Variant report

Variant	rs72678264
Chromosome Location	chr8:121425143-121425144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10088602	1.00[EUR][1000 genomes]
rs10096885	0.84[EUR][1000 genomes]
rs10101508	1.00[EUR][1000 genomes]
rs10105605	0.84[EUR][1000 genomes]
rs12335140	1.00[EUR][1000 genomes]
rs28569084	0.96[EUR][1000 genomes]
rs4469499	1.00[EUR][1000 genomes]
rs4538928	0.92[EUR][1000 genomes]
rs57952976	1.00[EUR][1000 genomes]
rs58477355	1.00[EUR][1000 genomes]
rs61538039	1.00[EUR][1000 genomes]
rs61753755	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66653049	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66711862	0.84[EUR][1000 genomes]
rs72678248	0.84[EUR][1000 genomes]
rs72678254	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72678255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72678268	1.00[EUR][1000 genomes]
rs72680535	0.84[EUR][1000 genomes]
rs73315147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9297618	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:119 , 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	chr8:121407800-121442800	Weak transcription	NHEK	skin
8	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
9	chr8:121408400-121442800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:121409800-121446200	Weak transcription	Right Ventricle	heart
11	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:121410600-121456600	Weak transcription	Gastric	stomach
14	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
15	chr8:121411000-121443600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:121412600-121450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:121412800-121430600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
20	chr8:121413400-121428400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:121413400-121428600	Strong transcription	Dnd41	blood
22	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:121414600-121432400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:121414800-121426200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr8:121415800-121425600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:121415800-121436600	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:121415800-121443400	Weak transcription	Brain Germinal Matrix	brain
28	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea
29	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
30	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
31	chr8:121417000-121435000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:121417000-121455800	Weak transcription	NHLF	lung
33	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain
34	chr8:121417000-121456400	Weak transcription	Fetal Kidney	kidney
35	chr8:121417200-121426400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:121417200-121450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:121417200-121456000	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:121417200-121456000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:121417400-121454200	Weak transcription	HSMMtube	muscle
40	chr8:121417400-121455800	Weak transcription	Aorta	Aorta
41	chr8:121417400-121455800	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:121417600-121427000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:121417800-121428800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:121417800-121440200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:121417800-121440800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:121417800-121450200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:121417800-121451000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:121417800-121456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:121418000-121441000	Weak transcription	Fetal Lung	lung
50	chr8:121418000-121450400	Weak transcription	A549	lung

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