Variant report

Variant	rs72696491
Chromosome Location	chr9:19096979-19096980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:19095545..19097905-chr9:19098403..19100459,2	K562	blood:
2	chr9:19084171..19086878-chr9:19096097..19098538,2	K562	blood:
3	chr9:19095602..19097894-chr9:19377705..19380132,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11787990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11788085	0.86[EUR][1000 genomes]
rs11788588	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11791226	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11791674	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11791698	0.83[AMR][1000 genomes]
rs11792293	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[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[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41269015	1.00[AMR][1000 genomes]
rs41303687	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41316035	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	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696446	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696447	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696449	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72696450	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696453	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696455	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696456	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696458	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72696459	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[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]
rs72696479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696487	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72696488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696499	1.00[AMR][1000 genomes]
rs72696500	1.00[AMR][1000 genomes]
rs72696501	1.00[AMR][1000 genomes]
rs72696502	1.00[AMR][1000 genomes]
rs72698303	1.00[AMR][1000 genomes]
rs72698305	1.00[AMR][1000 genomes]
rs72698306	1.00[AMR][1000 genomes]
rs72698310	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:9 , 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
9	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 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	chr9:19055800-19098200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:19056000-19101200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:19062000-19102200	Weak transcription	Stomach Mucosa	stomach
8	chr9:19066800-19100400	Weak transcription	Fetal Heart	heart
9	chr9:19066800-19100800	Weak transcription	Small Intestine	intestine
10	chr9:19071200-19101200	Weak transcription	Psoas Muscle	Psoas
11	chr9:19073600-19098400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:19077400-19102200	Weak transcription	Gastric	stomach
13	chr9:19079200-19099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:19079600-19101200	Weak transcription	Ovary	ovary
15	chr9:19081400-19097200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:19085400-19101200	Weak transcription	Colonic Mucosa	Colon
17	chr9:19086600-19102200	Weak transcription	Aorta	Aorta
18	chr9:19089600-19097000	Strong transcription	HUVEC	blood vessel
19	chr9:19089600-19102000	Weak transcription	HSMMtube	muscle
20	chr9:19089800-19101800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:19090000-19101200	Weak transcription	Right Atrium	heart
22	chr9:19090200-19101200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:19091200-19101200	Weak transcription	Esophagus	oesophagus
24	chr9:19091600-19097000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr9:19091600-19097000	Strong transcription	NHDF-Ad	bronchial
26	chr9:19091600-19099600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:19091600-19102000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:19091800-19100800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:19091800-19102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:19092400-19100200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:19092400-19100800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:19092400-19101200	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:19092400-19101200	Weak transcription	Fetal Brain Female	brain
34	chr9:19092600-19100800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr9:19093200-19097200	Strong transcription	A549	lung
36	chr9:19093400-19100800	Weak transcription	Fetal Brain Male	brain
37	chr9:19093600-19100200	Weak transcription	K562	blood
38	chr9:19093600-19100400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:19093600-19100400	Weak transcription	NHEK	skin
40	chr9:19093800-19100600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:19093800-19101200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:19093800-19101200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:19093800-19101200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:19093800-19101200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:19093800-19101200	Weak transcription	Left Ventricle	heart
46	chr9:19093800-19101200	Weak transcription	Lung	lung
47	chr9:19093800-19101200	Weak transcription	Pancreas	Pancrea
48	chr9:19093800-19101200	Weak transcription	Right Ventricle	heart
49	chr9:19093800-19101200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:19093800-19101200	Weak transcription	Spleen	Spleen

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