Variant report

Variant	rs73345837
Chromosome Location	chr8:125705007-125705008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125699774..125701577-chr8:125704384..125706753,2	K562	blood:
2	chr8:125549825..125551523-chr8:125704908..125707139,2	MCF-7	breast:
3	chr8:125703204..125704827-chr8:125704961..125706579,2	MCF-7	breast:
4	chr8:125703672..125706290-chr8:125714899..125717654,2	MCF-7	breast:
5	chr8:125703076..125705336-chr8:125860623..125862726,2	K562	blood:
6	chr8:125697915..125700956-chr8:125703472..125706654,3	K562	blood:
7	chr8:125704431..125707211-chr8:125707702..125710134,3	K562	blood:

Variant related genes	Relation type
ENSG00000249816	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10505444	1.00[EUR][1000 genomes]
rs56350078	1.00[EUR][1000 genomes]
rs57679308	1.00[EUR][1000 genomes]
rs57692957	1.00[EUR][1000 genomes]
rs58327286	1.00[EUR][1000 genomes]
rs73345821	1.00[EUR][1000 genomes]
rs73345871	1.00[EUR][1000 genomes]
rs73345875	1.00[EUR][1000 genomes]
rs73345878	1.00[EUR][1000 genomes]
rs73345889	1.00[EUR][1000 genomes]
rs73345891	1.00[EUR][1000 genomes]
rs73707003	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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	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
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125700600-125705800	Enhancers	HepG2	liver
2	chr8:125701000-125721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:125701200-125706000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:125701200-125706400	Weak transcription	HUVEC	blood vessel
5	chr8:125701400-125711400	Weak transcription	HSMMtube	muscle
6	chr8:125701600-125706200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:125701600-125713200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:125701600-125713800	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:125701600-125717000	Weak transcription	Thymus	Thymus
10	chr8:125701800-125713400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:125701800-125714800	Weak transcription	NHEK	skin
12	chr8:125702000-125712200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:125702600-125710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:125702600-125711000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:125702600-125711600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:125702600-125711600	Weak transcription	Right Ventricle	heart
17	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:125702800-125705800	Weak transcription	Primary T cells from cord blood	blood
19	chr8:125702800-125707400	Weak transcription	Fetal Heart	heart
20	chr8:125702800-125711200	Weak transcription	Placenta	Placenta
21	chr8:125702800-125711600	Weak transcription	Psoas Muscle	Psoas
22	chr8:125702800-125714800	Weak transcription	Fetal Kidney	kidney
23	chr8:125702800-125721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:125702800-125721400	Weak transcription	Fetal Lung	lung
25	chr8:125703000-125705400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:125703000-125705600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:125703000-125709000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:125703000-125711000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:125703000-125711000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:125703000-125711200	Weak transcription	Osteobl	bone
31	chr8:125703000-125711400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:125703000-125711400	Weak transcription	Right Atrium	heart
33	chr8:125703000-125711400	Weak transcription	NHDF-Ad	bronchial
34	chr8:125703000-125711600	Weak transcription	NHLF	lung
35	chr8:125703000-125711800	Weak transcription	Brain Anterior Caudate	brain
36	chr8:125703000-125720600	Weak transcription	Fetal Thymus	thymus
37	chr8:125703400-125706400	Weak transcription	Brain Substantia Nigra	brain
38	chr8:125703400-125711200	Weak transcription	Fetal Brain Male	brain
39	chr8:125703400-125712600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:125703600-125705200	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:125703600-125706400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:125703600-125711600	Weak transcription	Brain Angular Gyrus	brain
43	chr8:125704200-125705600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:125704200-125705800	Genic enhancers	Fetal Intestine Small	intestine
45	chr8:125704200-125706000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr8:125704200-125707800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr8:125704400-125705400	Flanking Active TSS	Liver	Liver
48	chr8:125704400-125705600	Enhancers	Pancreas	Pancrea
49	chr8:125704400-125707800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:125704400-125710000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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