Variant report

Variant	rs73276687
Chromosome Location	chr14:68214020-68214021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr14:68213593-68214155	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000252792	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs34805563	1.00[AMR][1000 genomes]
rs35080917	1.00[AMR][1000 genomes]
rs35106153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35575056	1.00[AMR][1000 genomes]
rs35577122	1.00[AMR][1000 genomes]
rs35917338	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57024266	1.00[AMR][1000 genomes]
rs57048278	1.00[AMR][1000 genomes]
rs58431859	1.00[AMR][1000 genomes]
rs58724136	1.00[AMR][1000 genomes]
rs59429458	1.00[AMR][1000 genomes]
rs59589798	1.00[AMR][1000 genomes]
rs59922989	1.00[AMR][1000 genomes]
rs60013875	1.00[AMR][1000 genomes]
rs60273960	1.00[AMR][1000 genomes]
rs60782801	1.00[AMR][1000 genomes]
rs61011477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61214213	1.00[AMR][1000 genomes]
rs61341378	1.00[AMR][1000 genomes]
rs61584136	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272331	1.00[AMR][1000 genomes]
rs73274539	1.00[AMR][1000 genomes]
rs73276671	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276676	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276693	1.00[AFR][1000 genomes]
rs73278432	1.00[AMR][1000 genomes]
rs73278469	1.00[AMR][1000 genomes]
rs73280405	1.00[AMR][1000 genomes]
rs73280424	1.00[AMR][1000 genomes]
rs73280429	1.00[AMR][1000 genomes]
rs73280438	1.00[AMR][1000 genomes]
rs73280465	1.00[AMR][1000 genomes]
rs73280477	1.00[AMR][1000 genomes]
rs73280481	1.00[AMR][1000 genomes]
rs73280491	1.00[AMR][1000 genomes]
rs73282413	1.00[AMR][1000 genomes]
rs73282473	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:68196800-68214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:68201400-68214600	Weak transcription	Brain Substantia Nigra	brain
6	chr14:68201600-68214600	Weak transcription	Spleen	Spleen
7	chr14:68202800-68215000	Weak transcription	Right Ventricle	heart
8	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
9	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
10	chr14:68204400-68214800	Weak transcription	Gastric	stomach
11	chr14:68206000-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:68206000-68214800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:68206000-68214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:68206000-68214800	Weak transcription	Brain Anterior Caudate	brain
15	chr14:68206000-68214800	Weak transcription	Esophagus	oesophagus
16	chr14:68206000-68214800	Weak transcription	HSMMtube	muscle
17	chr14:68206000-68215000	Weak transcription	Colonic Mucosa	Colon
18	chr14:68206000-68216200	Weak transcription	NH-A	brain
19	chr14:68206200-68251000	Weak transcription	K562	blood
20	chr14:68206400-68214600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:68206400-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:68206400-68214800	Weak transcription	HMEC	breast
23	chr14:68206400-68216800	Weak transcription	NHEK	skin
24	chr14:68206600-68214600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:68206600-68214600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:68206600-68214600	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:68206600-68214600	Weak transcription	Fetal Intestine Small	intestine
28	chr14:68206600-68214600	Weak transcription	NHLF	lung
29	chr14:68206600-68215800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:68206800-68215000	Weak transcription	Hela-S3	cervix
31	chr14:68206800-68217600	Weak transcription	HepG2	liver
32	chr14:68207000-68214800	Weak transcription	A549	lung
33	chr14:68208000-68214800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:68209800-68214800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:68210800-68214600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:68210800-68217600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:68211000-68214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:68211000-68217200	Weak transcription	Fetal Kidney	kidney
39	chr14:68211200-68214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:68211200-68214600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:68211200-68214800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:68211400-68214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:68211400-68214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:68211400-68214600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:68211400-68214600	Weak transcription	NHDF-Ad	bronchial
46	chr14:68211400-68214800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:68211400-68218800	Weak transcription	Psoas Muscle	Psoas
48	chr14:68211600-68214600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:68211600-68230800	Weak transcription	Stomach Mucosa	stomach
50	chr14:68211800-68214600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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