Variant report

Variant	rs72924154
Chromosome Location	chr4:129936291-129936292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs56219732	1.00[AMR][1000 genomes]
rs56765848	1.00[AFR][1000 genomes]
rs58051833	1.00[AFR][1000 genomes]
rs59285303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59715472	1.00[AFR][1000 genomes]
rs61702015	1.00[AFR][1000 genomes]
rs72922050	1.00[AFR][1000 genomes]
rs72922052	1.00[AFR][1000 genomes]
rs72922062	1.00[AFR][1000 genomes]
rs72922075	1.00[AFR][1000 genomes]
rs72922078	1.00[AFR][1000 genomes]
rs72922083	1.00[AFR][1000 genomes]
rs72922086	1.00[AFR][1000 genomes]
rs72922093	1.00[AFR][1000 genomes]
rs72922097	1.00[AFR][1000 genomes]
rs72922099	1.00[AFR][1000 genomes]
rs72922102	1.00[AFR][1000 genomes]
rs72922806	1.00[AMR][1000 genomes]
rs72924103	1.00[AFR][1000 genomes]
rs72924109	1.00[AFR][1000 genomes]
rs72924111	1.00[AFR][1000 genomes]
rs72924115	1.00[AFR][1000 genomes]
rs72924122	1.00[AFR][1000 genomes]
rs72924130	0.81[AFR][1000 genomes]
rs72924138	1.00[AFR][1000 genomes]
rs72924157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924160	1.00[AFR][1000 genomes]
rs72924167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924180	1.00[AFR][1000 genomes]
rs72924185	1.00[AFR][1000 genomes]
rs72926010	1.00[AFR][1000 genomes]
rs72926011	1.00[AFR][1000 genomes]
rs72926013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926036	1.00[AFR][1000 genomes]
rs72926056	1.00[AFR][1000 genomes]
rs72926071	1.00[AFR][1000 genomes]
rs72926072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927922	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927928	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927936	0.90[AFR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129911400-129936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:129917400-129942400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:129932000-129944000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:129932200-129947000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:129933200-129942200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:129933400-129942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:129933400-129942000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:129933800-129937400	Weak transcription	NHEK	skin
9	chr4:129934000-129942400	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:129934200-129942600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:129934200-129944200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:129934400-129936400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:129934600-129944200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:129934600-129944200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:129935000-129942200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr4:129935400-129937000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr4:129935400-129937000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
18	chr4:129935400-129937200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:129935400-129937200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr4:129935400-129937800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:129935400-129937800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:129935600-129936400	Enhancers	HSMM	muscle
23	chr4:129935600-129936800	Weak transcription	Brain Angular Gyrus	brain
24	chr4:129935600-129936800	Genic enhancers	Dnd41	blood
25	chr4:129935600-129937000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:129935600-129937000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:129935600-129937000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:129935600-129937000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:129935600-129943400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:129935800-129936400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:129935800-129936600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:129935800-129936800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:129935800-129936800	Strong transcription	Thymus	Thymus
34	chr4:129935800-129936800	Strong transcription	A549	lung
35	chr4:129935800-129937000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:129935800-129937000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:129935800-129937000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:129935800-129937000	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr4:129935800-129937000	ZNF genes & repeats	Lung	lung
40	chr4:129935800-129937000	ZNF genes & repeats	Ovary	ovary
41	chr4:129935800-129937000	ZNF genes & repeats	Pancreas	Pancrea
42	chr4:129935800-129937200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:129935800-129937200	Strong transcription	Fetal Lung	lung
44	chr4:129935800-129937200	ZNF genes & repeats	Fetal Stomach	stomach
45	chr4:129935800-129937600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr4:129935800-129937600	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr4:129935800-129937600	ZNF genes & repeats	Gastric	stomach
48	chr4:129935800-129937800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:129935800-129943800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:129935800-129944400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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