Variant report

Variant	rs11158502
Chromosome Location	chr14:64173850-64173851
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	chr14:64106542..64108580-chr14:64173095..64174620,2	K562	blood:

Variant related genes	Relation type
ENSG00000140006	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10498511	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158503	1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158504	0.88[EUR][1000 genomes]
rs11158506	1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844499	0.92[EUR][1000 genomes]
rs11845405	1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes]
rs11845471	0.88[EUR][1000 genomes]
rs11845765	1.00[GIH][hapmap];0.88[EUR][1000 genomes]
rs11846081	0.84[EUR][1000 genomes]
rs11847188	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847332	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849082	0.88[EUR][1000 genomes]
rs17101346	1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101348	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17101355	0.84[EUR][1000 genomes]
rs17101371	1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101374	1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs2031940	1.00[JPT][hapmap]
rs2031941	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742622	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346121	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55665448	0.84[EUR][1000 genomes]
rs55706628	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55797516	0.84[EUR][1000 genomes]
rs55874427	0.84[EUR][1000 genomes]
rs55919053	0.88[EUR][1000 genomes]
rs56015314	0.84[EUR][1000 genomes]
rs56051693	0.88[EUR][1000 genomes]
rs56094435	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105514	0.88[EUR][1000 genomes]
rs56113838	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56247501	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280069	0.88[EUR][1000 genomes]
rs56342043	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388534	0.88[EUR][1000 genomes]
rs56858295	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56973820	0.84[EUR][1000 genomes]
rs61985669	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985670	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985671	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985672	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985674	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985677	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61985680	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61985681	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61985682	0.84[EUR][1000 genomes]
rs61985687	0.84[EUR][1000 genomes]
rs61985689	0.84[EUR][1000 genomes]
rs61985690	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573528	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573529	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7141460	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7142737	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145740	0.82[MEX][hapmap]
rs7148755	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7149625	1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154057	1.00[JPT][hapmap]
rs7154718	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154795	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7154883	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155351	1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156219	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7156468	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157815	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263634	0.84[EUR][1000 genomes]
rs73263671	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73265705	0.84[EUR][1000 genomes]
rs73265710	1.00[ASN][1000 genomes]
rs73265719	0.88[EUR][1000 genomes]
rs73265728	1.00[ASN][1000 genomes]
rs73265743	0.88[EUR][1000 genomes]
rs73267621	0.92[EUR][1000 genomes]
rs8003077	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs8003101	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003314	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006901	0.92[EUR][1000 genomes]
rs8010642	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012866	1.00[JPT][hapmap]
rs8013242	0.84[EUR][1000 genomes]
rs8017835	1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs8018034	1.00[ASN][1000 genomes]
rs8018194	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018382	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018872	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019280	1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs8020831	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs8020833	0.84[EUR][1000 genomes]
rs8020893	1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs9671362	0.84[AMR][1000 genomes];0.84[EUR][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	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	67 gene(s)	inside rSNPs	diseases
2	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1037824	chr14:64119493-64254025	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1044325	chr14:64142976-64201537	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3432445	chr14:64162248-64191918	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64109000-64183800	Weak transcription	Spleen	Spleen
2	chr14:64130800-64192600	Weak transcription	Right Ventricle	heart
3	chr14:64137600-64180400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:64137800-64177000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:64139800-64178200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:64143200-64180600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:64143800-64182200	Weak transcription	Fetal Lung	lung
8	chr14:64143800-64182200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:64145200-64182000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:64145200-64182200	Weak transcription	Thymus	Thymus
11	chr14:64145200-64184600	Weak transcription	Left Ventricle	heart
12	chr14:64145200-64192600	Weak transcription	HSMM	muscle
13	chr14:64145800-64179800	Weak transcription	Hela-S3	cervix
14	chr14:64153200-64184000	Weak transcription	Liver	Liver
15	chr14:64153400-64174200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:64153400-64182200	Weak transcription	Adipose Nuclei	Adipose
17	chr14:64153400-64182200	Weak transcription	Dnd41	blood
18	chr14:64154200-64179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:64154800-64184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:64157600-64178200	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:64161000-64178400	Weak transcription	Ovary	ovary
22	chr14:64161200-64178400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:64163000-64179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:64163000-64180600	Weak transcription	Fetal Stomach	stomach
25	chr14:64166200-64183600	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:64168400-64178600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:64168400-64180600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:64169000-64175800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:64169000-64176000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:64169000-64176200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:64169000-64177200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:64169000-64180000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:64169200-64176400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:64169200-64179800	Weak transcription	K562	blood
35	chr14:64169400-64176800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:64169800-64175800	Weak transcription	Primary T cells from cord blood	blood
37	chr14:64169800-64178400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:64169800-64184000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:64170000-64175400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:64170600-64176000	Enhancers	Primary B cells from peripheral blood	blood
41	chr14:64171000-64175400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:64172600-64183600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr14:64173000-64182400	Weak transcription	Fetal Brain Male	brain
44	chr14:64173200-64174400	Enhancers	NHEK	skin
45	chr14:64173400-64174200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:64173400-64176600	Weak transcription	Primary B cells from cord blood	blood
47	chr14:64173600-64174000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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