Variant report

Variant	rs72969249
Chromosome Location	chr4:106612996-106612997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106611754..106614555-chr4:106620731..106623654,3	K562	blood:

Variant related genes	Relation type
ENSG00000236699	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17036260	1.00[AMR][1000 genomes]
rs56924509	1.00[AMR][1000 genomes]
rs57357762	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812579	1.00[AMR][1000 genomes]
rs6827293	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6832006	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6841297	1.00[AMR][1000 genomes]
rs6850604	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72956940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72960918	1.00[AMR][1000 genomes]
rs72969253	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72969275	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7671981	0.89[AFR][1000 genomes]
rs7691960	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106580400-106613200	Weak transcription	Fetal Intestine Small	intestine
2	chr4:106587800-106629000	Weak transcription	Lung	lung
3	chr4:106598600-106613000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:106599000-106614400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:106599200-106613800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:106600400-106628600	Weak transcription	Colonic Mucosa	Colon
7	chr4:106600600-106628400	Weak transcription	Stomach Mucosa	stomach
8	chr4:106601200-106628400	Weak transcription	Psoas Muscle	Psoas
9	chr4:106602000-106618600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:106602200-106621600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:106602200-106629200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:106602400-106613200	Weak transcription	Fetal Stomach	stomach
13	chr4:106602400-106615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:106602400-106618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:106602400-106621600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:106602400-106628600	Weak transcription	Right Ventricle	heart
17	chr4:106602600-106614000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:106602600-106614000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:106602600-106620800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:106602600-106621200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:106602600-106621800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:106602600-106622200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr4:106602600-106628400	Weak transcription	Fetal Heart	heart
24	chr4:106602600-106629200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:106602800-106614400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:106602800-106617200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:106602800-106619200	Strong transcription	Liver	Liver
28	chr4:106603000-106617200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:106603000-106620200	Strong transcription	Placenta	Placenta
30	chr4:106603000-106620400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:106603000-106620400	Strong transcription	Dnd41	blood
32	chr4:106603000-106621000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:106604200-106618600	Weak transcription	Spleen	Spleen
34	chr4:106604400-106613000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:106604400-106613000	Weak transcription	Aorta	Aorta
36	chr4:106604400-106613000	Weak transcription	Ovary	ovary
37	chr4:106604400-106614000	Weak transcription	Brain Angular Gyrus	brain
38	chr4:106604400-106616400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:106604400-106617000	Weak transcription	Pancreas	Pancrea
40	chr4:106604400-106629200	Weak transcription	Esophagus	oesophagus
41	chr4:106604400-106629200	Weak transcription	Gastric	stomach
42	chr4:106605400-106614000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:106605400-106621600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:106606600-106620000	Strong transcription	Fetal Thymus	thymus
45	chr4:106606600-106628200	Weak transcription	Hela-S3	cervix
46	chr4:106607000-106617400	Strong transcription	Fetal Intestine Large	intestine
47	chr4:106607600-106626400	Weak transcription	Small Intestine	intestine
48	chr4:106609000-106620600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:106609200-106616400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:106609200-106620000	Strong transcription	Fetal Muscle Trunk	muscle

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