Variant report

Variant	rs60407794
Chromosome Location	chr14:81394116-81394117
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	chr14:81389769..81391378-chr14:81393076..81395517,2	K562	blood:
2	chr14:81388857..81391378-chr14:81393034..81394576,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10132871	0.89[ASN][1000 genomes]
rs11159475	0.85[AMR][1000 genomes]
rs11159476	0.85[AMR][1000 genomes]
rs12147014	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12147744	0.96[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12586162	0.83[AMR][1000 genomes]
rs12586908	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12587068	0.89[AMR][1000 genomes]
rs12587210	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12587246	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12587367	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12587373	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12587844	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12587883	0.86[ASN][1000 genomes]
rs12588075	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12588758	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12589266	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12589927	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12589935	0.85[AMR][1000 genomes]
rs12590770	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12878167	0.89[ASN][1000 genomes]
rs12878621	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12880008	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12884630	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12885049	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12885819	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12892149	0.85[AMR][1000 genomes]
rs12897928	0.83[AMR][1000 genomes]
rs1458992	0.85[AMR][1000 genomes]
rs17094159	0.85[AMR][1000 genomes]
rs17111143	0.83[AMR][1000 genomes]
rs17111144	0.85[AMR][1000 genomes]
rs17111149	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17111165	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17111167	0.85[AMR][1000 genomes]
rs2021815	0.85[AMR][1000 genomes]
rs2077532	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2195101	0.89[ASN][1000 genomes]
rs2371417	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2888031	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34144142	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34232168	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34264363	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34296139	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34465155	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34563443	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34611247	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34868228	0.96[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35298517	0.86[ASN][1000 genomes]
rs35380298	0.85[AMR][1000 genomes]
rs35728625	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35765671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35847336	0.86[ASN][1000 genomes]
rs3742720	0.84[ASN][1000 genomes]
rs3861639	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55634365	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55859624	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56757452	0.89[ASN][1000 genomes]
rs58078360	0.86[ASN][1000 genomes]
rs66586819	0.85[AMR][1000 genomes]
rs66748940	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71416850	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:81359400-81406000	Weak transcription	A549	lung
4	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
8	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:81375400-81407600	Weak transcription	Gastric	stomach
10	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:81382800-81396000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:81382800-81396200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:81382800-81396800	Weak transcription	Primary B cells from cord blood	blood
15	chr14:81382800-81397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:81382800-81397200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:81392000-81394200	Genic enhancers	Dnd41	blood
21	chr14:81392200-81394200	Strong transcription	Thymus	Thymus
22	chr14:81392200-81394400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:81392600-81394200	Enhancers	Fetal Muscle Trunk	muscle
26	chr14:81392600-81394200	Enhancers	Osteobl	bone
27	chr14:81392600-81394400	Enhancers	Fetal Heart	heart
28	chr14:81392600-81396400	Weak transcription	Spleen	Spleen
29	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
31	chr14:81392800-81394200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:81392800-81394200	Enhancers	NHDF-Ad	bronchial
33	chr14:81392800-81394400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr14:81392800-81396200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
36	chr14:81393000-81395800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:81393000-81407600	Weak transcription	Lung	lung
38	chr14:81393200-81394200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:81393200-81394200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:81393400-81394200	Flanking Active TSS	HSMM	muscle
41	chr14:81393600-81394400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:81393600-81394400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:81393600-81394600	Enhancers	NHEK	skin
44	chr14:81393600-81396200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:81393600-81397400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:81393600-81399400	Weak transcription	Right Atrium	heart
47	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:81393800-81394400	Enhancers	HMEC	breast
49	chr14:81393800-81396600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:81393800-81397000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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