Variant report

Variant	rs73293292
Chromosome Location	chr8:105507127-105507128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
rs73293290	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:96 , 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	chr8:105495400-105507200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:105495600-105509200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
7	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:105500800-105519800	Strong transcription	Dnd41	blood
9	chr8:105501000-105509200	Weak transcription	Lung	lung
10	chr8:105501200-105509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:105501400-105509200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:105501400-105509400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:105501400-105509600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:105501400-105515000	Weak transcription	Spleen	Spleen
15	chr8:105501400-105516200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:105501400-105517400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:105501400-105517400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:105501600-105509200	Weak transcription	Brain Substantia Nigra	brain
19	chr8:105501600-105509200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:105501600-105509400	Weak transcription	HMEC	breast
21	chr8:105501600-105512200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:105501600-105520800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:105501800-105509200	Weak transcription	NHLF	lung
24	chr8:105501800-105518800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:105501800-105521000	Weak transcription	NHEK	skin
26	chr8:105502000-105510800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:105502000-105518400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:105502200-105509400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:105503200-105511200	Weak transcription	Esophagus	oesophagus
30	chr8:105503400-105509400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:105503400-105509800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:105503600-105509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:105503600-105509000	Weak transcription	HSMM	muscle
34	chr8:105503600-105509200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:105503600-105509200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:105503600-105509200	Weak transcription	Primary T cells from cord blood	blood
37	chr8:105503600-105509200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:105503600-105509200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:105503600-105509200	Weak transcription	Adipose Nuclei	Adipose
40	chr8:105503600-105509200	Weak transcription	Fetal Brain Male	brain
41	chr8:105503600-105509200	Weak transcription	Fetal Intestine Large	intestine
42	chr8:105503600-105509200	Weak transcription	Fetal Kidney	kidney
43	chr8:105503600-105509200	Weak transcription	Fetal Lung	lung
44	chr8:105503600-105509200	Weak transcription	Ovary	ovary
45	chr8:105503600-105509400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:105503600-105509600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:105503600-105519000	Weak transcription	Fetal Intestine Small	intestine
48	chr8:105503600-105520800	Weak transcription	Pancreas	Pancrea
49	chr8:105503600-105525800	Weak transcription	HUVEC	blood vessel
50	chr8:105503800-105508600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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