Variant report

Variant	rs72736196
Chromosome Location	chr9:110048610-110048611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110044300..110048942-chr9:110067094..110074281,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11573614	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11573622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11573628	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11573629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11573648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11573675	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11573691	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11573693	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11573695	0.94[EUR][1000 genomes]
rs11573732	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1805330	0.94[EUR][1000 genomes]
rs41555117	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58278531	0.94[EUR][1000 genomes]
rs67197321	0.96[EUR][1000 genomes]
rs7038659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736111	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72736112	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72736117	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72736120	0.98[EUR][1000 genomes]
rs72736121	0.98[EUR][1000 genomes]
rs72736122	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72736180	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72736182	0.98[EUR][1000 genomes]
rs72736185	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72736186	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72736187	0.98[EUR][1000 genomes]
rs72736188	0.98[EUR][1000 genomes]
rs72736192	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72736197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738207	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72738211	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72738212	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72738213	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72738215	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72738216	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72738220	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72738224	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72738225	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72738229	0.87[AMR][1000 genomes];0.96[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	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831682	chr9:109937181-110075453	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv893698	chr9:109998563-110052660	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv508560	chr9:110006490-110060539	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110044400-110048800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:110044600-110049000	Active TSS	Right Ventricle	heart
3	chr9:110044800-110048800	Active TSS	Psoas Muscle	Psoas
4	chr9:110044800-110048800	Active TSS	HSMMtube	muscle
5	chr9:110045000-110050600	Active TSS	NHLF	lung
6	chr9:110046400-110048800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:110046600-110049000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr9:110046800-110049000	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr9:110046800-110049000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr9:110046800-110050800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:110046800-110050800	Weak transcription	Gastric	stomach
12	chr9:110046800-110050800	Weak transcription	Pancreas	Pancrea
13	chr9:110046800-110051000	Weak transcription	Spleen	Spleen
14	chr9:110047000-110048800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:110047000-110049000	Flanking Active TSS	Dnd41	blood
16	chr9:110047200-110049800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:110047200-110050600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr9:110047200-110050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:110047200-110052400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:110047200-110052600	Enhancers	Primary B cells from peripheral blood	blood
21	chr9:110047200-110054600	Weak transcription	Lung	lung
22	chr9:110047400-110048800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr9:110047400-110048800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr9:110047600-110048800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:110047600-110067200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:110047800-110048800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:110047800-110048800	Enhancers	Brain Hippocampus Middle	brain
28	chr9:110047800-110048800	Enhancers	Brain Substantia Nigra	brain
29	chr9:110047800-110048800	Flanking Active TSS	NHEK	skin
30	chr9:110047800-110049200	Enhancers	Stomach Mucosa	stomach
31	chr9:110047800-110049800	Enhancers	Primary B cells from cord blood	blood
32	chr9:110047800-110051800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr9:110047800-110054200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr9:110048000-110048800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:110048000-110048800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr9:110048000-110048800	Flanking Active TSS	HUVEC	blood vessel
37	chr9:110048000-110049000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr9:110048000-110049200	Enhancers	Brain Anterior Caudate	brain
39	chr9:110048000-110049200	Enhancers	Fetal Intestine Small	intestine
40	chr9:110048000-110049400	Enhancers	Primary hematopoietic stem cells	blood
41	chr9:110048000-110050200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:110048000-110051000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:110048000-110051200	Enhancers	Thymus	Thymus
44	chr9:110048000-110053200	Weak transcription	Fetal Thymus	thymus
45	chr9:110048000-110056000	Weak transcription	Aorta	Aorta
46	chr9:110048000-110058400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr9:110048200-110048800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:110048200-110048800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr9:110048200-110048800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr9:110048200-110048800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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