Variant report

Variant	rs72778437
Chromosome Location	chr10:5325373-5325374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5189042..5190566-chr10:5324451..5326870,2	MCF-7	breast:
2	chr10:5241329..5242148-chr10:5325053..5325709,2	MCF-7	breast:
3	chr10:5308367..5310948-chr10:5323905..5325582,2	K562	blood:
4	chr10:5082340..5083456-chr10:5325202..5326034,4	MCF-7	breast:
5	chr10:5131798..5132693-chr10:5325154..5326138,5	MCF-7	breast:
6	chr10:5024232..5024860-chr10:5325292..5325936,2	K562	blood:
7	chr10:4856147..4859117-chr10:5323721..5326556,2	K562	blood:
8	chr10:4891638..4892533-chr10:5325193..5326077,4	MCF-7	breast:
9	chr10:4891547..4892555-chr10:5325301..5326118,4	MCF-7	breast:

No data

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs11253051	1.00[ASN][1000 genomes]
rs11253052	1.00[ASN][1000 genomes]
rs11253053	1.00[ASN][1000 genomes]
rs11253054	1.00[ASN][1000 genomes]
rs11253056	1.00[ASN][1000 genomes]
rs11253057	1.00[ASN][1000 genomes]
rs11253058	1.00[ASN][1000 genomes]
rs11253059	1.00[ASN][1000 genomes]
rs11253060	1.00[ASN][1000 genomes]
rs11253066	1.00[ASN][1000 genomes]
rs11253067	1.00[ASN][1000 genomes]
rs11591916	1.00[ASN][1000 genomes]
rs11592046	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11592833	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594521	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11595029	0.83[ASN][1000 genomes]
rs11595482	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11595920	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597152	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597641	1.00[ASN][1000 genomes]
rs11597812	1.00[ASN][1000 genomes]
rs11597910	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598244	1.00[ASN][1000 genomes]
rs11599365	0.87[AMR][1000 genomes]
rs11599367	0.83[ASN][1000 genomes]
rs11599875	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11814640	1.00[ASN][1000 genomes]
rs12240608	1.00[ASN][1000 genomes]
rs12243692	1.00[ASN][1000 genomes]
rs12245676	1.00[ASN][1000 genomes]
rs12245742	1.00[ASN][1000 genomes]
rs12249368	1.00[ASN][1000 genomes]
rs12258997	1.00[ASN][1000 genomes]
rs12260226	1.00[ASN][1000 genomes]
rs12265359	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12265975	1.00[ASN][1000 genomes]
rs12266035	0.86[ASN][1000 genomes]
rs12784633	1.00[ASN][1000 genomes]
rs17134652	1.00[ASN][1000 genomes]
rs17134654	1.00[ASN][1000 genomes]
rs1931671	1.00[ASN][1000 genomes]
rs1931673	1.00[ASN][1000 genomes]
rs1931676	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931677	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2398152	1.00[ASN][1000 genomes]
rs2398184	1.00[ASN][1000 genomes]
rs2398185	1.00[ASN][1000 genomes]
rs2895056	1.00[ASN][1000 genomes]
rs34524110	1.00[ASN][1000 genomes]
rs34551905	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34582570	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34820657	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34843899	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34960702	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35036396	1.00[ASN][1000 genomes]
rs35266926	1.00[ASN][1000 genomes]
rs35380685	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35814115	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35850551	1.00[ASN][1000 genomes]
rs35891495	1.00[ASN][1000 genomes]
rs35934477	1.00[ASN][1000 genomes]
rs3996537	1.00[ASN][1000 genomes]
rs4424568	1.00[ASN][1000 genomes]
rs4881420	1.00[ASN][1000 genomes]
rs55644808	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55661634	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55743334	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56080597	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095117	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56107516	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56138307	1.00[ASN][1000 genomes]
rs56211970	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56223986	1.00[ASN][1000 genomes]
rs56264219	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347435	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403685	1.00[ASN][1000 genomes]
rs56409515	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59227936	1.00[ASN][1000 genomes]
rs59389170	1.00[ASN][1000 genomes]
rs61690028	1.00[ASN][1000 genomes]
rs6601934	1.00[ASN][1000 genomes]
rs66668806	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67406543	1.00[ASN][1000 genomes]
rs67717827	1.00[ASN][1000 genomes]
rs7075810	1.00[ASN][1000 genomes]
rs7100649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774251	1.00[ASN][1000 genomes]
rs72774259	1.00[ASN][1000 genomes]
rs72774260	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774265	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774268	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774270	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774271	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774272	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774273	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774276	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774277	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774278	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774279	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774280	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774288	1.00[ASN][1000 genomes]
rs72774291	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774295	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774297	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774299	1.00[ASN][1000 genomes]
rs72774301	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774302	1.00[ASN][1000 genomes]
rs72778420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72778422	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7896353	1.00[ASN][1000 genomes]
rs7903794	1.00[ASN][1000 genomes]
rs7904988	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	24 gene(s)	inside rSNPs	diseases
4	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv466715	chr10:5285597-5348491	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv466717	chr10:5285597-5348491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv549888	chr10:5285597-5348491	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv894795	chr10:5286600-5348491	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv894796	chr10:5300976-5348491	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5306400-5325600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:5306800-5325400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:5308600-5325400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr10:5314600-5325400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:5317600-5326200	Weak transcription	Dnd41	blood
6	chr10:5321800-5325800	Weak transcription	NHLF	lung
7	chr10:5324200-5326000	Enhancers	Esophagus	oesophagus
8	chr10:5324200-5326000	Enhancers	Stomach Mucosa	stomach
9	chr10:5324200-5326600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:5324200-5326800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:5324400-5325400	Weak transcription	NHEK	skin
12	chr10:5324400-5326000	Enhancers	HepG2	liver
13	chr10:5324400-5326200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr10:5324400-5327400	Enhancers	Primary hematopoietic stem cells	blood
15	chr10:5324600-5325800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:5324600-5326000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr10:5324600-5326000	Enhancers	Liver	Liver
18	chr10:5324600-5326400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:5324600-5326800	Enhancers	Fetal Thymus	thymus
20	chr10:5324800-5325800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:5324800-5325800	Weak transcription	Lung	lung
22	chr10:5325000-5325800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:5325000-5325800	Enhancers	Duodenum Mucosa	Duodenum
24	chr10:5325000-5327000	Flanking Active TSS	A549	lung
25	chr10:5325200-5325400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr10:5325200-5325400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr10:5325200-5325600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr10:5325200-5325600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:5325200-5325800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr10:5325200-5325800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr10:5325200-5325800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:5325200-5325800	Enhancers	K562	blood
33	chr10:5325200-5326600	Enhancers	HMEC	breast
34	chr10:5325200-5326800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr10:5325200-5326800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr10:5325200-5326800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr10:5325200-5326800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:5325200-5326800	Enhancers	Adipose Nuclei	Adipose
39	chr10:5325200-5327000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr10:5325200-5327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:5325200-5327600	Enhancers	Primary monocytes fromperipheralblood	blood

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