Variant report

Variant	rs72696469
Chromosome Location	chr9:19076764-19076765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11787990	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11788085	0.90[EUR][1000 genomes]
rs11788588	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11788977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11789049	0.85[EUR][1000 genomes]
rs11789469	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11790182	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11791226	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11791674	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11791698	0.80[EUR][1000 genomes]
rs11792293	0.87[EUR][1000 genomes]
rs11792398	0.85[EUR][1000 genomes]
rs11793228	0.83[AMR][1000 genomes]
rs11793687	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11795205	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11795374	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16937266	0.85[EUR][1000 genomes]
rs16937284	0.90[EUR][1000 genomes]
rs17236531	0.90[EUR][1000 genomes]
rs2229536	0.83[AMR][1000 genomes]
rs34387057	0.85[EUR][1000 genomes]
rs35004770	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35568725	0.83[AMR][1000 genomes]
rs41269003	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41269015	0.83[AMR][1000 genomes]
rs41303687	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41316035	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56310265	0.83[AMR][1000 genomes]
rs62560402	0.81[EUR][1000 genomes]
rs62560403	0.81[EUR][1000 genomes]
rs62560426	0.85[EUR][1000 genomes]
rs62560427	0.86[EUR][1000 genomes]
rs62560428	0.85[EUR][1000 genomes]
rs62560429	0.85[EUR][1000 genomes]
rs62560431	0.86[EUR][1000 genomes]
rs62563562	0.90[EUR][1000 genomes]
rs67330394	0.83[AMR][1000 genomes]
rs67844957	0.85[EUR][1000 genomes]
rs72696420	0.83[EUR][1000 genomes]
rs72696432	0.94[EUR][1000 genomes]
rs72696433	0.90[EUR][1000 genomes]
rs72696445	0.89[EUR][1000 genomes]
rs72696446	0.89[EUR][1000 genomes]
rs72696447	0.89[EUR][1000 genomes]
rs72696449	0.89[EUR][1000 genomes]
rs72696450	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696453	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696455	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696456	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696458	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696459	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696462	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696463	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696465	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696470	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696479	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696480	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696481	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696482	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696485	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696487	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72696488	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696489	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696491	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696494	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696499	0.83[AMR][1000 genomes]
rs72696500	0.83[AMR][1000 genomes]
rs72696501	0.83[AMR][1000 genomes]
rs72696502	0.83[AMR][1000 genomes]
rs72698303	0.83[AMR][1000 genomes]
rs72698305	0.83[AMR][1000 genomes]
rs72698306	0.83[AMR][1000 genomes]
rs72698310	0.83[AMR][1000 genomes]
rs72698311	0.83[AMR][1000 genomes]
rs72698312	0.83[AMR][1000 genomes]
rs72698318	0.83[AMR][1000 genomes]
rs7874465	0.82[EUR][1000 genomes]
rs7874964	0.81[EUR][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	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
5	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
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19051600-19101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:19051800-19089000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:19052400-19077000	Weak transcription	Pancreas	Pancrea
4	chr9:19052800-19092400	Weak transcription	Fetal Brain Male	brain
5	chr9:19054400-19097800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:19054800-19098200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:19054800-19100800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:19055600-19082600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:19055600-19091200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr9:19055800-19079800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:19055800-19085200	Strong transcription	Liver	Liver
12	chr9:19055800-19096800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:19055800-19098200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr9:19056000-19086000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr9:19056000-19091200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr9:19056000-19096400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr9:19056000-19101200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:19056600-19094800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:19056600-19095200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:19056600-19095400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr9:19056600-19096000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr9:19056800-19083000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr9:19056800-19096600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:19057200-19078200	Strong transcription	Primary B cells from cord blood	blood
25	chr9:19057600-19077000	Weak transcription	Esophagus	oesophagus
26	chr9:19060400-19076800	Weak transcription	Brain Substantia Nigra	brain
27	chr9:19061200-19076800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:19062000-19102200	Weak transcription	Stomach Mucosa	stomach
29	chr9:19062800-19079000	Weak transcription	NHLF	lung
30	chr9:19063000-19077000	Weak transcription	Brain Angular Gyrus	brain
31	chr9:19063200-19077000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr9:19066200-19077400	Strong transcription	Dnd41	blood
33	chr9:19066400-19083400	Strong transcription	Placenta	Placenta
34	chr9:19066400-19085600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr9:19066400-19096600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:19066800-19100400	Weak transcription	Fetal Heart	heart
37	chr9:19066800-19100800	Weak transcription	Small Intestine	intestine
38	chr9:19067000-19078400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:19067000-19084800	Weak transcription	Colonic Mucosa	Colon
40	chr9:19067400-19086600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:19068000-19077600	Strong transcription	A549	lung
42	chr9:19068800-19079800	Strong transcription	Fetal Muscle Leg	muscle
43	chr9:19068800-19085400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:19068800-19096800	Strong transcription	Fetal Thymus	thymus
45	chr9:19069800-19076800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:19069800-19080800	Strong transcription	Fetal Lung	lung
47	chr9:19070000-19089400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:19070400-19090600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr9:19071000-19076800	Weak transcription	HSMMtube	muscle
50	chr9:19071000-19077000	Weak transcription	Colon Smooth Muscle	Colon

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