Variant report

Variant	rs73345821
Chromosome Location	chr8:125700265-125700266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125653538..125655457-chr8:125699736..125702279,2	K562	blood:
2	chr8:125699774..125701577-chr8:125704384..125706753,2	K562	blood:
3	chr8:125692471..125696543-chr8:125697551..125702907,8	MCF-7	breast:
4	chr8:125691541..125693410-chr8:125699337..125702160,2	K562	blood:
5	chr8:125700027..125702376-chr8:125709128..125711425,2	K562	blood:
6	chr8:125697915..125700956-chr8:125703472..125706654,3	K562	blood:

Extended variants
information (count: 17 )
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]
rs73345837	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:5 , 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
5	esv3371789	chr8:125698371-125702569	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125681200-125701000	Weak transcription	HMEC	breast
2	chr8:125694200-125701400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr8:125694400-125703000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:125694600-125701600	Enhancers	Fetal Stomach	stomach
5	chr8:125695000-125702200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:125695000-125704800	Weak transcription	Gastric	stomach
7	chr8:125695200-125700400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:125696200-125700400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:125696200-125705000	Weak transcription	Esophagus	oesophagus
10	chr8:125696600-125700600	Weak transcription	NHEK	skin
11	chr8:125696800-125702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:125696800-125702800	Enhancers	Fetal Heart	heart
13	chr8:125697000-125700400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:125697000-125701000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:125697200-125700400	Enhancers	Fetal Brain Male	brain
16	chr8:125697200-125701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:125697600-125700400	Enhancers	Left Ventricle	heart
18	chr8:125697600-125700400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:125697600-125701200	Enhancers	HUVEC	blood vessel
20	chr8:125697600-125703000	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:125697600-125703000	Enhancers	Fetal Muscle Leg	muscle
22	chr8:125697800-125700800	Enhancers	Right Atrium	heart
23	chr8:125697800-125704000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:125698000-125700400	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:125698000-125700600	Enhancers	Pancreas	Pancrea
26	chr8:125698000-125701000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:125698200-125700400	Enhancers	NHDF-Ad	bronchial
28	chr8:125698200-125700600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:125698200-125701000	Enhancers	Adipose Nuclei	Adipose
30	chr8:125698200-125701400	Enhancers	Placenta	Placenta
31	chr8:125698200-125703000	Enhancers	Fetal Thymus	thymus
32	chr8:125698400-125701200	Enhancers	Spleen	Spleen
33	chr8:125698600-125700400	Enhancers	Fetal Kidney	kidney
34	chr8:125699000-125700600	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:125699000-125700800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:125699000-125701000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:125699000-125701400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:125699000-125702600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:125699200-125700400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:125699200-125700600	Enhancers	Right Ventricle	heart
41	chr8:125699200-125700800	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr8:125699200-125701000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:125699200-125701000	Enhancers	Fetal Intestine Small	intestine
44	chr8:125699200-125701800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:125699200-125703000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr8:125699400-125700400	Enhancers	Psoas Muscle	Psoas
47	chr8:125699400-125700400	Enhancers	NHLF	lung
48	chr8:125699400-125700600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:125699400-125700600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr8:125699400-125700600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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