Variant report

Variant	rs60634548
Chromosome Location	chr15:42605422-42605423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs12437600	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12438240	0.83[EUR][1000 genomes]
rs12438369	0.84[ASN][1000 genomes]
rs12438509	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12440087	1.00[ASN][1000 genomes]
rs12441016	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441642	0.84[ASN][1000 genomes]
rs16972887	1.00[ASN][1000 genomes]
rs16973008	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16973045	0.97[ASN][1000 genomes]
rs16973060	0.94[ASN][1000 genomes]
rs2138831	0.86[ASN][1000 genomes]
rs2407707	0.89[ASN][1000 genomes]
rs2412688	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412709	0.82[AFR][1000 genomes]
rs28364388	0.84[ASN][1000 genomes]
rs28364393	1.00[EUR][1000 genomes]
rs28745877	0.83[EUR][1000 genomes]
rs3736099	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3742996	0.83[EUR][1000 genomes]
rs3743005	0.94[ASN][1000 genomes]
rs3743007	0.94[ASN][1000 genomes]
rs3743008	0.94[ASN][1000 genomes]
rs3825785	0.94[ASN][1000 genomes]
rs4506867	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4923932	0.89[ASN][1000 genomes]
rs4923945	0.94[ASN][1000 genomes]
rs4924627	0.89[ASN][1000 genomes]
rs4924630	0.89[ASN][1000 genomes]
rs4924631	0.86[ASN][1000 genomes]
rs4924644	1.00[ASN][1000 genomes]
rs4924672	0.94[ASN][1000 genomes]
rs4924673	0.94[ASN][1000 genomes]
rs4924674	0.84[ASN][1000 genomes]
rs4924677	0.83[EUR][1000 genomes]
rs4924679	0.83[EUR][1000 genomes]
rs4924682	0.83[EUR][1000 genomes]
rs55671734	0.83[EUR][1000 genomes]
rs55882551	1.00[ASN][1000 genomes]
rs56257215	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56670003	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56702977	0.84[ASN][1000 genomes]
rs56987883	0.94[ASN][1000 genomes]
rs57134130	0.84[ASN][1000 genomes]
rs57393446	0.89[ASN][1000 genomes]
rs57933952	1.00[ASN][1000 genomes]
rs57973092	0.94[ASN][1000 genomes]
rs57976413	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58292736	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58313689	0.92[ASN][1000 genomes]
rs58567518	0.83[EUR][1000 genomes]
rs58712370	0.94[ASN][1000 genomes]
rs59091866	0.83[EUR][1000 genomes]
rs59094161	0.94[ASN][1000 genomes]
rs59132828	0.95[ASN][1000 genomes]
rs59138723	1.00[ASN][1000 genomes]
rs59206762	0.83[EUR][1000 genomes]
rs59320762	0.94[ASN][1000 genomes]
rs59414917	0.83[EUR][1000 genomes]
rs59893734	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59908459	0.83[EUR][1000 genomes]
rs59974698	1.00[ASN][1000 genomes]
rs60328984	0.83[EUR][1000 genomes]
rs60443443	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61069354	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61133768	0.94[ASN][1000 genomes]
rs6493033	1.00[ASN][1000 genomes]
rs7169767	0.83[EUR][1000 genomes]
rs7179203	0.94[ASN][1000 genomes]
rs7180279	0.94[ASN][1000 genomes]
rs7180315	0.83[EUR][1000 genomes]
rs7181979	0.89[ASN][1000 genomes]
rs73398938	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73400993	0.89[ASN][1000 genomes]
rs73402707	0.94[ASN][1000 genomes]
rs73402745	0.83[EUR][1000 genomes]
rs73403365	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407403	0.89[ASN][1000 genomes]
rs73407407	0.89[ASN][1000 genomes]
rs73407488	1.00[ASN][1000 genomes]
rs73409577	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8025601	0.95[ASN][1000 genomes]
rs8027016	1.00[ASN][1000 genomes]
rs8036255	0.83[EUR][1000 genomes]
rs8041951	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42567200-42623600	Weak transcription	Fetal Brain Male	brain
2	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
3	chr15:42568600-42630800	Weak transcription	Dnd41	blood
4	chr15:42573400-42635800	Weak transcription	Gastric	stomach
5	chr15:42573800-42605600	Weak transcription	Pancreas	Pancrea
6	chr15:42576200-42605800	Weak transcription	Esophagus	oesophagus
7	chr15:42576400-42620800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:42577800-42616200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:42582000-42613400	Weak transcription	HUVEC	blood vessel
10	chr15:42585400-42623600	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:42585600-42607600	Weak transcription	NHLF	lung
12	chr15:42586200-42613800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:42593800-42616000	Weak transcription	Hela-S3	cervix
14	chr15:42596800-42609800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:42596800-42625200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:42597000-42614600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:42597800-42621200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:42598600-42606000	Strong transcription	Liver	Liver
19	chr15:42598600-42606600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:42598600-42606600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:42598600-42606800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:42598600-42607000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:42598600-42607600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:42598600-42607800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr15:42598600-42608200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr15:42598600-42610600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr15:42598800-42605800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr15:42598800-42606600	Strong transcription	Ovary	ovary
29	chr15:42599000-42606000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr15:42599000-42606200	Strong transcription	Lung	lung
31	chr15:42599000-42606200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr15:42599000-42606600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:42599000-42606600	Strong transcription	Left Ventricle	heart
34	chr15:42599000-42607000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:42599000-42607200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:42599800-42605600	Strong transcription	Fetal Intestine Large	intestine
37	chr15:42599800-42606800	Strong transcription	Primary T cells from cord blood	blood
38	chr15:42600000-42614000	Weak transcription	Psoas Muscle	Psoas
39	chr15:42600400-42626400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:42600600-42613600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr15:42600600-42627200	Weak transcription	Fetal Brain Female	brain
42	chr15:42600800-42612800	Weak transcription	Thymus	Thymus
43	chr15:42601200-42606600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:42601200-42636000	Weak transcription	Brain Germinal Matrix	brain
45	chr15:42601400-42606800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:42602200-42605600	Weak transcription	Fetal Intestine Small	intestine
47	chr15:42602200-42606000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr15:42603000-42606600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:42603000-42615400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:42603000-42615400	Weak transcription	Fetal Stomach	stomach

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