Variant report

Variant	rs74058553
Chromosome Location	chr14:66135875-66135876
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	GATA1	chr14:66135630-66136211	PBDE	blood:	n/a	chr14:66135924-66135933
2	POLR2A	chr14:66135713-66136279	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
FUT8	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12433688	0.94[AFR][1000 genomes]
rs17102688	0.94[AFR][1000 genomes]
rs17102839	0.94[AFR][1000 genomes]
rs55674739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55698845	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55723633	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55954698	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55967642	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56258162	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56350757	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56395501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56401246	0.88[AFR][1000 genomes]
rs56821971	0.94[AFR][1000 genomes]
rs57228058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57283810	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57528434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58087042	0.94[AFR][1000 genomes]
rs58873346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60009307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60225754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60393585	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60470427	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60789318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61016861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61417186	0.94[AFR][1000 genomes]
rs74056773	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056775	0.94[AFR][1000 genomes]
rs74056779	1.00[EUR][1000 genomes]
rs74056782	0.94[AFR][1000 genomes]
rs74056784	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056787	0.94[AFR][1000 genomes]
rs74056794	0.94[AFR][1000 genomes]
rs74056795	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056796	1.00[AFR][1000 genomes]
rs74056798	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056804	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056807	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056849	1.00[EUR][1000 genomes]
rs74056852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058503	0.89[AFR][1000 genomes]
rs74058507	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058513	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058518	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058519	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058523	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058524	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058525	0.94[AFR][1000 genomes]
rs74058528	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058529	0.89[AFR][1000 genomes]
rs74058536	0.88[AFR][1000 genomes]
rs74058539	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058541	0.94[AFR][1000 genomes]
rs74058545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058562	0.94[AFR][1000 genomes]
rs74058563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
2	chr14:66090800-66145000	Weak transcription	Small Intestine	intestine
3	chr14:66092800-66141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:66099200-66144000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:66105000-66143400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:66105000-66149600	Weak transcription	Fetal Thymus	thymus
8	chr14:66105000-66157400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:66105200-66136000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:66113400-66141400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:66125600-66138200	Weak transcription	NHLF	lung
12	chr14:66125600-66146600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:66125600-66157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:66126400-66146800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:66126800-66153400	Weak transcription	Aorta	Aorta
16	chr14:66128200-66138600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:66129400-66143200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:66130400-66141800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:66130400-66146600	Weak transcription	Brain Angular Gyrus	brain
20	chr14:66130800-66136000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:66130800-66141600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:66131000-66143400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:66131400-66141200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:66131800-66137000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:66131800-66138400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:66132000-66136200	Weak transcription	Placenta	Placenta
27	chr14:66132000-66138400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:66132400-66139600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:66133000-66140000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:66133200-66137000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:66133200-66137800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:66133400-66138600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:66133800-66136600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:66133800-66138600	Weak transcription	Brain Anterior Caudate	brain
35	chr14:66134200-66153200	Weak transcription	Ovary	ovary
36	chr14:66134400-66136600	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:66134600-66141200	Weak transcription	Fetal Intestine Large	intestine
38	chr14:66134600-66141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:66134600-66141400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:66134600-66141600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:66134600-66142000	Weak transcription	Adipose Nuclei	Adipose
42	chr14:66134800-66137800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr14:66135000-66138400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:66135000-66140400	Strong transcription	Dnd41	blood
45	chr14:66135000-66140600	Strong transcription	Primary B cells from cord blood	blood
46	chr14:66135200-66136800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:66135200-66137600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:66135200-66139200	Strong transcription	Primary T cells from cord blood	blood
49	chr14:66135400-66138000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr14:66135400-66140200	Strong transcription	GM12878-XiMat	blood

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