Variant report

Variant	rs74053651
Chromosome Location	chr14:56125366-56125367
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	RFX5	chr14:56125211-56125389	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:56120266..56122635-chr14:56124757..56126273,2	K562	blood:
2	chr14:56113692..56116512-chr14:56123800..56126287,2	MCF-7	breast:
3	chr14:56118646..56123000-chr14:56124614..56127350,4	MCF-7	breast:
4	chr14:56123511..56126228-chr14:56130259..56133014,2	K562	blood:

Variant related genes	Relation type
KTN1	TF binding region
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10083303	0.90[EUR][1000 genomes]
rs10083353	0.88[EUR][1000 genomes]
rs10083431	0.88[EUR][1000 genomes]
rs10083499	0.90[EUR][1000 genomes]
rs10133729	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10133962	0.90[EUR][1000 genomes]
rs10135426	0.83[EUR][1000 genomes]
rs10135600	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10136155	0.83[EUR][1000 genomes]
rs10137340	0.83[EUR][1000 genomes]
rs10137364	0.86[EUR][1000 genomes]
rs10137885	0.93[AMR][1000 genomes]
rs10139905	0.89[AMR][1000 genomes]
rs10142497	0.81[EUR][1000 genomes]
rs10142757	0.90[EUR][1000 genomes]
rs10143002	0.90[EUR][1000 genomes]
rs10145687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10147380	0.83[EUR][1000 genomes]
rs10147431	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10148122	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10148983	0.83[EUR][1000 genomes]
rs10150498	0.90[EUR][1000 genomes]
rs10483643	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10483645	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10483646	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10483648	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10483650	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11546	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12323476	0.86[AMR][1000 genomes]
rs13379151	0.83[EUR][1000 genomes]
rs13379340	0.83[EUR][1000 genomes]
rs13379342	0.83[EUR][1000 genomes]
rs13379343	0.83[EUR][1000 genomes]
rs13379353	0.83[EUR][1000 genomes]
rs17253716	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17253723	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17253730	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17253744	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17683656	0.83[EUR][1000 genomes]
rs17683728	0.90[EUR][1000 genomes]
rs17685078	0.90[EUR][1000 genomes]
rs17685102	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17746033	0.90[EUR][1000 genomes]
rs17746106	0.85[EUR][1000 genomes]
rs17747083	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17747301	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17832365	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17832371	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2147114	0.90[EUR][1000 genomes]
rs2274075	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2296181	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28375514	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28380739	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28392709	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28478195	0.81[EUR][1000 genomes]
rs28513551	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28537145	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28539882	0.89[AMR][1000 genomes]
rs28549152	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28581185	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28587929	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28616134	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28661008	0.93[AMR][1000 genomes]
rs28663681	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28681420	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28754619	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28831725	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3736876	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs45458197	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs45501402	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58569951	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58589065	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7145064	0.90[EUR][1000 genomes]
rs7150841	0.90[EUR][1000 genomes]
rs74051609	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8006705	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8007065	0.90[EUR][1000 genomes]
rs8008528	0.90[EUR][1000 genomes]
rs8009239	0.90[EUR][1000 genomes]
rs8009608	0.83[EUR][1000 genomes]
rs8013714	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8013831	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8017891	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8018142	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9323289	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9944028	0.90[EUR][1000 genomes]
rs9972177	0.90[EUR][1000 genomes]
rs9972178	0.90[EUR][1000 genomes]
rs9972180	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087400-56132200	Strong transcription	Dnd41	blood
3	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:56088200-56129400	Weak transcription	Spleen	Spleen
5	chr14:56088200-56132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:56088400-56153200	Weak transcription	Gastric	stomach
7	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:56094400-56132600	Strong transcription	HSMM	muscle
9	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:56099000-56128000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:56100200-56131000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:56101000-56132800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr14:56101800-56128800	Weak transcription	Fetal Stomach	stomach
16	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
17	chr14:56102400-56145200	Weak transcription	Lung	lung
18	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
19	chr14:56103400-56130600	Weak transcription	Thymus	Thymus
20	chr14:56104600-56127600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:56104800-56128800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:56105000-56129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:56105000-56138200	Weak transcription	Psoas Muscle	Psoas
25	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:56109200-56132000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:56109200-56141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:56109600-56131400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:56109800-56128000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:56109800-56139600	Weak transcription	Colonic Mucosa	Colon
32	chr14:56109800-56145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:56111800-56127200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:56112800-56131200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:56113200-56131400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:56113400-56130000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr14:56113400-56132000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:56114600-56125600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr14:56114600-56131400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:56114800-56125400	Strong transcription	NH-A	brain
42	chr14:56114800-56127200	Strong transcription	Primary B cells from cord blood	blood
43	chr14:56114800-56128000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr14:56114800-56128200	Strong transcription	Placenta	Placenta
45	chr14:56114800-56128400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:56114800-56131400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr14:56114800-56131400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:56114800-56132200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:56115000-56127000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr14:56115000-56131600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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