Variant report

Variant	rs72722471
Chromosome Location	chr4:143219143-143219144
allele	C/T
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:30)

rs_ID	r²[population]
rs10001631	0.85[ASN][1000 genomes]
rs10003428	0.85[ASN][1000 genomes]
rs17015754	0.85[ASN][1000 genomes]
rs17015774	0.85[ASN][1000 genomes]
rs17015778	0.85[ASN][1000 genomes]
rs17015779	0.85[ASN][1000 genomes]
rs2322546	0.85[ASN][1000 genomes]
rs2322547	0.85[ASN][1000 genomes]
rs2322548	0.85[ASN][1000 genomes]
rs2627809	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2627810	0.85[ASN][1000 genomes]
rs28420315	0.85[ASN][1000 genomes]
rs28448773	0.85[ASN][1000 genomes]
rs28529144	0.85[ASN][1000 genomes]
rs28533923	0.85[ASN][1000 genomes]
rs28584886	0.85[ASN][1000 genomes]
rs28611471	0.85[ASN][1000 genomes]
rs28647625	0.85[ASN][1000 genomes]
rs28672226	0.85[ASN][1000 genomes]
rs28690972	0.85[ASN][1000 genomes]
rs28705116	0.85[ASN][1000 genomes]
rs4629539	0.85[ASN][1000 genomes]
rs6818542	0.85[ASN][1000 genomes]
rs6818735	0.85[ASN][1000 genomes]
rs6835967	0.85[ASN][1000 genomes]
rs6844709	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6846839	0.85[ASN][1000 genomes]
rs6847049	0.85[ASN][1000 genomes]
rs7672615	0.85[ASN][1000 genomes]
rs7691738	0.85[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	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
6	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143192000-143219400	Weak transcription	Dnd41	blood
2	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
3	chr4:143199400-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:143204000-143230600	Weak transcription	Left Ventricle	heart
6	chr4:143204200-143229000	Weak transcription	NHEK	skin
7	chr4:143204600-143233600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:143206000-143233400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:143207000-143223200	Weak transcription	Aorta	Aorta
10	chr4:143208800-143220400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:143209200-143226400	Weak transcription	Fetal Heart	heart
12	chr4:143209800-143229000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:143210800-143235400	Weak transcription	Right Ventricle	heart
14	chr4:143211000-143220000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:143211600-143224600	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:143214200-143220000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:143214200-143230600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:143215200-143235200	Weak transcription	Osteobl	bone
19	chr4:143215600-143225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:143215800-143235200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:143216000-143220000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:143216200-143234600	Weak transcription	Thymus	Thymus
23	chr4:143216600-143219200	Weak transcription	HMEC	breast
24	chr4:143216600-143233600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:143216800-143220000	Weak transcription	HSMMtube	muscle
26	chr4:143216800-143224800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:143217000-143220600	Strong transcription	HSMM	muscle
28	chr4:143217000-143222600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:143217400-143220400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr4:143217600-143220000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:143217600-143238600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:143217600-143260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:143217800-143219200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:143217800-143219600	Strong transcription	Primary T cells from cord blood	blood
35	chr4:143217800-143227000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:143218000-143219400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:143218200-143219400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:143218200-143233400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:143218400-143219200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:143218400-143219200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:143218400-143219200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:143218600-143219200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:143218600-143220600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:143218600-143223600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:143218600-143229000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:143218800-143219600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:143218800-143234600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:143219000-143220000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:143219000-143220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:143219000-143223200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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