Variant report

Variant	rs72709611
Chromosome Location	chr9:33448744-33448745
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:33445766..33447768-chr9:33448192..33450842,2	K562	blood:
2	chr9:33289115..33292246-chr9:33446804..33450002,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086102	Chromatin interaction
ENSG00000165272	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3860990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56108788	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709610	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72709612	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72709613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72709621	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709624	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72709629	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709632	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024207	chr9:33296368-33574892	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1024571	chr9:33380148-33468682	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	esv1846775	chr9:33380722-33464665	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1015928	chr9:33386067-33468682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv893018	chr9:33408019-33451136	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv466380	chr9:33434931-33453638	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv614147	chr9:33434931-33453638	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv516500	chr9:33434931-33466859	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	nsv893019	chr9:33436563-33449952	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv893020	chr9:33441826-33449952	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv893021	chr9:33442986-33449952	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv893024	chr9:33444861-33449952	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv893025	chr9:33445716-33449952	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:33447600-33452800	Weak transcription	Small Intestine	intestine
2	chr9:33448200-33449000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:33448200-33449000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:33448200-33450600	Weak transcription	A549	lung
5	chr9:33448200-33452400	Weak transcription	HUVEC	blood vessel
6	chr9:33448200-33452800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:33448200-33461800	Weak transcription	Right Ventricle	heart
8	chr9:33448400-33448800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr9:33448400-33448800	Enhancers	Liver	Liver
10	chr9:33448400-33449000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:33448400-33449000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:33448400-33449000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr9:33448400-33449000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:33448400-33449000	Enhancers	NHEK	skin
15	chr9:33448400-33449200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr9:33448400-33449200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr9:33448400-33449400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr9:33448400-33449400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr9:33448400-33450400	Weak transcription	Hela-S3	cervix
20	chr9:33448400-33450600	Weak transcription	Fetal Intestine Large	intestine
21	chr9:33448400-33452400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:33448400-33452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:33448400-33452400	Weak transcription	Stomach Mucosa	stomach
24	chr9:33448400-33452400	Weak transcription	K562	blood
25	chr9:33448400-33452600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr9:33448400-33452600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr9:33448400-33452600	Weak transcription	Fetal Heart	heart
28	chr9:33448400-33452600	Weak transcription	Placenta	Placenta
29	chr9:33448400-33452600	Weak transcription	Lung	lung
30	chr9:33448400-33452600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr9:33448400-33452800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr9:33448400-33452800	Weak transcription	HSMMtube	muscle
33	chr9:33448400-33453000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:33448400-33453000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:33448400-33458200	Weak transcription	Gastric	stomach
36	chr9:33448400-33460200	Weak transcription	Brain Anterior Caudate	brain
37	chr9:33448400-33460200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:33448400-33460800	Weak transcription	Brain Hippocampus Middle	brain
39	chr9:33448400-33460800	Weak transcription	Left Ventricle	heart
40	chr9:33448400-33473000	Weak transcription	Right Atrium	heart
41	chr9:33448600-33448800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr9:33448600-33448800	Enhancers	Fetal Thymus	thymus
43	chr9:33448600-33448800	Enhancers	Dnd41	blood
44	chr9:33448600-33449000	Weak transcription	Spleen	Spleen
45	chr9:33448600-33449400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr9:33448600-33449800	Weak transcription	Esophagus	oesophagus
47	chr9:33448600-33450000	Enhancers	Thymus	Thymus
48	chr9:33448600-33450600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:33448600-33450600	Weak transcription	Fetal Intestine Small	intestine
50	chr9:33448600-33451200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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