Variant report

Variant	rs12888712
Chromosome Location	chr14:64380275-64380276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11158520	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850711	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588807	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12589453	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12878037	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12881942	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12882429	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12888489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894963	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12896120	0.83[EUR][1000 genomes]
rs35009554	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3818774	0.82[AMR][1000 genomes]
rs6573539	0.92[AMR][1000 genomes];0.90[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	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
2	chr14:64360600-64382200	Weak transcription	Psoas Muscle	Psoas
3	chr14:64364400-64385200	Weak transcription	Pancreas	Pancrea
4	chr14:64364600-64387800	Weak transcription	HMEC	breast
5	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
6	chr14:64365200-64386200	Weak transcription	Gastric	stomach
7	chr14:64365400-64393600	Weak transcription	Right Ventricle	heart
8	chr14:64369800-64386200	Weak transcription	Esophagus	oesophagus
9	chr14:64374600-64399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:64375200-64385000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:64375200-64395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:64375200-64395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:64375600-64381000	Weak transcription	NHEK	skin
14	chr14:64375800-64380800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:64375800-64381000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:64375800-64384000	Weak transcription	Fetal Intestine Large	intestine
17	chr14:64375800-64384800	Weak transcription	Fetal Kidney	kidney
18	chr14:64375800-64386200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:64375800-64388600	Weak transcription	Hela-S3	cervix
20	chr14:64375800-64389000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:64375800-64393200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:64376000-64383400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:64376000-64385400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:64376000-64386200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:64376000-64386200	Weak transcription	Left Ventricle	heart
26	chr14:64376000-64389000	Weak transcription	Adipose Nuclei	Adipose
27	chr14:64376000-64389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:64376000-64389600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:64376000-64389600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:64376000-64391200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:64376000-64399200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:64376000-64399600	Weak transcription	Small Intestine	intestine
33	chr14:64376000-64399800	Weak transcription	Primary T cells from cord blood	blood
34	chr14:64376000-64416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:64376200-64399400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:64376400-64380600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr14:64376400-64394000	Weak transcription	Lung	lung
38	chr14:64377600-64386200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:64377600-64388000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:64377600-64389400	Weak transcription	Fetal Intestine Small	intestine
41	chr14:64378000-64383600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:64378000-64384600	Weak transcription	Stomach Mucosa	stomach
43	chr14:64378000-64385200	Weak transcription	Ovary	ovary
44	chr14:64378000-64386000	Weak transcription	Fetal Stomach	stomach
45	chr14:64378000-64386200	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:64378000-64389400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:64378000-64394800	Weak transcription	Fetal Heart	heart
48	chr14:64378000-64404800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:64378000-64416200	Weak transcription	Fetal Lung	lung
50	chr14:64378200-64381000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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