Variant report

Variant	rs28584886
Chromosome Location	chr4:143199720-143199721
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10001631	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10003428	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015754	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015774	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015778	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015779	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705389	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2322546	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322547	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322548	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627810	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636646	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28420315	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448773	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28529144	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28533923	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28611471	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28647625	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28672226	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690972	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28705116	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629539	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818542	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818735	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835967	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844709	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6846839	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847049	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722471	0.85[ASN][1000 genomes]
rs7672615	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691738	0.85[EUR][1000 genomes];1.00[ASN][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143183000-143204800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143186600-143199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:143187400-143200400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:143187400-143203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:143187600-143200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:143192000-143210600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:143192000-143219400	Weak transcription	Dnd41	blood
9	chr4:143192200-143203800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:143192200-143206000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:143194000-143200200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
13	chr4:143196200-143203600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:143196800-143203200	Weak transcription	A549	lung
15	chr4:143197400-143202200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr4:143197600-143203800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:143198000-143201200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:143198600-143200200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:143198800-143199800	Strong transcription	Primary T cells from cord blood	blood
20	chr4:143199000-143199800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:143199000-143201000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:143199200-143199800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr4:143199200-143199800	Genic enhancers	HSMM	muscle
24	chr4:143199200-143200000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:143199200-143200200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:143199200-143200200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:143199200-143200600	Enhancers	NHEK	skin
28	chr4:143199400-143200000	Enhancers	NH-A	brain
29	chr4:143199400-143200200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:143199400-143200200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:143199400-143200200	Enhancers	HMEC	breast
32	chr4:143199400-143200400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr4:143199400-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:143199600-143200000	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr4:143199600-143200000	Enhancers	HSMMtube	muscle
36	chr4:143199600-143203400	Weak transcription	Aorta	Aorta
37	chr4:143199600-143204200	Weak transcription	Osteobl	bone

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