Variant report

Variant	rs1025252
Chromosome Location	chr14:81389135-81389136
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10132220	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10132871	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs1013890	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10140915	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10150391	0.93[ASN][1000 genomes]
rs10151557	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12100564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12101029	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12588767	1.00[JPT][hapmap]
rs17615156	1.00[ASN][1000 genomes]
rs2195101	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs2217175	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28455637	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28787628	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56991751	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57742095	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60659347	0.93[ASN][1000 genomes]
rs7144634	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7160694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs73340189	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73340195	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73340197	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73340199	0.93[ASN][1000 genomes]
rs73342124	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73342126	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73342192	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73342556	0.86[ASN][1000 genomes]
rs73344010	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73344013	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73344625	0.86[ASN][1000 genomes]
rs8003193	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8021757	0.97[AMR][1000 genomes];1.00[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	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:54 , 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	chr14:81359200-81389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:81359400-81406000	Weak transcription	A549	lung
6	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:81360200-81393800	Weak transcription	HMEC	breast
9	chr14:81362200-81392600	Weak transcription	NH-A	brain
10	chr14:81362200-81392800	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:81363800-81391200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
14	chr14:81365200-81393000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:81369400-81389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:81370400-81393600	Weak transcription	NHEK	skin
18	chr14:81371600-81392800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:81372000-81392000	Weak transcription	Fetal Stomach	stomach
20	chr14:81373600-81392600	Weak transcription	Esophagus	oesophagus
21	chr14:81373800-81392200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:81375400-81407600	Weak transcription	Gastric	stomach
23	chr14:81375800-81392800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:81378800-81389200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:81379200-81392400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:81380000-81392600	Weak transcription	Right Ventricle	heart
28	chr14:81380800-81389800	Weak transcription	Ovary	ovary
29	chr14:81380800-81392800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:81382600-81389800	Weak transcription	Fetal Brain Female	brain
31	chr14:81382600-81391800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:81382600-81392000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:81382600-81392400	Weak transcription	HSMM	muscle
34	chr14:81382600-81392600	Weak transcription	Left Ventricle	heart
35	chr14:81382600-81393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:81382800-81389200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:81382800-81391800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:81382800-81396000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr14:81382800-81396200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr14:81382800-81396800	Weak transcription	Primary B cells from cord blood	blood
42	chr14:81382800-81397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:81382800-81397200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:81383000-81389200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:81383000-81389800	Weak transcription	Fetal Thymus	thymus
46	chr14:81383000-81392200	Weak transcription	Thymus	Thymus
47	chr14:81383400-81393600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:81384600-81389600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:81384600-81392800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:81386800-81392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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