Variant report

Variant	rs67711814
Chromosome Location	chr8:9559839-9559840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9544687..9547010-chr8:9559104..9561532,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10094989	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10099122	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10102170	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10104032	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10106040	0.88[EUR][1000 genomes]
rs10111376	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10903317	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11249939	0.86[ASN][1000 genomes]
rs11776236	0.80[AMR][1000 genomes]
rs11778555	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11782886	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11785458	0.84[EUR][1000 genomes]
rs11785923	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12114661	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12155819	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12542457	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12542912	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12544371	0.80[AMR][1000 genomes]
rs12547642	0.84[EUR][1000 genomes]
rs12677507	0.83[EUR][1000 genomes]
rs12679956	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12682175	0.83[EUR][1000 genomes]
rs13250951	0.80[AMR][1000 genomes]
rs13264850	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13272424	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13276086	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1394	0.84[EUR][1000 genomes]
rs33994795	0.84[EUR][1000 genomes]
rs35316422	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35874762	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4129360	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4313162	0.80[AMR][1000 genomes]
rs4422774	0.85[EUR][1000 genomes]
rs4612345	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4840437	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4841196	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4841203	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4841204	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6601340	0.84[EUR][1000 genomes]
rs6601350	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6982148	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6992666	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6994574	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7001832	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7003791	0.80[AMR][1000 genomes]
rs7006985	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7014663	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7461939	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7462070	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7822700	0.86[ASN][1000 genomes]
rs7846399	0.84[EUR][1000 genomes]
rs9644704	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9644707	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9650639	0.80[AMR][1000 genomes]
rs9657509	0.85[EUR][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3374574	chr8:9559683-9560257	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9510400-9563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:9511000-9564200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:9513200-9564200	Weak transcription	Ovary	ovary
4	chr8:9513200-9567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:9513800-9563600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
8	chr8:9531200-9564000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:9534800-9563600	Weak transcription	HepG2	liver
10	chr8:9535000-9564800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:9535000-9608000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:9535400-9560800	Weak transcription	HMEC	breast
13	chr8:9535400-9563800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:9536400-9563400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:9537400-9563600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:9537600-9592400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:9540000-9565400	Weak transcription	Fetal Kidney	kidney
18	chr8:9541400-9592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:9541600-9563600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:9542200-9606800	Weak transcription	Small Intestine	intestine
21	chr8:9543000-9592200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:9543400-9606400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:9543800-9563800	Weak transcription	Fetal Stomach	stomach
24	chr8:9543800-9564200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:9543800-9564200	Weak transcription	NH-A	brain
26	chr8:9544000-9562800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:9544000-9562800	Weak transcription	Left Ventricle	heart
28	chr8:9544000-9586200	Weak transcription	Thymus	Thymus
29	chr8:9544000-9592400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:9544000-9592400	Weak transcription	Psoas Muscle	Psoas
31	chr8:9544200-9571200	Weak transcription	Aorta	Aorta
32	chr8:9545400-9560600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:9545400-9564400	Weak transcription	HSMM	muscle
34	chr8:9545600-9560600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:9545600-9562000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:9545600-9563600	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:9545600-9564200	Weak transcription	Osteobl	bone
38	chr8:9545600-9564400	Weak transcription	Fetal Thymus	thymus
39	chr8:9545600-9568600	Weak transcription	HSMMtube	muscle
40	chr8:9545600-9592400	Weak transcription	Brain Angular Gyrus	brain
41	chr8:9545800-9562800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:9546200-9564200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:9546600-9560400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:9546600-9563800	Weak transcription	Fetal Intestine Small	intestine
45	chr8:9548000-9562200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:9548000-9570600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:9548200-9563800	Weak transcription	Placenta	Placenta
48	chr8:9548400-9584400	Weak transcription	Hela-S3	cervix
49	chr8:9548600-9563600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:9548600-9564400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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