Variant report

Variant	rs73293290
Chromosome Location	chr8:105504438-105504439
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105504212..105505135-chr8:105771631..105772165,4	K562	blood:
2	chr8:105454151..105454949-chr8:105504221..105505138,2	MCF-7	breast:
3	chr8:105337371..105338281-chr8:105504200..105504994,3	K562	blood:
4	chr8:104776641..104777197-chr8:105504360..105505105,2	MCF-7	breast:
5	chr8:104776370..104777203-chr8:105504141..105505133,3	K562	blood:
6	chr8:104776210..104777349-chr8:105503586..105504992,8	MCF-7	breast:
7	chr8:104808701..104809570-chr8:105504240..105505101,3	MCF-7	breast:
8	chr8:105487780..105488639-chr8:105504399..105505102,3	MCF-7	breast:

No data

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs35163714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4427139	1.00[AMR][1000 genomes]
rs57061880	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57149580	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59042845	1.00[AMR][1000 genomes]
rs59429525	1.00[AMR][1000 genomes]
rs60616186	1.00[AMR][1000 genomes]
rs61129183	0.81[AFR][1000 genomes]
rs61148214	1.00[AMR][1000 genomes]
rs61360760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293276	0.96[AFR][1000 genomes]
rs73293278	0.90[AFR][1000 genomes]
rs73293292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295103	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295108	0.81[AFR][1000 genomes]
rs73295113	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295133	0.81[AFR][1000 genomes]
rs73295148	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295155	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295157	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295168	1.00[AMR][1000 genomes]
rs73295174	1.00[AMR][1000 genomes]
rs73295188	1.00[AMR][1000 genomes]
rs73297103	1.00[AMR][1000 genomes]
rs73297116	1.00[AMR][1000 genomes]
rs73297130	1.00[AMR][1000 genomes]
rs73297134	1.00[AMR][1000 genomes]
rs73297137	1.00[AMR][1000 genomes]
rs73297149	1.00[AMR][1000 genomes]
rs7812405	0.81[AFR][1000 genomes]
rs7813481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7832864	0.93[AFR][1000 genomes];1.00[AMR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105489400-105512800	Weak transcription	Gastric	stomach
2	chr8:105491400-105510000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:105491400-105517200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:105492200-105505800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:105495400-105507200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:105495600-105509200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
8	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:105500800-105519800	Strong transcription	Dnd41	blood
10	chr8:105501000-105509200	Weak transcription	Lung	lung
11	chr8:105501200-105509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:105501400-105504800	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:105501400-105505800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:105501400-105509200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:105501400-105509400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:105501400-105509600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:105501400-105515000	Weak transcription	Spleen	Spleen
18	chr8:105501400-105516200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:105501400-105517400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:105501400-105517400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:105501600-105504600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:105501600-105504800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:105501600-105509200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:105501600-105509200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:105501600-105509400	Weak transcription	HMEC	breast
26	chr8:105501600-105512200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:105501600-105520800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:105501800-105505600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:105501800-105509200	Weak transcription	NHLF	lung
30	chr8:105501800-105518800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:105501800-105521000	Weak transcription	NHEK	skin
32	chr8:105502000-105510800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:105502000-105518400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:105502200-105504600	Weak transcription	Brain Angular Gyrus	brain
35	chr8:105502200-105509400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:105502800-105505200	Strong transcription	Osteobl	bone
37	chr8:105503000-105505400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:105503200-105511200	Weak transcription	Esophagus	oesophagus
39	chr8:105503400-105504600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:105503400-105504800	Weak transcription	Brain Anterior Caudate	brain
41	chr8:105503400-105505800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:105503400-105505800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:105503400-105509400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:105503400-105509800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:105503600-105504600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:105503600-105504800	Weak transcription	K562	blood
47	chr8:105503600-105505200	Weak transcription	Fetal Heart	heart
48	chr8:105503600-105505600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:105503600-105505600	Weak transcription	Thymus	Thymus
50	chr8:105503600-105505800	Weak transcription	Brain Germinal Matrix	brain

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