Variant report

Variant	rs72939440
Chromosome Location	chr6:106961210-106961211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106960909..106962616-chr6:107349289..107351681,2	MCF-7	breast:
2	chr6:106936437..106938176-chr6:106959829..106962092,2	K562	blood:
3	chr6:106952645..106955429-chr6:106959874..106962805,2	MCF-7	breast:
4	chr6:106942291..106945585-chr6:106960604..106964203,3	K562	blood:
5	chr6:106957571..106959305-chr6:106960058..106962439,2	MCF-7	breast:
6	chr6:106949667..106951888-chr6:106960246..106961823,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130349	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17495053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17495248	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17495512	0.92[AMR][1000 genomes]
rs17495623	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17495678	0.92[AMR][1000 genomes]
rs17495742	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs61741114	0.86[AFR][1000 genomes]
rs66465674	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72939427	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72939431	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72939433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72939434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72939435	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939443	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72941307	0.86[AFR][1000 genomes]
rs72941326	0.86[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	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106957000-106962800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:106957200-106961600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:106957200-106962800	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr6:106957400-106962200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:106957400-106963400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr6:106957800-106961400	Active TSS	Right Atrium	heart
7	chr6:106958400-106962000	Active TSS	GM12878-XiMat	blood
8	chr6:106958400-106962200	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr6:106958600-106961400	Bivalent/Poised TSS	Psoas Muscle	Psoas
10	chr6:106958800-106961600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:106959200-106962200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:106959400-106961800	Active TSS	Primary monocytes fromperipheralblood	blood
13	chr6:106959400-106962200	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr6:106959600-106961400	Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr6:106959600-106961600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
16	chr6:106959600-106961600	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr6:106959600-106961800	Active TSS	Primary B cells from peripheral blood	blood
18	chr6:106959600-106962000	Active TSS	Small Intestine	intestine
19	chr6:106959600-106962400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:106959600-106962400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:106959600-106963400	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr6:106959600-106963600	Active TSS	NHEK	skin
23	chr6:106959800-106961400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
24	chr6:106959800-106961400	Bivalent/Poised TSS	Fetal Lung	lung
25	chr6:106959800-106961800	Active TSS	NHLF	lung
26	chr6:106959800-106962600	Active TSS	Rectal Smooth Muscle	rectum
27	chr6:106959800-106962800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:106959800-106963200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:106960000-106962600	Active TSS	Colonic Mucosa	Colon
30	chr6:106960200-106963200	Active TSS	Duodenum Mucosa	Duodenum
31	chr6:106960200-106963400	Active TSS	Primary T cells fromperipheralblood	blood
32	chr6:106960200-106963400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:106960400-106961400	Active TSS	Right Ventricle	heart
34	chr6:106960400-106961400	Active TSS	HMEC	breast
35	chr6:106960400-106963200	Active TSS	Placenta	Placenta
36	chr6:106960600-106962600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr6:106960600-106963400	Flanking Active TSS	Dnd41	blood
38	chr6:106960800-106961400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
39	chr6:106960800-106961400	Flanking Active TSS	Osteobl	bone
40	chr6:106960800-106961600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr6:106960800-106961600	Flanking Active TSS	Thymus	Thymus
42	chr6:106960800-106961800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr6:106960800-106961800	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr6:106960800-106962400	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr6:106960800-106962600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr6:106960800-106962600	Flanking Active TSS	HUVEC	blood vessel
47	chr6:106960800-106962800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:106961000-106961400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr6:106961000-106961400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr6:106961000-106961400	Active TSS	Fetal Intestine Large	intestine

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