Variant report

Variant	rs28364540
Chromosome Location	chr15:42703353-42703354
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs11070367	1.00[EUR][1000 genomes]
rs11070371	1.00[EUR][1000 genomes]
rs11633276	1.00[EUR][1000 genomes]
rs11856807	1.00[EUR][1000 genomes]
rs12102204	1.00[EUR][1000 genomes]
rs12324205	0.88[ASN][1000 genomes]
rs12593511	1.00[EUR][1000 genomes]
rs12902924	1.00[EUR][1000 genomes]
rs12911561	1.00[EUR][1000 genomes]
rs1659214	1.00[EUR][1000 genomes]
rs1659216	1.00[EUR][1000 genomes]
rs1659220	1.00[EUR][1000 genomes]
rs1659223	1.00[EUR][1000 genomes]
rs1659225	1.00[EUR][1000 genomes]
rs1871156	1.00[EUR][1000 genomes]
rs2244773	1.00[EUR][1000 genomes]
rs2289293	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289297	1.00[EUR][1000 genomes]
rs2412675	1.00[EUR][1000 genomes]
rs2412676	1.00[EUR][1000 genomes]
rs2412678	1.00[EUR][1000 genomes]
rs2412683	1.00[EUR][1000 genomes]
rs2412684	1.00[EUR][1000 genomes]
rs2412689	1.00[EUR][1000 genomes]
rs2412694	1.00[EUR][1000 genomes]
rs2412695	1.00[EUR][1000 genomes]
rs2412716	1.00[EUR][1000 genomes]
rs2578651	1.00[EUR][1000 genomes]
rs2595935	1.00[EUR][1000 genomes]
rs2620372	1.00[EUR][1000 genomes]
rs28364379	1.00[EUR][1000 genomes]
rs28364398	1.00[EUR][1000 genomes]
rs28364400	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28364462	1.00[EUR][1000 genomes]
rs28364472	1.00[EUR][1000 genomes]
rs28364475	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28364491	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28364495	1.00[EUR][1000 genomes]
rs28364498	1.00[EUR][1000 genomes]
rs28364500	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28364503	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28364504	1.00[EUR][1000 genomes]
rs28364507	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28364509	1.00[EUR][1000 genomes]
rs28364511	1.00[EUR][1000 genomes]
rs28364519	1.00[EUR][1000 genomes]
rs28364522	1.00[EUR][1000 genomes]
rs28364523	1.00[EUR][1000 genomes]
rs28364524	1.00[EUR][1000 genomes]
rs28364526	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28364536	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28364541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364557	1.00[EUR][1000 genomes]
rs28489155	1.00[EUR][1000 genomes]
rs28621687	1.00[EUR][1000 genomes]
rs28745879	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2899044	1.00[EUR][1000 genomes]
rs2899058	1.00[EUR][1000 genomes]
rs3743002	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3803342	1.00[EUR][1000 genomes]
rs4556762	1.00[EUR][1000 genomes]
rs4923936	1.00[EUR][1000 genomes]
rs4923937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4923939	1.00[EUR][1000 genomes]
rs4924640	1.00[EUR][1000 genomes]
rs4924641	1.00[EUR][1000 genomes]
rs4924642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924643	1.00[EUR][1000 genomes]
rs4924649	1.00[EUR][1000 genomes]
rs4924657	1.00[EUR][1000 genomes]
rs4924670	1.00[EUR][1000 genomes]
rs5028173	1.00[EUR][1000 genomes]
rs5029919	0.88[ASN][1000 genomes]
rs6493024	1.00[EUR][1000 genomes]
rs6493026	1.00[EUR][1000 genomes]
rs6493031	1.00[EUR][1000 genomes]
rs6493034	1.00[EUR][1000 genomes]
rs6493038	1.00[EUR][1000 genomes]
rs6493041	1.00[EUR][1000 genomes]
rs6493047	1.00[EUR][1000 genomes]
rs6493051	1.00[EUR][1000 genomes]
rs67384392	1.00[EUR][1000 genomes]
rs7161982	1.00[EUR][1000 genomes]
rs7164196	1.00[EUR][1000 genomes]
rs7164484	1.00[EUR][1000 genomes]
rs7169553	1.00[EUR][1000 genomes]
rs7170943	1.00[EUR][1000 genomes]
rs7177193	1.00[EUR][1000 genomes]
rs7177463	1.00[EUR][1000 genomes]
rs7177521	1.00[EUR][1000 genomes]
rs7178396	1.00[EUR][1000 genomes]
rs7181940	1.00[EUR][1000 genomes]
rs7182777	1.00[EUR][1000 genomes]
rs7183399	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7183843	1.00[EUR][1000 genomes]
rs8023568	1.00[EUR][1000 genomes]
rs8023678	1.00[EUR][1000 genomes]
rs8036149	1.00[EUR][1000 genomes]
rs8036163	1.00[EUR][1000 genomes]
rs8040720	1.00[EUR][1000 genomes]
rs8042603	1.00[EUR][1000 genomes]
rs8043033	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs936603	1.00[EUR][1000 genomes]
rs9920851	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription 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	28 gene(s)	inside rSNPs	diseases
6	nsv932995	chr15:42640015-42704121	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42678600-42706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:42679000-42706800	Weak transcription	Right Atrium	heart
3	chr15:42683800-42704600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr15:42689000-42712400	Weak transcription	Fetal Brain Male	brain
5	chr15:42689800-42706600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:42692600-42708400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:42694200-42704000	Weak transcription	Small Intestine	intestine
8	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr15:42694800-42706800	Weak transcription	GM12878-XiMat	blood
10	chr15:42694800-42708400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:42695000-42704000	Weak transcription	HUVEC	blood vessel
12	chr15:42695000-42716000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:42695400-42706200	Weak transcription	NH-A	brain
14	chr15:42697000-42706400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:42697000-42708400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:42697200-42707800	Weak transcription	K562	blood
17	chr15:42698400-42704000	Weak transcription	HMEC	breast
18	chr15:42698400-42705600	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr15:42698400-42707000	Weak transcription	Hela-S3	cervix
20	chr15:42698400-42708400	Weak transcription	Fetal Kidney	kidney
21	chr15:42698600-42704400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:42698600-42738400	Strong transcription	Fetal Muscle Leg	muscle
23	chr15:42698800-42705200	Strong transcription	Fetal Stomach	stomach
24	chr15:42699000-42704000	Weak transcription	Fetal Thymus	thymus
25	chr15:42699200-42705000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:42699200-42741600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr15:42700000-42732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:42700200-42713600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:42700400-42704400	Weak transcription	Fetal Heart	heart
30	chr15:42700600-42705000	Strong transcription	Lung	lung
31	chr15:42700600-42710200	Strong transcription	Brain Anterior Caudate	brain
32	chr15:42700800-42708200	Weak transcription	Stomach Mucosa	stomach
33	chr15:42700800-42732000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:42700800-42747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:42701000-42719200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:42701000-42738800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:42701200-42704000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:42701200-42705000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:42701200-42705000	Strong transcription	Fetal Intestine Small	intestine
40	chr15:42701200-42705000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:42701200-42705000	Strong transcription	Spleen	Spleen
42	chr15:42701200-42766600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr15:42701400-42704600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:42701400-42710200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr15:42701400-42710200	Strong transcription	Brain Hippocampus Middle	brain
46	chr15:42701400-42710200	Strong transcription	Brain Substantia Nigra	brain
47	chr15:42701400-42732600	Strong transcription	Adipose Nuclei	Adipose
48	chr15:42701600-42704000	Weak transcription	Fetal Lung	lung
49	chr15:42701600-42705000	Strong transcription	Fetal Brain Female	brain
50	chr15:42701600-42744200	Strong transcription	Stomach Smooth Muscle	stomach

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