Variant report

Variant	rs10808510
Chromosome Location	chr8:121454552-121454553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10098378	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1129993	1.00[MEX][hapmap]
rs11775273	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12674802	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16893983	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4269581	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4311691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4392947	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4442180	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4567082	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4870729	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871061	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56074613	0.93[AFR][1000 genomes]
rs6999683	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838344	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9297617	1.00[CEU][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 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	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
3	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:121410600-121456600	Weak transcription	Gastric	stomach
8	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
9	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
11	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
13	chr8:121417000-121455800	Weak transcription	NHLF	lung
14	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain
15	chr8:121417000-121456400	Weak transcription	Fetal Kidney	kidney
16	chr8:121417200-121456000	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:121417200-121456000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:121417400-121455800	Weak transcription	Aorta	Aorta
19	chr8:121417400-121455800	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:121417800-121456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:121423600-121455800	Weak transcription	Thymus	Thymus
22	chr8:121423600-121456000	Weak transcription	Fetal Intestine Small	intestine
23	chr8:121423600-121456000	Weak transcription	Ovary	ovary
24	chr8:121423600-121456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:121423600-121456400	Weak transcription	Lung	lung
26	chr8:121423800-121456000	Weak transcription	Fetal Stomach	stomach
27	chr8:121424800-121456000	Weak transcription	Brain Anterior Caudate	brain
28	chr8:121425000-121455200	Weak transcription	Brain Angular Gyrus	brain
29	chr8:121425200-121456200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:121426200-121455800	Weak transcription	Fetal Heart	heart
31	chr8:121437000-121456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:121439200-121455600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:121441200-121455800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:121443200-121455200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:121443200-121456000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:121443600-121456000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:121444400-121456000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:121446800-121455400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:121447600-121456400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:121447800-121455200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:121447800-121455200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:121447800-121455400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:121447800-121455400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:121447800-121455400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:121448000-121454800	Strong transcription	Dnd41	blood
46	chr8:121448000-121455400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:121448400-121455400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:121448400-121455400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:121448600-121455200	Strong transcription	Placenta	Placenta
50	chr8:121448600-121455200	Strong transcription	Hela-S3	cervix

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