Variant report

Variant	rs1115068
Chromosome Location	chr5:5456161-5456162
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1004263	0.80[EUR][1000 genomes]
rs10063885	0.80[EUR][1000 genomes]
rs12653733	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1541799	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2560297	0.84[EUR][1000 genomes]
rs2560298	0.83[EUR][1000 genomes]
rs2560299	0.83[EUR][1000 genomes]
rs2560300	0.83[EUR][1000 genomes]
rs2578500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2578501	0.87[EUR][1000 genomes]
rs2578548	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2578549	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs2578550	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2578552	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2578553	0.84[EUR][1000 genomes]
rs2578554	0.84[EUR][1000 genomes]
rs2578556	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2578557	0.82[EUR][1000 genomes]
rs2578558	0.81[EUR][1000 genomes]
rs2578559	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2578564	0.85[EUR][1000 genomes]
rs2578565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2619827	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619844	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918253	0.83[EUR][1000 genomes]
rs2918260	0.84[EUR][1000 genomes]
rs2918261	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2964131	0.82[EUR][1000 genomes]
rs2964155	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2964159	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2964160	0.84[EUR][1000 genomes]
rs3097160	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3098377	0.84[EUR][1000 genomes]
rs61063822	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6894118	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 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	chr5:5430200-5478800	Weak transcription	Stomach Mucosa	stomach
2	chr5:5430800-5460800	Weak transcription	Fetal Heart	heart
3	chr5:5433200-5456800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:5433400-5495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:5434000-5460000	Weak transcription	Psoas Muscle	Psoas
6	chr5:5436600-5468400	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:5436600-5470600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:5436600-5471400	Strong transcription	Hela-S3	cervix
9	chr5:5436600-5478200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:5436800-5470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:5436800-5470600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr5:5437200-5470600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:5437200-5477000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:5437400-5470800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:5437400-5480000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:5437600-5470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:5437800-5470600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:5439600-5470600	Strong transcription	Dnd41	blood
19	chr5:5440000-5470600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr5:5440600-5456800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:5440800-5460200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:5440800-5471600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:5441200-5468800	Strong transcription	Liver	Liver
24	chr5:5441400-5468400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:5441400-5468800	Strong transcription	Adipose Nuclei	Adipose
26	chr5:5441400-5469000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:5441400-5470400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:5441600-5459600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:5441600-5465200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr5:5441600-5468800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:5441600-5469000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr5:5441600-5470600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:5442400-5475800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:5445000-5457800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr5:5445200-5457000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:5445200-5457400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:5446600-5457000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:5446600-5457000	Weak transcription	Pancreas	Pancrea
39	chr5:5446600-5457000	Weak transcription	Spleen	Spleen
40	chr5:5446600-5457600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:5446600-5458400	Weak transcription	Esophagus	oesophagus
42	chr5:5446600-5458400	Weak transcription	Gastric	stomach
43	chr5:5446800-5457000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:5446800-5467000	Strong transcription	NH-A	brain
45	chr5:5447000-5457000	Weak transcription	Fetal Intestine Small	intestine
46	chr5:5447800-5457000	Weak transcription	Right Ventricle	heart
47	chr5:5448800-5470400	Strong transcription	Primary B cells from cord blood	blood
48	chr5:5449200-5457000	Weak transcription	Colonic Mucosa	Colon
49	chr5:5449800-5461000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:5450000-5456600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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