Variant report

Variant	rs10008759
Chromosome Location	chr4:143148740-143148741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10001767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10006332	1.00[AMR][1000 genomes]
rs10019498	1.00[AMR][1000 genomes]
rs10020982	1.00[AMR][1000 genomes]
rs10021653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10023134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10023428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10024733	1.00[AMR][1000 genomes]
rs10028981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10035027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11100742	1.00[AMR][1000 genomes]
rs12019252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12019254	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13435003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28372237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28397201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28401451	1.00[AMR][1000 genomes]
rs28401585	1.00[AMR][1000 genomes]
rs28480473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28493565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28495283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28508450	1.00[AMR][1000 genomes]
rs28523591	1.00[AMR][1000 genomes]
rs28583928	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28594354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28622082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28634489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28642981	1.00[AMR][1000 genomes]
rs28663403	1.00[AFR][1000 genomes]
rs28851623	1.00[AMR][1000 genomes]
rs9991976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9998759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
3	chr4:143114600-143150600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:143128800-143157200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:143128800-143158600	Weak transcription	NHDF-Ad	bronchial
6	chr4:143129000-143153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:143129000-143155200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:143129000-143157200	Weak transcription	Dnd41	blood
9	chr4:143129200-143152200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:143129200-143155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:143129200-143157200	Weak transcription	NHEK	skin
12	chr4:143129200-143169600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:143130200-143157200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:143131600-143152200	Weak transcription	HSMM	muscle
15	chr4:143133600-143157200	Weak transcription	HMEC	breast
16	chr4:143135000-143150600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:143139400-143157200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:143139400-143159600	Weak transcription	HSMMtube	muscle
20	chr4:143142200-143159800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:143143600-143159600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:143144000-143149600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:143144000-143159200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:143144200-143150600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:143144400-143150200	Weak transcription	Right Ventricle	heart
26	chr4:143145200-143157800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:143146600-143152200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:143148400-143148800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:143148400-143150600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:143148400-143150600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:143148600-143150400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:143148600-143150600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:143148600-143156000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:143148600-143157200	Weak transcription	Primary T cells from cord blood	blood

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