Variant report

Variant	rs4871822
Chromosome Location	chr8:121004664-121004665
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10110144	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051534	0.80[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap]
rs10955946	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10955947	0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11779963	0.88[ASN][1000 genomes]
rs11787175	0.82[CHD][hapmap];0.83[MEX][hapmap]
rs11787250	0.82[CHD][hapmap];0.83[MEX][hapmap]
rs11984766	0.83[MEX][hapmap]
rs11986202	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11995866	0.80[CEU][hapmap]
rs12680396	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13266382	0.83[AMR][1000 genomes]
rs13272368	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1356748	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1914992	0.81[JPT][hapmap]
rs2139434	0.84[AMR][1000 genomes]
rs2139435	0.89[ASN][1000 genomes]
rs2139436	0.89[ASN][1000 genomes]
rs2139437	0.81[ASN][1000 genomes]
rs2326429	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28650977	0.86[AMR][1000 genomes]
rs2875929	0.81[JPT][hapmap]
rs4053282	0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4398969	0.89[ASN][1000 genomes]
rs4584180	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870969	0.87[ASN][1000 genomes]
rs4870970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871719	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871819	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4871821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871823	0.85[ASN][1000 genomes]
rs4871824	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4871827	0.84[CHD][hapmap];0.83[MEX][hapmap]
rs58564644	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60657932	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62528700	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469889	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6469890	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs6997067	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833689	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7836124	0.82[EUR][1000 genomes]
rs7836786	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs9642847	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9643139	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9643140	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4871822	ATAD2	cis	parietal	SCAN
rs4871822	DSCC1	cis	cerebellum	SCAN
rs4871822	DSCC1	cis	parietal	SCAN
rs4871822	DEPDC6	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120978000-121013600	Weak transcription	Gastric	stomach
2	chr8:120991200-121013400	Weak transcription	Fetal Stomach	stomach
3	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:120995800-121013800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:121000600-121019600	Weak transcription	Left Ventricle	heart
6	chr8:121001800-121015600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:121001800-121021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:121002200-121005200	Enhancers	Psoas Muscle	Psoas
9	chr8:121002600-121004800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:121002600-121005600	Enhancers	Adipose Nuclei	Adipose
11	chr8:121002600-121006000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:121002800-121006000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:121003200-121006600	Enhancers	Rectal Smooth Muscle	rectum
14	chr8:121003200-121015200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:121003200-121015200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:121003400-121005000	Enhancers	Ovary	ovary
17	chr8:121003400-121005400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:121003600-121013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:121003600-121013400	Weak transcription	Fetal Intestine Small	intestine
20	chr8:121003600-121013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:121003600-121015200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:121003800-121007000	Enhancers	Colon Smooth Muscle	Colon
23	chr8:121003800-121013400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:121003800-121014800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:121003800-121015200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:121004000-121013800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:121004000-121017600	Weak transcription	Right Atrium	heart
28	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
29	chr8:121004400-121004800	Enhancers	Fetal Kidney	kidney
30	chr8:121004400-121004800	Enhancers	Osteobl	bone
31	chr8:121004400-121005200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:121004400-121005400	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:121004400-121005400	Weak transcription	Brain Substantia Nigra	brain
34	chr8:121004600-121005000	Weak transcription	Spleen	Spleen
35	chr8:121004600-121005400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:121004600-121005600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:121004600-121013400	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:121004600-121013600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:121004600-121015200	Weak transcription	Brain Anterior Caudate	brain
40	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain

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