Variant report

Variant	rs72696446
Chromosome Location	chr9:19052289-19052290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:19050026..19052622-chr9:19058219..19060617,2	K562	blood:
2	chr9:19051025..19055237-chr9:19064013..19066512,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147874	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11787990	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11788588	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11788977	0.89[EUR][1000 genomes]
rs11789469	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11790182	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11791226	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11791674	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11791698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11792293	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11793228	0.83[AMR][1000 genomes]
rs11793687	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11795205	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11795374	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2229536	0.83[AMR][1000 genomes]
rs35004770	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35568725	0.83[AMR][1000 genomes]
rs41269003	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41269015	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs41303687	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41316035	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56310265	0.83[AMR][1000 genomes]
rs67330394	0.83[AMR][1000 genomes]
rs72696432	0.83[EUR][1000 genomes]
rs72696445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696450	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72696453	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72696455	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72696456	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72696458	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72696459	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72696462	0.89[EUR][1000 genomes]
rs72696463	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72696465	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72696469	0.89[EUR][1000 genomes]
rs72696470	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72696479	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696480	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696481	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696482	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696485	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696487	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72696488	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696489	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696491	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696494	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696499	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72696500	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72696501	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72696502	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72698303	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72698305	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72698306	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72698310	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72698311	0.83[AMR][1000 genomes]
rs72698312	0.83[AMR][1000 genomes]
rs72698318	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv973452	chr9:19033958-19053096	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19050600-19052800	Flanking Active TSS	Fetal Brain Female	brain
2	chr9:19050600-19056600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:19050600-19060800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:19050600-19062600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:19050600-19063600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:19050600-19069000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:19050800-19052400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:19050800-19052600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
9	chr9:19050800-19052600	Enhancers	Small Intestine	intestine
10	chr9:19050800-19074200	Weak transcription	Lung	lung
11	chr9:19051000-19052400	Enhancers	Primary B cells from cord blood	blood
12	chr9:19051000-19052400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr9:19051000-19052600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr9:19051000-19053400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:19051000-19056600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:19051000-19059000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr9:19051200-19052400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr9:19051200-19052400	Enhancers	K562	blood
19	chr9:19051200-19052600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr9:19051200-19057000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:19051400-19052400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:19051400-19052400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:19051400-19052400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:19051400-19052400	Enhancers	Liver	Liver
25	chr9:19051400-19052400	Enhancers	Left Ventricle	heart
26	chr9:19051400-19052400	Enhancers	HUVEC	blood vessel
27	chr9:19051400-19052600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr9:19051400-19052800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:19051400-19052800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr9:19051400-19053000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr9:19051400-19053600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:19051400-19054400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr9:19051400-19054800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:19051400-19055400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr9:19051400-19056600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr9:19051400-19056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:19051400-19056600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr9:19051400-19056600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr9:19051400-19056600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:19051400-19066400	Weak transcription	Colonic Mucosa	Colon
41	chr9:19051600-19052400	Weak transcription	Aorta	Aorta
42	chr9:19051600-19052400	Enhancers	Pancreas	Pancrea
43	chr9:19051600-19052600	Enhancers	Primary B cells from peripheral blood	blood
44	chr9:19051600-19052600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:19051600-19052800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:19051600-19052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr9:19051600-19052800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
48	chr9:19051600-19052800	Enhancers	Fetal Brain Male	brain
49	chr9:19051600-19055200	Weak transcription	Placenta	Placenta
50	chr9:19051600-19055600	Weak transcription	Monocytes-CD14+_RO01746	blood

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