Variant report

Variant	rs28823294
Chromosome Location	chr4:107026693-107026694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:107023929..107026888-chr4:107039825..107042203,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10009873	0.90[AMR][1000 genomes]
rs10010622	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10010712	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10023586	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10026011	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10033060	0.90[AMR][1000 genomes]
rs11544776	0.90[AMR][1000 genomes]
rs11729561	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11729801	0.90[AMR][1000 genomes]
rs11736679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28408532	0.90[AMR][1000 genomes]
rs28432701	0.90[AMR][1000 genomes]
rs28472461	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28597815	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28600674	0.90[AMR][1000 genomes]
rs28615207	0.90[AMR][1000 genomes]
rs28648796	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663259	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28668834	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28722963	0.90[AMR][1000 genomes]
rs28783132	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28786397	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786712	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28843476	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28848568	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28852980	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28857517	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28890246	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6820647	0.90[AMR][1000 genomes]
rs7356173	0.90[AMR][1000 genomes]
rs7679603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9996386	0.90[AMR][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	esv1799793	chr4:107000462-107062671	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1801716	chr4:107000462-107062671	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv1849248	chr4:107000462-107062671	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv1850577	chr4:107000462-107062671	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv511247	chr4:107022702-107065220	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv879701	chr4:107024776-107163128	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106997200-107031000	Weak transcription	Psoas Muscle	Psoas
2	chr4:107012400-107026800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:107012600-107026800	Weak transcription	Fetal Kidney	kidney
4	chr4:107012600-107029800	Weak transcription	Fetal Brain Male	brain
5	chr4:107012600-107029800	Weak transcription	Dnd41	blood
6	chr4:107012600-107031200	Weak transcription	Brain Angular Gyrus	brain
7	chr4:107012600-107033200	Weak transcription	Osteobl	bone
8	chr4:107012600-107033800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:107012600-107034400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:107012600-107038400	Weak transcription	NHDF-Ad	bronchial
11	chr4:107012800-107030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:107012800-107031400	Weak transcription	HSMMtube	muscle
13	chr4:107012800-107033400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:107013000-107031000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:107014000-107029800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:107014000-107031000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:107014000-107031000	Weak transcription	Fetal Thymus	thymus
18	chr4:107014000-107031200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:107014000-107034600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:107014200-107029200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:107014200-107030600	Weak transcription	Right Ventricle	heart
22	chr4:107014200-107030800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:107014200-107031000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:107014200-107031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:107014200-107031200	Weak transcription	Colonic Mucosa	Colon
26	chr4:107014200-107031200	Weak transcription	Gastric	stomach
27	chr4:107014400-107029400	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:107014400-107031200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:107014600-107031200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:107014800-107028600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:107014800-107031200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:107015000-107027400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:107020000-107029000	Weak transcription	Fetal Lung	lung
34	chr4:107024200-107027000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:107024400-107026800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:107024400-107027200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:107024600-107027000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:107024600-107027400	Strong transcription	Primary B cells from cord blood	blood
39	chr4:107024600-107027400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:107024600-107028000	Strong transcription	Primary T cells from cord blood	blood
41	chr4:107024600-107028000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr4:107024600-107028000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:107024600-107028000	Strong transcription	Adipose Nuclei	Adipose
44	chr4:107024600-107028600	Strong transcription	Liver	Liver
45	chr4:107024800-107026800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:107024800-107026800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:107024800-107026800	Strong transcription	Spleen	Spleen
48	chr4:107024800-107027400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:107024800-107027400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr4:107024800-107027600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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