Variant report

Variant	rs72969275
Chromosome Location	chr4:106660958-106660959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10026373	1.00[EUR][1000 genomes]
rs12331437	1.00[EUR][1000 genomes]
rs17036260	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28421902	1.00[EUR][1000 genomes]
rs56924509	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57357762	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6812579	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6827293	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832006	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6841297	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6842870	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6850604	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72956940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960918	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960924	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72969249	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72969253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666495	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7671981	0.98[AFR][1000 genomes]
rs7691960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7696673	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv879700	chr4:106643445-106745057	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000947	chr4:106651153-106701679	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:106634000-106693200	Weak transcription	K562	blood
4	chr4:106635600-106665000	Weak transcription	HUVEC	blood vessel
5	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:106643000-106662600	Weak transcription	Fetal Kidney	kidney
7	chr4:106648000-106669800	Weak transcription	HSMM	muscle
8	chr4:106657000-106661000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:106657000-106661000	Weak transcription	Fetal Intestine Small	intestine
10	chr4:106657000-106661000	Weak transcription	Fetal Thymus	thymus
11	chr4:106657000-106661000	Weak transcription	Pancreas	Pancrea
12	chr4:106657000-106661000	Weak transcription	Spleen	Spleen
13	chr4:106657000-106662400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:106657000-106663000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:106657000-106669800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:106657000-106669800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:106657000-106670000	Weak transcription	Gastric	stomach
18	chr4:106657000-106670200	Weak transcription	Ovary	ovary
19	chr4:106658600-106661400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:106659000-106669800	Weak transcription	Dnd41	blood
21	chr4:106659200-106661000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:106659200-106661000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:106659200-106661600	Weak transcription	NHEK	skin
24	chr4:106659200-106663000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:106659200-106666800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:106659200-106667200	Weak transcription	A549	lung
27	chr4:106659200-106669800	Weak transcription	Left Ventricle	heart
28	chr4:106659400-106662000	Weak transcription	Fetal Brain Male	brain
29	chr4:106659400-106662200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:106659400-106662400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:106659400-106662800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:106659400-106663600	Weak transcription	Aorta	Aorta
33	chr4:106659400-106664800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:106659400-106668600	Weak transcription	Primary T cells from cord blood	blood
35	chr4:106659400-106679400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:106659400-106686400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:106659600-106661000	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:106659600-106662800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:106659600-106665200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:106659600-106666400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:106659600-106666600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:106659600-106668400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:106659600-106669400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:106659600-106670000	Weak transcription	Fetal Intestine Large	intestine
45	chr4:106659600-106671000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:106659600-106691800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:106659800-106662400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:106659800-106662400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr4:106659800-106669600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:106659800-106671800	Weak transcription	Fetal Brain Female	brain

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