Variant report

Variant	rs12884259
Chromosome Location	chr14:64337830-64337831
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10140978	0.82[CEU][hapmap]
rs1255968	0.82[CEU][hapmap]
rs12879641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880477	0.97[ASN][1000 genomes]
rs12881241	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882972	1.00[ASN][1000 genomes]
rs12883728	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887573	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889107	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12889504	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894035	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894619	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896216	0.97[ASN][1000 genomes]
rs12898127	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101419	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17101437	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17225497	0.97[ASN][1000 genomes]
rs1890908	0.82[CEU][hapmap]
rs1959033	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356994	0.97[ASN][1000 genomes]
rs34252863	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34292510	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34294645	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35103832	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35244884	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353466	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35499091	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35635100	1.00[ASN][1000 genomes]
rs35672192	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35752453	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35773852	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860218	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57010514	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71416311	1.00[ASN][1000 genomes]
rs71416313	1.00[ASN][1000 genomes]
rs71416318	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71437513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003797	1.00[ASN][1000 genomes]
rs9707777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64321200-64340600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
3	chr14:64322800-64340400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:64322800-64340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:64323200-64340200	Weak transcription	Left Ventricle	heart
6	chr14:64323200-64340400	Weak transcription	Spleen	Spleen
7	chr14:64324600-64341400	Weak transcription	HSMM	muscle
8	chr14:64327200-64340600	Weak transcription	Right Ventricle	heart
9	chr14:64327400-64355200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:64327600-64360000	Weak transcription	Gastric	stomach
11	chr14:64327800-64342200	Weak transcription	Esophagus	oesophagus
12	chr14:64330200-64343600	Weak transcription	Brain Germinal Matrix	brain
13	chr14:64330600-64338200	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:64331200-64356400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:64331400-64339800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:64331400-64340400	Weak transcription	Fetal Heart	heart
17	chr14:64331400-64340800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:64331400-64342200	Weak transcription	NHLF	lung
19	chr14:64331600-64340400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:64331600-64340400	Weak transcription	Right Atrium	heart
21	chr14:64331600-64340800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:64331600-64341000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:64331600-64341800	Weak transcription	NHDF-Ad	bronchial
24	chr14:64331800-64341400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr14:64332400-64338000	Enhancers	Primary B cells from cord blood	blood
26	chr14:64333000-64341000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:64333200-64340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:64333200-64340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:64333400-64340400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:64333400-64340600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:64335200-64340400	Weak transcription	Lung	lung
32	chr14:64335200-64340400	Weak transcription	Ovary	ovary
33	chr14:64335200-64341800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:64335200-64342200	Weak transcription	Placenta	Placenta
35	chr14:64335200-64342200	Weak transcription	Pancreas	Pancrea
36	chr14:64335200-64360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:64335400-64340800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:64335600-64340400	Weak transcription	Fetal Kidney	kidney
39	chr14:64335600-64340600	Weak transcription	Fetal Lung	lung
40	chr14:64335800-64342000	Weak transcription	Colon Smooth Muscle	Colon
41	chr14:64336000-64340200	Weak transcription	Adipose Nuclei	Adipose
42	chr14:64336000-64340600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:64336800-64338000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:64336800-64339000	Weak transcription	Psoas Muscle	Psoas
45	chr14:64336800-64340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:64336800-64341400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:64336800-64362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:64337000-64338000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:64337000-64338800	Enhancers	GM12878-XiMat	blood
50	chr14:64337000-64339800	Weak transcription	NHEK	skin

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