Variant report

Variant	rs72694628
Chromosome Location	chr9:2766253-2766254
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	chr9:2758593..2762360-chr9:2765303..2768910,5	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11788728	1.00[ASN][1000 genomes]
rs11789583	1.00[ASN][1000 genomes]
rs11790283	1.00[ASN][1000 genomes]
rs11791537	1.00[ASN][1000 genomes]
rs11793899	1.00[ASN][1000 genomes]
rs11793901	1.00[ASN][1000 genomes]
rs13283954	1.00[ASN][1000 genomes]
rs1567712	1.00[ASN][1000 genomes]
rs17656379	1.00[ASN][1000 genomes]
rs17712698	1.00[ASN][1000 genomes]
rs1869593	1.00[ASN][1000 genomes]
rs1947447	1.00[ASN][1000 genomes]
rs2889261	1.00[ASN][1000 genomes]
rs33955077	1.00[ASN][1000 genomes]
rs33984475	1.00[ASN][1000 genomes]
rs34318472	1.00[ASN][1000 genomes]
rs34562568	1.00[ASN][1000 genomes]
rs34901137	0.91[AMR][1000 genomes]
rs35030640	0.91[AMR][1000 genomes]
rs35033160	1.00[ASN][1000 genomes]
rs35043989	1.00[ASN][1000 genomes]
rs35075133	1.00[ASN][1000 genomes]
rs35456336	1.00[ASN][1000 genomes]
rs35730767	1.00[ASN][1000 genomes]
rs35769682	1.00[ASN][1000 genomes]
rs35847091	1.00[ASN][1000 genomes]
rs36036004	1.00[ASN][1000 genomes]
rs6144	1.00[ASN][1000 genomes]
rs6145	1.00[ASN][1000 genomes]
rs6148	1.00[ASN][1000 genomes]
rs6475888	1.00[ASN][1000 genomes]
rs7030221	1.00[ASN][1000 genomes]
rs7040916	1.00[ASN][1000 genomes]
rs7045124	1.00[ASN][1000 genomes]
rs7045363	1.00[ASN][1000 genomes]
rs72692565	1.00[ASN][1000 genomes]
rs72692571	1.00[ASN][1000 genomes]
rs72692574	1.00[ASN][1000 genomes]
rs72692579	1.00[ASN][1000 genomes]
rs72692580	1.00[ASN][1000 genomes]
rs8210	1.00[ASN][1000 genomes]
rs970122	1.00[ASN][1000 genomes]
rs970123	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv916750	chr9:2430846-2826706	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv892079	chr9:2681430-2931341	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv531565	chr9:2682523-2784028	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv516425	chr9:2690980-2790307	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv892081	chr9:2691186-2851026	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1032667	chr9:2691667-2788242	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1019973	chr9:2691812-2790419	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv539935	chr9:2691812-2790419	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv892082	chr9:2699606-2833267	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1021572	chr9:2703159-2790123	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1024262	chr9:2703159-3067931	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv1033982	chr9:2724666-2780665	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv539936	chr9:2724666-2780665	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv1023850	chr9:2736931-2790123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv466087	chr9:2746548-2790307	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv613142	chr9:2746548-2790307	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv1028011	chr9:2759097-2904277	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2718000-2772800	Weak transcription	Aorta	Aorta
2	chr9:2719200-2768400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:2719200-2768400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:2723200-2768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:2726200-2768400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:2728200-2768400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:2728600-2768400	Weak transcription	Primary B cells from cord blood	blood
8	chr9:2728600-2772400	Weak transcription	Brain Hippocampus Middle	brain
9	chr9:2729200-2768400	Weak transcription	NHLF	lung
10	chr9:2729200-2768800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:2729600-2768400	Weak transcription	HMEC	breast
12	chr9:2737200-2769400	Weak transcription	Fetal Brain Female	brain
13	chr9:2737200-2777000	Weak transcription	Esophagus	oesophagus
14	chr9:2737800-2768200	Weak transcription	Hela-S3	cervix
15	chr9:2740600-2768400	Weak transcription	Left Ventricle	heart
16	chr9:2745800-2771600	Weak transcription	Brain Anterior Caudate	brain
17	chr9:2746400-2768600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:2746400-2772800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:2746600-2768400	Weak transcription	Lung	lung
20	chr9:2746600-2769600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:2746800-2767800	Weak transcription	NHEK	skin
22	chr9:2746800-2773200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:2747000-2768400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:2747000-2769400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:2747200-2768400	Weak transcription	Fetal Stomach	stomach
26	chr9:2749400-2769200	Weak transcription	NH-A	brain
27	chr9:2752200-2777000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:2752400-2768400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr9:2752400-2768600	Weak transcription	HSMMtube	muscle
30	chr9:2752800-2768400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr9:2755400-2772200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:2755600-2769600	Weak transcription	K562	blood
33	chr9:2758000-2768400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:2759200-2768200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:2759200-2768600	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:2759200-2768600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr9:2759400-2773000	Weak transcription	Fetal Brain Male	brain
38	chr9:2759600-2768400	Weak transcription	Adipose Nuclei	Adipose
39	chr9:2759600-2768800	Weak transcription	NHDF-Ad	bronchial
40	chr9:2759600-2776800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:2759800-2767800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:2759800-2769600	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:2760000-2768200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:2760200-2769800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr9:2760200-2777000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr9:2760600-2773000	Weak transcription	Psoas Muscle	Psoas
47	chr9:2761400-2768400	Weak transcription	HepG2	liver
48	chr9:2761600-2768000	Weak transcription	Osteobl	bone
49	chr9:2761600-2769400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr9:2761800-2768200	Weak transcription	Stomach Mucosa	stomach

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