Variant report

Variant	rs12881942
Chromosome Location	chr14:64358206-64358207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11158520	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11850711	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12588807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588955	0.86[ASN][1000 genomes]
rs12589453	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12878037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878348	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879374	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888489	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12888712	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12891546	0.84[EUR][1000 genomes]
rs12894963	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896120	0.83[AMR][1000 genomes]
rs17751301	1.00[CEU][hapmap]
rs17824268	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs33976862	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs34328391	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34451919	0.86[ASN][1000 genomes]
rs34556545	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34561759	1.00[ASN][1000 genomes]
rs35009554	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033077	0.83[ASN][1000 genomes]
rs35168922	1.00[ASN][1000 genomes]
rs35302448	1.00[ASN][1000 genomes]
rs35581544	0.80[AMR][1000 genomes]
rs35984502	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3818774	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4459477	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4899120	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902250	1.00[ASN][1000 genomes]
rs6573539	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66684280	1.00[ASN][1000 genomes]
rs67289344	1.00[ASN][1000 genomes]
rs71416319	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144308	0.86[ASN][1000 genomes]
rs7401191	1.00[ASN][1000 genomes]
rs8015210	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs8023195	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	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
5	nsv564904	chr14:64346190-64416898	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64327600-64360000	Weak transcription	Gastric	stomach
2	chr14:64335200-64360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:64336800-64362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:64337000-64365200	Weak transcription	Fetal Thymus	thymus
5	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
6	chr14:64339400-64366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:64341400-64366800	Weak transcription	Primary T cells from cord blood	blood
8	chr14:64342800-64360400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:64342800-64360400	Weak transcription	Hela-S3	cervix
10	chr14:64342800-64368400	Weak transcription	Esophagus	oesophagus
11	chr14:64343600-64359400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:64349400-64366600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:64349600-64366000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:64351400-64359400	Weak transcription	Lung	lung
15	chr14:64352000-64360400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:64352200-64360000	Weak transcription	Spleen	Spleen
17	chr14:64352800-64366800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:64354400-64360000	Weak transcription	Right Atrium	heart
19	chr14:64355200-64360000	Weak transcription	Pancreas	Pancrea
20	chr14:64355200-64360400	Weak transcription	Colonic Mucosa	Colon
21	chr14:64355200-64362000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:64355400-64360000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:64355600-64360200	Weak transcription	A549	lung
24	chr14:64356200-64359800	Enhancers	Dnd41	blood
25	chr14:64356400-64359000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:64356600-64358400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:64356600-64359000	Enhancers	Fetal Kidney	kidney
28	chr14:64356600-64359400	Enhancers	GM12878-XiMat	blood
29	chr14:64356800-64359000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:64357000-64358800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:64357000-64359200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:64357000-64359400	Enhancers	Fetal Heart	heart
33	chr14:64357000-64359600	Enhancers	Stomach Mucosa	stomach
34	chr14:64357000-64363600	Enhancers	Liver	Liver
35	chr14:64357200-64358400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:64357200-64358400	Enhancers	Colon Smooth Muscle	Colon
37	chr14:64357200-64358400	Enhancers	Small Intestine	intestine
38	chr14:64357200-64358600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr14:64357200-64358600	Enhancers	Psoas Muscle	Psoas
40	chr14:64357200-64358600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr14:64357200-64358800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr14:64357200-64358800	Enhancers	Fetal Muscle Leg	muscle
43	chr14:64357200-64358800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr14:64357200-64358800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr14:64357200-64359000	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr14:64357200-64359000	Enhancers	Duodenum Mucosa	Duodenum
47	chr14:64357200-64360200	Enhancers	Fetal Lung	lung
48	chr14:64357200-64360800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr14:64357200-64361600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:64357200-64362400	Enhancers	Fetal Stomach	stomach

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