Variant report

Variant	rs717349
Chromosome Location	chr8:118534875-118534876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10505295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505315	0.86[ASN][1000 genomes]
rs11990107	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992669	1.00[JPT][hapmap]
rs11997337	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16889836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16889862	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16889867	0.86[EUR][1000 genomes]
rs17667915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17668001	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17668076	0.86[ASN][1000 genomes]
rs17668088	0.86[ASN][1000 genomes]
rs17740505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28571816	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3937768	0.84[ASN][1000 genomes]
rs62521183	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62521198	0.87[EUR][1000 genomes]
rs62521200	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62521203	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521228	0.83[ASN][1000 genomes]
rs62521229	0.83[ASN][1000 genomes]
rs62521231	0.86[ASN][1000 genomes]
rs749492	0.86[ASN][1000 genomes]
rs755982	0.86[ASN][1000 genomes]
rs922587	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428525	chr8:118384428-118543349	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv831436	chr8:118384463-118543297	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118532200-118535200	Active TSS	K562	blood
2	chr8:118532400-118535400	Active TSS	GM12878-XiMat	blood
3	chr8:118533600-118537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:118533600-118537400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:118533600-118537600	Weak transcription	Lung	lung
6	chr8:118533600-118537800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:118533600-118541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:118533600-118543200	Weak transcription	Placenta	Placenta
9	chr8:118533600-118545800	Weak transcription	Esophagus	oesophagus
10	chr8:118533600-118546000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:118533600-118546000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:118533600-118546400	Weak transcription	Gastric	stomach
13	chr8:118533600-118546400	Weak transcription	Pancreas	Pancrea
14	chr8:118533600-118546400	Weak transcription	Spleen	Spleen
15	chr8:118533800-118535400	Flanking Active TSS	Dnd41	blood
16	chr8:118533800-118541400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:118533800-118541600	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:118533800-118543400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:118533800-118545600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:118533800-118545800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:118533800-118546400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:118533800-118553800	Weak transcription	Stomach Mucosa	stomach
23	chr8:118534000-118535000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:118534000-118535600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:118534000-118541600	Weak transcription	Ovary	ovary
26	chr8:118534000-118541800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:118534000-118541800	Weak transcription	Left Ventricle	heart
28	chr8:118534000-118542000	Weak transcription	HSMM	muscle
29	chr8:118534200-118535000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:118534200-118535000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr8:118534200-118535400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:118534200-118535400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr8:118534200-118535600	Weak transcription	Fetal Stomach	stomach
34	chr8:118534200-118535600	Weak transcription	Fetal Thymus	thymus
35	chr8:118534200-118536200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:118534200-118538000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:118534200-118541600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:118534200-118543000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:118534200-118543200	Weak transcription	Brain Germinal Matrix	brain
40	chr8:118534200-118545600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:118534200-118545600	Weak transcription	Colonic Mucosa	Colon
42	chr8:118534200-118545800	Weak transcription	Right Ventricle	heart
43	chr8:118534200-118546000	Weak transcription	HSMMtube	muscle
44	chr8:118534200-118546000	Weak transcription	NH-A	brain
45	chr8:118534400-118535200	Enhancers	Hela-S3	cervix
46	chr8:118534400-118535400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:118534400-118535600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:118534400-118535600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:118534400-118535600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:118534400-118535600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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