Variant report

Variant	rs4427141
Chromosome Location	chr8:103331077-103331078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505028	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16869377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16869423	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2293983	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3736653	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62523061	0.84[ASN][1000 genomes]
rs62523093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523097	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62523098	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62523142	0.84[EUR][1000 genomes]
rs62524305	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72606689	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103300200-103342800	Weak transcription	Stomach Mucosa	stomach
2	chr8:103300200-103343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:103300600-103331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:103308000-103338200	Weak transcription	Gastric	stomach
5	chr8:103318200-103338200	Weak transcription	Aorta	Aorta
6	chr8:103319400-103343400	Weak transcription	Small Intestine	intestine
7	chr8:103323600-103338200	Weak transcription	Brain Angular Gyrus	brain
8	chr8:103323800-103338400	Weak transcription	Pancreas	Pancrea
9	chr8:103324200-103339200	Weak transcription	Fetal Kidney	kidney
10	chr8:103324600-103343600	Weak transcription	Fetal Brain Male	brain
11	chr8:103324800-103335600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:103324800-103338200	Weak transcription	Spleen	Spleen
13	chr8:103325000-103335400	Weak transcription	Fetal Heart	heart
14	chr8:103325400-103338400	Weak transcription	Colonic Mucosa	Colon
15	chr8:103325400-103338400	Weak transcription	Psoas Muscle	Psoas
16	chr8:103325600-103338200	Weak transcription	Ovary	ovary
17	chr8:103325600-103358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:103325800-103338200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:103326000-103335400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:103326000-103335400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:103326000-103336600	Weak transcription	NHDF-Ad	bronchial
22	chr8:103326000-103354000	Weak transcription	Lung	lung
23	chr8:103326200-103335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:103326200-103335400	Weak transcription	Brain Anterior Caudate	brain
25	chr8:103326200-103336600	Weak transcription	Primary T cells from cord blood	blood
26	chr8:103326200-103337000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:103326200-103337000	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:103326200-103337000	Weak transcription	NHLF	lung
29	chr8:103326200-103337200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:103326200-103338000	Weak transcription	HSMMtube	muscle
31	chr8:103326200-103338200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:103326200-103338200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:103326200-103338400	Weak transcription	Right Ventricle	heart
34	chr8:103326200-103339000	Weak transcription	Brain Germinal Matrix	brain
35	chr8:103326400-103335400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:103326400-103335400	Weak transcription	Fetal Brain Female	brain
37	chr8:103326400-103335400	Weak transcription	Fetal Lung	lung
38	chr8:103326400-103335400	Weak transcription	Left Ventricle	heart
39	chr8:103326400-103335400	Weak transcription	A549	lung
40	chr8:103326400-103335400	Weak transcription	HepG2	liver
41	chr8:103326400-103336600	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:103326400-103337000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:103326400-103337600	Weak transcription	NHEK	skin
44	chr8:103326800-103335400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:103326800-103335400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:103326800-103335400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:103326800-103338200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:103326800-103338200	Weak transcription	Brain Substantia Nigra	brain
49	chr8:103326800-103338200	Weak transcription	Hela-S3	cervix
50	chr8:103327000-103335400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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