Variant report

Variant	rs55695515
Chromosome Location	chr8:121420087-121420088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11776121	0.85[ASN][1000 genomes]
rs11778778	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11781130	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11781698	0.97[ASN][1000 genomes]
rs11786027	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11989221	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11994578	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12675851	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12678944	0.96[ASN][1000 genomes]
rs12680935	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34162236	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35511242	0.97[ASN][1000 genomes]
rs35761432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35895310	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4870728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4870730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57481340	0.99[ASN][1000 genomes]
rs59967069	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469931	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004427	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7006059	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7006363	0.98[ASN][1000 genomes]
rs7016084	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7821312	0.87[ASN][1000 genomes]
rs7825296	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826746	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835199	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7839548	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv971260	chr8:121418214-121420621	Weak transcription Strong transcription	Chromatin interactive region	n/a	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	chr8:121404400-121421400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
6	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:121407800-121424600	Weak transcription	Brain Angular Gyrus	brain
9	chr8:121407800-121442800	Weak transcription	NHEK	skin
10	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
11	chr8:121408400-121442800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:121409800-121446200	Weak transcription	Right Ventricle	heart
13	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:121410600-121423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:121410600-121423000	Weak transcription	Thymus	Thymus
17	chr8:121410600-121456600	Weak transcription	Gastric	stomach
18	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
19	chr8:121411000-121443600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:121412400-121423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:121412600-121450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:121412800-121423400	Weak transcription	Brain Anterior Caudate	brain
24	chr8:121412800-121430600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
26	chr8:121413400-121428400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:121413400-121428600	Strong transcription	Dnd41	blood
28	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:121414000-121422800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:121414400-121424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:121414600-121421400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:121414600-121432400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:121414800-121426200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:121415000-121423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:121415400-121420600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:121415800-121420600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:121415800-121421000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:121415800-121421400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:121415800-121422800	Weak transcription	Lung	lung
40	chr8:121415800-121423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:121415800-121423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:121415800-121424800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:121415800-121424800	Weak transcription	Left Ventricle	heart
44	chr8:121415800-121425600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:121415800-121436600	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:121415800-121443400	Weak transcription	Brain Germinal Matrix	brain
47	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea
48	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
49	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
50	chr8:121416000-121423400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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