Variant report

Variant	rs73704923
Chromosome Location	chr8:126321018-126321019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126318394..126322454-chr8:126322882..126325184,6	K562	blood:
2	chr8:126233282..126235149-chr8:126318935..126321777,2	MCF-7	breast:
3	chr8:126320818..126322361-chr8:126441952..126443721,2	K562	blood:
4	chr8:126316293..126317813-chr8:126318662..126321423,2	K562	blood:
5	chr8:126319216..126321150-chr8:126442622..126444295,2	MCF-7	breast:
6	chr8:126318103..126323029-chr8:126440904..126443721,4	K562	blood:
7	chr8:126318641..126321559-chr8:126341791..126343679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs56117234	1.00[EUR][1000 genomes]
rs56798105	1.00[EUR][1000 genomes]
rs56988673	1.00[EUR][1000 genomes]
rs57687393	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57876250	1.00[EUR][1000 genomes]
rs58217279	1.00[EUR][1000 genomes]
rs58318216	1.00[EUR][1000 genomes]
rs58818314	1.00[EUR][1000 genomes]
rs59667546	1.00[EUR][1000 genomes]
rs60051203	1.00[EUR][1000 genomes]
rs60524861	1.00[EUR][1000 genomes]
rs6983990	1.00[EUR][1000 genomes]
rs6990205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992378	1.00[EUR][1000 genomes]
rs6992389	1.00[EUR][1000 genomes]
rs7001448	1.00[EUR][1000 genomes]
rs73336865	1.00[EUR][1000 genomes]
rs73704928	1.00[EUR][1000 genomes]
rs73704930	1.00[EUR][1000 genomes]
rs73704939	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704957	1.00[EUR][1000 genomes]
rs7814242	1.00[EUR][1000 genomes]
rs7820192	1.00[EUR][1000 genomes]
rs7820336	1.00[EUR][1000 genomes]
rs7822467	1.00[EUR][1000 genomes]
rs7834583	1.00[EUR][1000 genomes]
rs7839038	1.00[EUR][1000 genomes]
rs7839468	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
2	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:126308000-126336000	Weak transcription	Psoas Muscle	Psoas
4	chr8:126313600-126321600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:126314400-126321600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:126315400-126321200	Weak transcription	Colonic Mucosa	Colon
7	chr8:126315400-126321200	Weak transcription	Lung	lung
8	chr8:126315400-126325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:126316000-126325000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:126316200-126322200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:126318400-126322600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:126318600-126354600	Weak transcription	Ovary	ovary
13	chr8:126319000-126321200	Enhancers	A549	lung
14	chr8:126319000-126322200	Enhancers	Osteobl	bone
15	chr8:126319000-126322400	Enhancers	NHDF-Ad	bronchial
16	chr8:126319200-126321200	Enhancers	Adipose Nuclei	Adipose
17	chr8:126319200-126321800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:126319200-126321800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:126319200-126322200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:126319200-126322600	Enhancers	Placenta	Placenta
21	chr8:126319400-126322000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:126319400-126322000	Enhancers	Fetal Thymus	thymus
23	chr8:126319400-126323200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:126319400-126323800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:126319400-126325200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:126319600-126322000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:126319600-126323600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:126319800-126321800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:126319800-126321800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr8:126319800-126324000	Enhancers	NHLF	lung
31	chr8:126319800-126324600	Enhancers	K562	blood
32	chr8:126320000-126321600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:126320000-126321600	Weak transcription	NH-A	brain
34	chr8:126320000-126321600	Weak transcription	NHEK	skin
35	chr8:126320000-126321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:126320000-126323400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:126320000-126328200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:126320200-126321400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:126320200-126321600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:126320200-126321800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:126320200-126322000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:126320200-126322000	Weak transcription	Primary T cells from cord blood	blood
43	chr8:126320200-126322400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:126320200-126323200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:126320200-126328800	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:126320400-126321600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:126320400-126321600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:126320400-126321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:126320400-126321600	Weak transcription	Small Intestine	intestine
50	chr8:126320400-126321800	Weak transcription	Fetal Lung	lung

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