Variant report

Variant	rs72696479
Chromosome Location	chr9:19093526-19093527
allele	A/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	chr9:19093525-19093592	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
HAUS6	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11787990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11788085	0.86[EUR][1000 genomes]
rs11788588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11788977	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11789049	0.81[EUR][1000 genomes]
rs11789469	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11790182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11791226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11791674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11791698	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11792293	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11792398	0.81[EUR][1000 genomes]
rs11793228	1.00[AMR][1000 genomes]
rs11793687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11795205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11795374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16937266	0.81[EUR][1000 genomes]
rs16937284	0.86[EUR][1000 genomes]
rs17236531	0.86[EUR][1000 genomes]
rs2229536	1.00[AMR][1000 genomes]
rs34387057	0.81[EUR][1000 genomes]
rs35004770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35568725	1.00[AMR][1000 genomes]
rs41269003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41269015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41303687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41316035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56310265	1.00[AMR][1000 genomes]
rs62560426	0.81[EUR][1000 genomes]
rs62560427	0.83[EUR][1000 genomes]
rs62560428	0.81[EUR][1000 genomes]
rs62560429	0.81[EUR][1000 genomes]
rs62560431	0.83[EUR][1000 genomes]
rs62563562	0.86[EUR][1000 genomes]
rs67330394	1.00[AMR][1000 genomes]
rs67844957	0.81[EUR][1000 genomes]
rs72696432	0.90[EUR][1000 genomes]
rs72696433	0.86[EUR][1000 genomes]
rs72696445	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696446	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696447	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696449	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696462	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696463	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696469	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696470	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72696488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72698303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72698305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72698306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72698310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72698311	1.00[AMR][1000 genomes]
rs72698312	1.00[AMR][1000 genomes]
rs72698318	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	esv2764156	chr9:19076894-19097008	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr9:19054400-19097800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr9:19054800-19098200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:19054800-19100800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:19055800-19096800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:19055800-19098200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:19056000-19096400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr9:19056000-19101200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:19056600-19094800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:19056600-19095200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:19056600-19095400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:19056600-19096000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr9:19056800-19096600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:19062000-19102200	Weak transcription	Stomach Mucosa	stomach
15	chr9:19066400-19096600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:19066800-19100400	Weak transcription	Fetal Heart	heart
17	chr9:19066800-19100800	Weak transcription	Small Intestine	intestine
18	chr9:19068800-19096800	Strong transcription	Fetal Thymus	thymus
19	chr9:19071200-19101200	Weak transcription	Psoas Muscle	Psoas
20	chr9:19073600-19098400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:19074400-19094200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr9:19074400-19094600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:19077400-19102200	Weak transcription	Gastric	stomach
24	chr9:19079200-19099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:19079400-19096400	Strong transcription	Dnd41	blood
26	chr9:19079600-19101200	Weak transcription	Ovary	ovary
27	chr9:19081400-19094800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr9:19081400-19097200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:19083800-19094800	Strong transcription	Placenta	Placenta
30	chr9:19083800-19096200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr9:19084000-19096400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr9:19084200-19094800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr9:19084800-19094200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:19084800-19094800	Strong transcription	Brain Germinal Matrix	brain
35	chr9:19084800-19094800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:19085000-19096600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr9:19085000-19096800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:19085400-19101200	Weak transcription	Colonic Mucosa	Colon
39	chr9:19085600-19094600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:19086000-19093800	Strong transcription	Left Ventricle	heart
41	chr9:19086000-19096400	Strong transcription	Liver	Liver
42	chr9:19086000-19096600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr9:19086200-19094800	Strong transcription	Thymus	Thymus
44	chr9:19086200-19095400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr9:19086400-19096800	Strong transcription	Fetal Intestine Large	intestine
46	chr9:19086600-19094600	Strong transcription	Fetal Lung	lung
47	chr9:19086600-19094600	Strong transcription	GM12878-XiMat	blood
48	chr9:19086600-19095000	Strong transcription	Primary B cells from cord blood	blood
49	chr9:19086600-19102200	Weak transcription	Aorta	Aorta
50	chr9:19086800-19096000	Strong transcription	Primary T cells fromperipheralblood	blood

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