Variant report

Variant	rs4871099
Chromosome Location	chr8:121713417-121713418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11995748	0.93[YRI][hapmap]
rs12156405	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871100	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989032	1.00[YRI][hapmap]
rs6989253	1.00[YRI][hapmap]
rs7845925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643148	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4871099	DSCC1	cis	cerebellum	SCAN
rs4871099	WDR67	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
2	chr8:121685400-121714400	Weak transcription	Pancreas	Pancrea
3	chr8:121685600-121714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:121697800-121713600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:121697800-121714400	Weak transcription	Placenta	Placenta
6	chr8:121699800-121714200	Weak transcription	Fetal Thymus	thymus
7	chr8:121703000-121714200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:121704000-121714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:121704800-121714400	Weak transcription	Psoas Muscle	Psoas
10	chr8:121705200-121715800	Weak transcription	Brain Substantia Nigra	brain
11	chr8:121705400-121715400	Weak transcription	Fetal Kidney	kidney
12	chr8:121706000-121715600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:121706000-121718400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:121706000-121719000	Weak transcription	HSMM	muscle
15	chr8:121706200-121713600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:121706200-121713600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:121706200-121714200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:121706200-121714400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:121706200-121714400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:121706200-121714400	Weak transcription	Gastric	stomach
21	chr8:121706200-121714400	Weak transcription	Lung	lung
22	chr8:121706200-121714600	Weak transcription	Fetal Stomach	stomach
23	chr8:121706200-121717800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:121706200-121718800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:121706200-121718800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr8:121706200-121719000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:121709200-121715800	Weak transcription	Small Intestine	intestine
28	chr8:121711600-121718800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:121711600-121722800	Weak transcription	Aorta	Aorta
30	chr8:121711800-121714200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:121711800-121714200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:121712000-121714200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:121712000-121714600	Weak transcription	Primary B cells from cord blood	blood
34	chr8:121712000-121716200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:121712200-121713800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:121712200-121715800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:121712400-121713600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:121712400-121713800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:121712600-121713600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:121712600-121714800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:121712600-121714800	Enhancers	Adipose Nuclei	Adipose
42	chr8:121712600-121716000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:121712800-121713800	Enhancers	NHDF-Ad	bronchial
44	chr8:121712800-121714200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:121712800-121714200	Weak transcription	HepG2	liver
46	chr8:121712800-121714600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr8:121712800-121716000	Weak transcription	Brain Anterior Caudate	brain
48	chr8:121712800-121724400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:121713000-121714200	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:121713000-121714400	Weak transcription	Brain Germinal Matrix	brain

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