Variant report

Variant	rs2166923
Chromosome Location	chr8:59773815-59773816
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	chr8:59768252..59769801-chr8:59771211..59773823,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10092016	1.00[CEU][hapmap]
rs10504276	1.00[CEU][hapmap]
rs11995430	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998693	1.00[CEU][hapmap]
rs16918743	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16924012	1.00[CEU][hapmap]
rs16924088	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16924147	1.00[CEU][hapmap]
rs16924330	1.00[CEU][hapmap]
rs16924342	1.00[CEU][hapmap]
rs16924346	1.00[CEU][hapmap]
rs16924369	1.00[CEU][hapmap]
rs16924484	1.00[CEU][hapmap]
rs41468545	1.00[CEU][hapmap]
rs7821556	1.00[CEU][hapmap]
rs7844006	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9643507	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59758400-59777400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:59761000-59777200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:59764200-59777600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:59764200-59806400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:59770400-59774600	Strong transcription	Primary T cells from cord blood	blood
6	chr8:59771200-59774600	Enhancers	Osteobl	bone
7	chr8:59771200-59777200	Weak transcription	Aorta	Aorta
8	chr8:59771200-59777200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:59771400-59774200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:59771400-59774400	Enhancers	NHDF-Ad	bronchial
11	chr8:59771400-59775200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:59771400-59775400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:59771400-59776400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:59771400-59776400	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:59771400-59776800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:59771400-59777000	Weak transcription	Brain Anterior Caudate	brain
17	chr8:59771400-59777200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:59771400-59777200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:59771400-59777200	Weak transcription	Brain Angular Gyrus	brain
20	chr8:59771400-59777200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:59771400-59777200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:59771400-59777200	Weak transcription	Fetal Lung	lung
23	chr8:59771400-59777400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:59771400-59777600	Weak transcription	Gastric	stomach
25	chr8:59771400-59811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:59771600-59776000	Weak transcription	Brain Germinal Matrix	brain
27	chr8:59771600-59777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:59771600-59777000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:59771600-59794000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:59771800-59774200	Strong transcription	Fetal Thymus	thymus
31	chr8:59772400-59777000	Weak transcription	HUVEC	blood vessel
32	chr8:59772600-59794400	Weak transcription	Small Intestine	intestine
33	chr8:59773000-59774000	Enhancers	Fetal Intestine Large	intestine
34	chr8:59773000-59774200	Enhancers	Fetal Stomach	stomach
35	chr8:59773200-59774600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr8:59773200-59777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:59773400-59774000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:59773400-59777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:59773400-59777200	Weak transcription	HSMMtube	muscle
40	chr8:59773400-59808200	Weak transcription	Thymus	Thymus
41	chr8:59773600-59774000	Enhancers	Primary hematopoietic stem cells	blood
42	chr8:59773600-59774000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:59773600-59774000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:59773600-59774400	Enhancers	Fetal Kidney	kidney
45	chr8:59773600-59774600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:59773600-59777000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:59773800-59774000	Enhancers	A549	lung
48	chr8:59773800-59774800	Enhancers	Duodenum Mucosa	Duodenum
49	chr8:59773800-59777200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:59773800-59777200	Weak transcription	HSMM	muscle

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