Variant report

Variant	rs11781754
Chromosome Location	chr8:117678652-117678653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117677389..117679371-chr8:117879168..117880873,2	K562	blood:
2	chr8:117673316..117675815-chr8:117677435..117680158,2	K562	blood:
3	chr8:117670068..117671859-chr8:117677157..117679893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164754	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10089815	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10094452	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10095889	0.82[ASN][1000 genomes]
rs10104144	0.85[ASN][1000 genomes]
rs10109369	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10111411	0.83[EUR][1000 genomes]
rs10283122	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10283129	0.80[ASN][1000 genomes]
rs10505284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808483	0.82[EUR][1000 genomes]
rs10808485	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11776214	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12155774	0.83[EUR][1000 genomes]
rs12375316	0.84[AFR][1000 genomes]
rs12546186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548402	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13250873	0.80[ASN][1000 genomes]
rs13258789	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13264928	0.84[AFR][1000 genomes]
rs13266314	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13268448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1374299	0.83[ASN][1000 genomes]
rs1436767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17663673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1867841	0.82[ASN][1000 genomes]
rs2121339	0.85[ASN][1000 genomes]
rs34007155	0.80[EUR][1000 genomes]
rs4145242	0.88[ASN][1000 genomes]
rs4372028	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4449824	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4514005	0.80[ASN][1000 genomes]
rs4532623	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876365	0.81[ASN][1000 genomes]
rs4876671	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876672	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4876675	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4876680	0.80[ASN][1000 genomes]
rs6981932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983034	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6988190	0.82[ASN][1000 genomes]
rs6990665	0.83[ASN][1000 genomes]
rs6992589	0.83[ASN][1000 genomes]
rs7006087	0.80[ASN][1000 genomes]
rs7013007	0.84[ASN][1000 genomes]
rs7014156	0.83[ASN][1000 genomes]
rs7814084	0.85[ASN][1000 genomes]
rs7817878	0.82[ASN][1000 genomes]
rs7823870	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7828774	0.83[ASN][1000 genomes]
rs7843792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:117659000-117698000	Weak transcription	Hela-S3	cervix
3	chr8:117660000-117697400	Weak transcription	NHEK	skin
4	chr8:117664600-117682000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:117665800-117697400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:117666000-117699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:117667000-117699200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:117668200-117688400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:117668200-117707000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:117670200-117707000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:117670400-117689600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:117670600-117696800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:117670800-117682000	Weak transcription	K562	blood
14	chr8:117671000-117681600	Weak transcription	Left Ventricle	heart
15	chr8:117671000-117682400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:117671000-117683800	Weak transcription	Ovary	ovary
17	chr8:117671000-117693200	Weak transcription	Dnd41	blood
18	chr8:117671000-117696800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:117671000-117717600	Weak transcription	HepG2	liver
20	chr8:117671200-117681000	Weak transcription	Adipose Nuclei	Adipose
21	chr8:117671200-117682400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:117671200-117687000	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:117671200-117687400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:117671200-117688600	Weak transcription	Placenta	Placenta
25	chr8:117671200-117690000	Weak transcription	Fetal Intestine Large	intestine
26	chr8:117671400-117683400	Weak transcription	Fetal Lung	lung
27	chr8:117671400-117685800	Weak transcription	HSMM	muscle
28	chr8:117673000-117681600	Weak transcription	HUVEC	blood vessel
29	chr8:117673000-117697400	Weak transcription	NH-A	brain
30	chr8:117673600-117688800	Weak transcription	Primary B cells from cord blood	blood
31	chr8:117674800-117679000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:117674800-117706800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:117675400-117682200	Weak transcription	Aorta	Aorta
34	chr8:117675400-117682400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:117675400-117682800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:117675400-117687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:117675600-117679000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:117675600-117679800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:117675600-117689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:117675600-117697400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:117675800-117682000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:117675800-117697600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:117676000-117680800	Weak transcription	Psoas Muscle	Psoas
44	chr8:117676000-117682200	Weak transcription	Primary T cells from cord blood	blood
45	chr8:117676600-117679400	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:117677200-117679000	Enhancers	Brain Hippocampus Middle	brain
47	chr8:117677400-117699200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr8:117677600-117678800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:117677800-117679400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:117678000-117680800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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