Variant report

Variant	rs61538039
Chromosome Location	chr8:121421640-121421641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121420399..121421994-chr8:121434767..121437184,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10088602	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10096885	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10101508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105605	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12335140	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28569084	0.96[EUR][1000 genomes]
rs4469499	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4538928	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs57952976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58477355	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61753755	1.00[EUR][1000 genomes]
rs66653049	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs66711862	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72678248	0.84[EUR][1000 genomes]
rs72678254	0.92[EUR][1000 genomes]
rs72678255	1.00[EUR][1000 genomes]
rs72678264	1.00[EUR][1000 genomes]
rs72678268	1.00[EUR][1000 genomes]
rs72680535	0.84[EUR][1000 genomes]
rs73315147	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9297618	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
2	chr8:121404000-121433400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
5	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:121407800-121424600	Weak transcription	Brain Angular Gyrus	brain
8	chr8:121407800-121442800	Weak transcription	NHEK	skin
9	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
10	chr8:121408400-121442800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:121409800-121446200	Weak transcription	Right Ventricle	heart
12	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:121410600-121423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:121410600-121423000	Weak transcription	Thymus	Thymus
16	chr8:121410600-121456600	Weak transcription	Gastric	stomach
17	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
18	chr8:121411000-121443600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:121412400-121423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:121412600-121450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:121412800-121423400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:121412800-121430600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
25	chr8:121413400-121428400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:121413400-121428600	Strong transcription	Dnd41	blood
27	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:121414000-121422800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:121414400-121424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:121414600-121432400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr8:121414800-121426200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr8:121415000-121423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:121415800-121422800	Weak transcription	Lung	lung
34	chr8:121415800-121423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:121415800-121423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:121415800-121424800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:121415800-121424800	Weak transcription	Left Ventricle	heart
38	chr8:121415800-121425600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:121415800-121436600	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:121415800-121443400	Weak transcription	Brain Germinal Matrix	brain
41	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea
42	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
43	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
44	chr8:121416000-121423400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:121417000-121423400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr8:121417000-121424600	Weak transcription	HUVEC	blood vessel
47	chr8:121417000-121424800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:121417000-121435000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:121417000-121455800	Weak transcription	NHLF	lung
50	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain

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