Variant report

Variant	rs759918
Chromosome Location	chr14:81390128-81390129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81388857..81391378-chr14:81393034..81394576,2	K562	blood:
2	chr14:81389769..81391378-chr14:81393076..81395517,2	K562	blood:
3	chr14:81383115..81385804-chr14:81388822..81391574,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10137041	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141970	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10142753	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144692	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1016699	0.86[ASN][1000 genomes]
rs11625199	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11627934	0.83[ASN][1000 genomes]
rs12050342	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12050416	0.85[ASN][1000 genomes]
rs12433134	0.86[ASN][1000 genomes]
rs12434318	0.85[ASN][1000 genomes]
rs12437260	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs170596	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17615020	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863765	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1863766	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2010847	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs228119	0.81[ASN][1000 genomes]
rs228122	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228126	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs228128	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288347	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2371420	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2371421	0.83[ASN][1000 genomes]
rs2371456	0.86[ASN][1000 genomes]
rs2556603	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2556606	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2556607	0.81[ASN][1000 genomes]
rs2556608	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2556610	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2556611	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2556612	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2556614	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2556615	0.81[ASN][1000 genomes]
rs28850656	0.81[ASN][1000 genomes]
rs2888032	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4016442	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899779	0.81[ASN][1000 genomes]
rs4899780	0.85[ASN][1000 genomes]
rs4899781	0.85[ASN][1000 genomes]
rs4903943	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903944	0.81[ASN][1000 genomes]
rs4903945	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4903946	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903947	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58699962	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574606	0.81[ASN][1000 genomes]
rs6574608	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6574609	0.83[ASN][1000 genomes]
rs6574610	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6574611	0.85[ASN][1000 genomes]
rs7140452	0.84[ASN][1000 genomes]
rs7147306	0.84[ASN][1000 genomes]
rs7156306	0.81[ASN][1000 genomes]
rs7157845	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs722906	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7493314	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs759919	0.85[ASN][1000 genomes]
rs8016507	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8017038	0.85[ASN][1000 genomes]
rs8017949	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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	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

No data

Chromatin state (count:53 , 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	chr14:81357800-81392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:81359400-81406000	Weak transcription	A549	lung
5	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:81360200-81393800	Weak transcription	HMEC	breast
8	chr14:81362200-81392600	Weak transcription	NH-A	brain
9	chr14:81362200-81392800	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:81363800-81391200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
13	chr14:81365200-81393000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:81370400-81393600	Weak transcription	NHEK	skin
16	chr14:81371600-81392800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:81372000-81392000	Weak transcription	Fetal Stomach	stomach
18	chr14:81373600-81392600	Weak transcription	Esophagus	oesophagus
19	chr14:81373800-81392200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:81375400-81407600	Weak transcription	Gastric	stomach
21	chr14:81375800-81392800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:81379200-81392400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:81380000-81392600	Weak transcription	Right Ventricle	heart
25	chr14:81380800-81392800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:81382600-81391800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:81382600-81392000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:81382600-81392400	Weak transcription	HSMM	muscle
29	chr14:81382600-81392600	Weak transcription	Left Ventricle	heart
30	chr14:81382600-81393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:81382800-81391800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:81382800-81396000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr14:81382800-81396200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr14:81382800-81396800	Weak transcription	Primary B cells from cord blood	blood
36	chr14:81382800-81397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:81382800-81397200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:81383000-81392200	Weak transcription	Thymus	Thymus
39	chr14:81383400-81393600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:81384600-81392800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:81386800-81392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:81387600-81392000	Strong transcription	Dnd41	blood
43	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:81388200-81393600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:81388400-81390400	Enhancers	Brain Germinal Matrix	brain
46	chr14:81389200-81390400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr14:81389800-81391000	Strong transcription	Fetal Thymus	thymus
48	chr14:81390000-81390400	Weak transcription	Ovary	ovary
49	chr14:81390000-81391200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:81390000-81391200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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