF-7	breast:
3	chr8:124167564..124170278-chr8:124251813..124254580,3	MCF-7	breast:
4	chr8:124169245..124176335-chr8:124192965..124197106,7	MCF-7	breast:
5	chr8:124167057..124172229-chr8:124191118..124196313,7	K562	blood:
6	chr8:124166527..124173335-chr8:124188357..124196720,12	K562	blood:
7	chr8:124162829..124164845-chr8:124169567..124172468,2	K562	blood:
8	chr8:124169009..124171699-chr8:124285530..124287388,2	K562	blood:
9	chr8:124052015..124054653-chr8:124168491..124170675,2	K562	blood:
10	chr8:124169199..124171377-chr8:124223544..124226331,3	MCF-7	breast:
11	chr8:124168117..124171297-chr8:124171831..124175255,6	K562	blood:
12	chr8:123791785..123795272-chr8:124167188..124172743,5	MCF-7	breast:
13	chr8:124167982..124170963-chr8:124285377..124287525,2	MCF-7	breast:
14	chr8:124165080..124167833-chr8:124169461..124172051,4	K562	blood:
15	chr8:124168721..124173901-chr8:124230598..124235089,6	MCF-7	breast:
16	chr8:124167743..124172035-chr8:124177154..124180052,5	MCF-7	breast:
17	chr8:124168965..124171699-chr8:124285883..124287388,2	K562	blood:
18	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:
19	chr8:124083388..124086760-chr8:124168101..124170880,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189376	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000272043	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000221461	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000156787	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000272384	Chromatin interaction
ENSG00000178764	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10111810	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16898043	0.86[EUR][1000 genomes]
rs17315999	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17316158	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59229243	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59428574	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62521797	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62521799	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62521801	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62521803	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62521805	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62521806	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62521807	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73339621	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73339623	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73339626	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73339658	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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 lncRNA miRNA miRNA target site	32 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	chr8:124168600-124170600	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr8:124168600-124171000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:124168600-124171400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:124168600-124171800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:124168800-124169600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr8:124168800-124169600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:124168800-124170000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:124168800-124170000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:124168800-124170000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:124168800-124170000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:124168800-124170000	Active TSS	Primary hematopoietic stem cells	blood
12	chr8:124168800-124170200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:124168800-124170400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:124168800-124170400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr8:124168800-124170400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:124168800-124170400	Active TSS	Osteobl	bone
17	chr8:124168800-124170600	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr8:124168800-124170600	Active TSS	Brain Hippocampus Middle	brain
19	chr8:124168800-124170800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr8:124168800-124170800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:124168800-124170800	Active TSS	Thymus	Thymus
22	chr8:124168800-124171000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:124168800-124171000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:124168800-124171000	Active TSS	Liver	Liver
25	chr8:124168800-124171000	Active TSS	Fetal Lung	lung
26	chr8:124168800-124171000	Active TSS	Ovary	ovary
27	chr8:124168800-124171000	Active TSS	Psoas Muscle	Psoas
28	chr8:124168800-124171000	Active TSS	Rectal Smooth Muscle	rectum
29	chr8:124168800-124171000	Active TSS	Stomach Mucosa	stomach
30	chr8:124168800-124171200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:124168800-124171400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:124168800-124171400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:124168800-124171400	Active TSS	Fetal Kidney	kidney
34	chr8:124168800-124171600	Active TSS	Brain Angular Gyrus	brain
35	chr8:124168800-124171600	Active TSS	Brain Cingulate Gyrus	brain
36	chr8:124168800-124171800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr8:124168800-124172200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:124169000-124169600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:124169000-124169600	Flanking Active TSS	Colonic Mucosa	Colon
40	chr8:124169000-124169600	Active TSS	HepG2	liver
41	chr8:124169000-124169600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr8:124169000-124169800	Transcr. at gene 5' and 3'	Right Atrium	heart
43	chr8:124169000-124170000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr8:124169000-124170200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr8:124169000-124170200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr8:124169000-124170600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:124169000-124170600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:124169000-124170600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:124169000-124170600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:124169000-124170600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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