Variant report

Variant	rs72939435
Chromosome Location	chr6:106960977-106960978
allele	A/G
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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17495053	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17495248	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17495512	0.85[AMR][1000 genomes]
rs17495623	0.85[AMR][1000 genomes]
rs17495678	0.85[AMR][1000 genomes]
rs17495742	0.85[AMR][1000 genomes]
rs66465674	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72939427	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72939431	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72939433	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72939434	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72939440	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939443	0.92[AMR][1000 genomes];0.94[EUR][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106957000-106962800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:106957200-106961200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:106957200-106961600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:106957200-106962800	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr6:106957400-106962200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:106957400-106963400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:106957600-106961000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:106957800-106961400	Active TSS	Right Atrium	heart
9	chr6:106958000-106961000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr6:106958200-106961200	Active TSS	NHDF-Ad	bronchial
11	chr6:106958400-106962000	Active TSS	GM12878-XiMat	blood
12	chr6:106958400-106962200	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr6:106958600-106961000	Active TSS	Aorta	Aorta
14	chr6:106958600-106961000	Active TSS	Gastric	stomach
15	chr6:106958600-106961400	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr6:106958800-106961200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:106958800-106961600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:106959000-106961000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr6:106959200-106961000	Active TSS	HSMMtube	muscle
20	chr6:106959200-106962200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:106959400-106961000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:106959400-106961000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:106959400-106961000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr6:106959400-106961000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:106959400-106961000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:106959400-106961000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr6:106959400-106961000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr6:106959400-106961000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr6:106959400-106961000	Active TSS	Ovary	ovary
30	chr6:106959400-106961200	Bivalent/Poised TSS	Fetal Kidney	kidney
31	chr6:106959400-106961800	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr6:106959400-106962200	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr6:106959600-106961000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:106959600-106961000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr6:106959600-106961000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr6:106959600-106961000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:106959600-106961000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:106959600-106961000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr6:106959600-106961000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr6:106959600-106961000	Bivalent/Poised TSS	Left Ventricle	heart
41	chr6:106959600-106961200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr6:106959600-106961200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr6:106959600-106961200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:106959600-106961200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:106959600-106961200	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr6:106959600-106961200	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr6:106959600-106961200	Active TSS	Hela-S3	cervix
48	chr6:106959600-106961400	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr6:106959600-106961600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr6:106959600-106961600	Active TSS	Monocytes-CD14+_RO01746	blood

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