Variant report

Variant	rs12878312
Chromosome Location	chr14:64394600-64394601
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11158521	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11621026	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11623256	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11624124	0.84[AFR][1000 genomes]
rs11844554	0.84[AFR][1000 genomes]
rs1255859	0.86[AFR][1000 genomes]
rs1255861	0.83[AFR][1000 genomes]
rs1255862	0.85[AFR][1000 genomes]
rs17101465	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2775000	0.85[AFR][1000 genomes]
rs35539333	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4899122	0.85[AFR][1000 genomes]
rs4899123	0.80[EUR][1000 genomes]
rs4902254	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55989826	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56028641	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56259838	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7155075	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8022079	0.83[AFR][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	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
2	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
3	chr14:64374600-64399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:64375200-64395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:64375200-64395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:64376000-64399200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:64376000-64399600	Weak transcription	Small Intestine	intestine
8	chr14:64376000-64399800	Weak transcription	Primary T cells from cord blood	blood
9	chr14:64376000-64416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:64376200-64399400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:64378000-64394800	Weak transcription	Fetal Heart	heart
12	chr14:64378000-64404800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:64378000-64416200	Weak transcription	Fetal Lung	lung
14	chr14:64378400-64416000	Weak transcription	Primary B cells from cord blood	blood
15	chr14:64378800-64401200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:64379800-64409000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:64381400-64395200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:64384200-64399600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:64385600-64395600	Weak transcription	Ovary	ovary
20	chr14:64386400-64403800	Weak transcription	Esophagus	oesophagus
21	chr14:64386400-64405600	Weak transcription	Pancreas	Pancrea
22	chr14:64386600-64403400	Weak transcription	Gastric	stomach
23	chr14:64387000-64404200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:64387000-64416400	Weak transcription	Aorta	Aorta
25	chr14:64387200-64396600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:64387200-64399800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:64387400-64396400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:64387400-64399800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:64389800-64395400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:64390000-64399200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:64390200-64398400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:64390200-64398600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:64390200-64399400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:64390200-64399400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:64390200-64399400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:64390200-64400600	Weak transcription	Right Atrium	heart
37	chr14:64390200-64416400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:64390400-64395000	Weak transcription	Fetal Kidney	kidney
39	chr14:64390400-64399400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:64390400-64399400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:64390600-64395000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:64390600-64399600	Weak transcription	NHEK	skin
43	chr14:64390600-64418800	Weak transcription	HepG2	liver
44	chr14:64390800-64399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:64390800-64399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:64390800-64399600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:64390800-64399600	Weak transcription	Stomach Mucosa	stomach
48	chr14:64390800-64404000	Weak transcription	Placenta	Placenta
49	chr14:64390800-64408600	Weak transcription	Fetal Intestine Large	intestine
50	chr14:64391000-64395400	Weak transcription	HMEC	breast

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