Variant report

Variant	rs12879294
Chromosome Location	chr14:35052388-35052389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35045361..35048103-chr14:35051745..35053672,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10129588	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130504	1.00[ASN][1000 genomes]
rs10134991	0.98[ASN][1000 genomes]
rs10145193	0.88[EUR][1000 genomes]
rs10151057	0.88[EUR][1000 genomes]
rs10151255	0.88[EUR][1000 genomes]
rs10151653	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151959	0.89[EUR][1000 genomes]
rs10431614	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10872888	0.84[EUR][1000 genomes]
rs10872889	0.83[EUR][1000 genomes]
rs11156848	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11156851	0.87[EUR][1000 genomes]
rs11847241	0.89[EUR][1000 genomes]
rs11847568	0.90[EUR][1000 genomes]
rs11850430	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12431530	0.89[ASN][1000 genomes]
rs12881595	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34755567	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34939235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35239119	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36068893	0.88[EUR][1000 genomes]
rs3809450	0.89[EUR][1000 genomes]
rs3809451	0.89[EUR][1000 genomes]
rs3809452	0.88[EUR][1000 genomes]
rs3923104	0.87[EUR][1000 genomes]
rs3958	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4312221	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4347522	0.84[ASN][1000 genomes]
rs4479126	0.83[EUR][1000 genomes]
rs4982192	0.89[EUR][1000 genomes]
rs4982194	0.89[EUR][1000 genomes]
rs4982195	0.89[EUR][1000 genomes]
rs4982196	0.89[EUR][1000 genomes]
rs61553463	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61979724	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6571665	0.96[ASN][1000 genomes]
rs6650498	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7144356	0.88[EUR][1000 genomes]
rs7153918	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157392	0.96[ASN][1000 genomes]
rs7161203	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7161260	0.88[EUR][1000 genomes]
rs72673474	0.83[EUR][1000 genomes]
rs8014673	1.00[ASN][1000 genomes]
rs8021267	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652316	0.88[EUR][1000 genomes]

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	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1040303	chr14:35040853-35101044	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv542027	chr14:35040853-35101044	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35024400-35053600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:35024400-35056800	Weak transcription	Small Intestine	intestine
3	chr14:35024400-35060600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:35024400-35066200	Weak transcription	Stomach Mucosa	stomach
5	chr14:35031400-35052600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:35031400-35073400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:35031400-35073400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:35031400-35078000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:35031600-35055800	Strong transcription	Liver	Liver
10	chr14:35031600-35059600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:35031600-35074000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:35031600-35074000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:35031600-35079400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:35031800-35063400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:35032000-35056000	Strong transcription	Fetal Thymus	thymus
16	chr14:35032000-35072600	Strong transcription	Fetal Intestine Small	intestine
17	chr14:35032000-35072600	Strong transcription	Fetal Stomach	stomach
18	chr14:35032000-35078200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr14:35032000-35078600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:35032200-35061600	Weak transcription	Fetal Heart	heart
21	chr14:35032200-35080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:35032400-35055000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:35033000-35079000	Strong transcription	HepG2	liver
24	chr14:35033200-35061600	Weak transcription	Psoas Muscle	Psoas
25	chr14:35035600-35053400	Weak transcription	Fetal Brain Male	brain
26	chr14:35036400-35059200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:35039200-35054200	Weak transcription	Fetal Kidney	kidney
28	chr14:35040600-35080400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr14:35040800-35054200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:35041200-35073400	Weak transcription	K562	blood
31	chr14:35041600-35080200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:35041800-35054000	Weak transcription	Hela-S3	cervix
33	chr14:35042600-35052600	Weak transcription	HMEC	breast
34	chr14:35042600-35054200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:35043200-35054200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:35043800-35052800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:35043800-35053600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:35044000-35052800	Weak transcription	GM12878-XiMat	blood
39	chr14:35044600-35056000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:35045800-35056000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:35045800-35079000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:35045800-35079400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr14:35045800-35089200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:35046000-35055400	Strong transcription	Left Ventricle	heart
45	chr14:35046000-35055400	Strong transcription	Lung	lung
46	chr14:35046000-35055800	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:35046200-35055800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:35046200-35055800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr14:35046200-35078400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:35046200-35079600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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