Variant report

Variant	rs16893464
Chromosome Location	chr8:121061754-121061755
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10104973	0.80[LWK][hapmap];0.86[YRI][hapmap]
rs10955954	0.85[YRI][hapmap]
rs16892894	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16893456	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16893485	0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16893520	0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60560198	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61424529	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7010834	0.93[ASW][hapmap];0.86[LWK][hapmap];0.81[MKK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs73704214	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704220	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7826920	0.80[YRI][hapmap]

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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
2	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
3	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:121038400-121061800	Weak transcription	Adipose Nuclei	Adipose
5	chr8:121042000-121063400	Weak transcription	Spleen	Spleen
6	chr8:121046200-121065200	Weak transcription	Psoas Muscle	Psoas
7	chr8:121048600-121061800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:121048600-121061800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:121048800-121063600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:121048800-121063600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:121049200-121062200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:121049200-121072800	Weak transcription	Fetal Lung	lung
13	chr8:121049200-121072800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:121053600-121064000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:121053600-121067200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:121053600-121072800	Weak transcription	Brain Angular Gyrus	brain
17	chr8:121053600-121072800	Weak transcription	Brain Substantia Nigra	brain
18	chr8:121053600-121072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:121053800-121072800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:121054600-121061800	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:121054600-121061800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:121057400-121061800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:121058400-121065400	Weak transcription	Pancreas	Pancrea
24	chr8:121058400-121066200	Weak transcription	Gastric	stomach
25	chr8:121059200-121061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:121059400-121077800	Weak transcription	Fetal Stomach	stomach
27	chr8:121059600-121064600	Weak transcription	Fetal Intestine Small	intestine
28	chr8:121060000-121062600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:121060200-121062600	Enhancers	Liver	Liver
30	chr8:121060600-121063600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:121060600-121064400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:121060800-121061800	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:121060800-121061800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:121060800-121062200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:121060800-121063200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:121060800-121072800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:121061000-121061800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:121061000-121061800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:121061000-121062600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:121061000-121063000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:121061000-121063000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:121061000-121064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:121061000-121064000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:121061000-121064200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:121061000-121064600	Weak transcription	Ovary	ovary
47	chr8:121061000-121065400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:121061000-121072800	Weak transcription	Fetal Kidney	kidney
49	chr8:121061200-121061800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:121061200-121061800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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