Variant report

Variant	rs72687572
Chromosome Location	chr9:2020386-2020387
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:2020289-2020392	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:2013479..2017608-chr9:2017826..2022083,7	MCF-7	breast:
2	chr9:2019923..2022306-chr9:2028801..2031582,2	K562	blood:
3	chr9:2018308..2020609-chr9:2085608..2087272,2	K562	blood:

Variant related genes	Relation type
SMARCA2	TF binding region
ENSG00000080503	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10757122	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10964447	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10964461	0.81[AFR][1000 genomes]
rs72687569	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72687570	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72687571	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016148	chr9:1457605-2361750	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv539916	chr9:1457605-2361750	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1021712	chr9:1647840-2216839	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv539921	chr9:1647840-2216839	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv831493	chr9:1885733-2074135	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv892048	chr9:1888703-2177391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1021158	chr9:1963930-2040728	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv892052	chr9:1980819-2072470	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv2830420	chr9:1998911-2119702	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv613079	chr9:2012767-2059341	Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv466069	chr9:2018825-2066493	Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv613080	chr9:2018825-2066493	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2014200-2021400	Active TSS	GM12878-XiMat	blood
2	chr9:2018000-2020800	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr9:2018000-2028200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:2018200-2023200	Weak transcription	Spleen	Spleen
5	chr9:2018200-2033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:2018400-2023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:2018400-2023000	Weak transcription	Gastric	stomach
8	chr9:2018400-2027200	Weak transcription	Esophagus	oesophagus
9	chr9:2018600-2023200	Weak transcription	Pancreas	Pancrea
10	chr9:2018800-2021800	Weak transcription	Left Ventricle	heart
11	chr9:2019000-2020600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr9:2019000-2021800	Weak transcription	Lung	lung
13	chr9:2019000-2032800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:2019000-2033200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:2019200-2020400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:2019200-2020400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:2019200-2021800	Weak transcription	Stomach Mucosa	stomach
18	chr9:2019200-2023200	Weak transcription	Aorta	Aorta
19	chr9:2019200-2024600	Weak transcription	HSMMtube	muscle
20	chr9:2019200-2032600	Weak transcription	A549	lung
21	chr9:2019200-2039400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:2019400-2020400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr9:2019400-2020400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:2019400-2020400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr9:2019400-2020600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:2019400-2020800	Enhancers	Liver	Liver
27	chr9:2019400-2020800	Enhancers	Brain Anterior Caudate	brain
28	chr9:2019400-2020800	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:2019400-2020800	Enhancers	Rectal Smooth Muscle	rectum
30	chr9:2019400-2021000	Enhancers	Fetal Lung	lung
31	chr9:2019400-2021400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr9:2019400-2021400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr9:2019400-2021400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr9:2019400-2021400	Weak transcription	Ovary	ovary
35	chr9:2019400-2021400	Weak transcription	NHEK	skin
36	chr9:2019400-2021800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:2019400-2021800	Weak transcription	Placenta	Placenta
38	chr9:2019400-2021800	Weak transcription	Psoas Muscle	Psoas
39	chr9:2019400-2021800	Weak transcription	Right Ventricle	heart
40	chr9:2019400-2022200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr9:2019400-2022200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:2019400-2022200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr9:2019400-2022800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr9:2019400-2022800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr9:2019400-2022800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr9:2019400-2022800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr9:2019400-2022800	Weak transcription	Brain Substantia Nigra	brain
48	chr9:2019400-2022800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:2019400-2023000	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:2019400-2024600	Weak transcription	Hela-S3	cervix

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