Variant report

Variant	rs17253716
Chromosome Location	chr14:56153661-56153662
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56102256..56103857-chr14:56152714..56154637,2	K562	blood:
2	chr14:56152134..56154942-chr14:56705477..56707691,2	K562	blood:
3	chr14:56145095..56147248-chr14:56151830..56154443,3	K562	blood:
4	chr14:56145481..56148002-chr14:56152406..56155008,3	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10083303	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10083353	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10083431	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10083493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs10083499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10133729	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10133962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10135426	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10135600	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10136155	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10137340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10137364	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10137885	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10139905	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10142497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10142757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10143002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10145687	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10146604	0.84[EUR][1000 genomes]
rs10147380	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10147431	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10148122	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10148983	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10149408	0.84[EUR][1000 genomes]
rs10150498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10483643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10483645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10483646	0.87[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10483648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10483650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11546	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12100753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12100949	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12323476	0.88[EUR][1000 genomes]
rs12886406	1.00[AFR][1000 genomes]
rs12892022	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs12892413	1.00[AFR][1000 genomes]
rs12893081	1.00[AFR][1000 genomes]
rs12893836	1.00[AFR][1000 genomes]
rs12894368	1.00[CHB][hapmap]
rs13379151	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13379340	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13379342	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13379343	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13379353	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17253723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253730	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17253792	0.87[AMR][1000 genomes]
rs17683614	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17683626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs17683656	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17683728	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17685078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17685102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17744929	1.00[AFR][1000 genomes]
rs17745274	1.00[AFR][1000 genomes]
rs17745459	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs17746033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17746106	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17747083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17747301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17832365	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17832371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17832389	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2147114	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2274075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2296181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28375514	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28380739	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28392709	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28409547	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28478195	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28513551	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28537145	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28539882	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28549152	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28581185	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28587929	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28616134	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28661008	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28663681	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28681420	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28754619	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28831725	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34136598	1.00[AFR][1000 genomes]
rs34446601	1.00[AFR][1000 genomes]
rs35230683	1.00[AFR][1000 genomes]
rs35536987	1.00[AFR][1000 genomes]
rs3736876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45458197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45501402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58569951	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58589065	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71412688	1.00[AFR][1000 genomes]
rs71412689	1.00[AFR][1000 genomes]
rs71412690	1.00[AFR][1000 genomes]
rs71412693	1.00[AFR][1000 genomes]
rs71413577	1.00[AFR][1000 genomes]
rs71413578	1.00[AFR][1000 genomes]
rs7145064	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7150841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74051609	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74053651	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8006705	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8007065	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8008528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8009239	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8009608	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8010475	0.87[AMR][1000 genomes]
rs8013714	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8013831	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8017891	0.90[EUR][1000 genomes]
rs8018142	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9323289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9944028	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9972177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9972178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9972180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17253716	KTN1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs17253716	KTN1	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
3	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
4	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:56115000-56155000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
9	chr14:56134000-56155000	Strong transcription	HSMM	muscle
10	chr14:56134600-56154200	Strong transcription	Liver	Liver
11	chr14:56136600-56154200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:56136800-56153800	Strong transcription	Dnd41	blood
13	chr14:56136800-56154200	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr14:56137000-56153800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr14:56137000-56154200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr14:56137200-56154000	Strong transcription	Primary B cells from cord blood	blood
17	chr14:56137400-56153800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:56137400-56154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:56137400-56154800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:56137400-56155000	Strong transcription	Adipose Nuclei	Adipose
21	chr14:56138600-56155200	Strong transcription	A549	lung
22	chr14:56141400-56154400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:56142800-56168400	Weak transcription	Fetal Kidney	kidney
24	chr14:56144800-56153800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:56145200-56153800	Strong transcription	HUVEC	blood vessel
26	chr14:56145600-56154000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:56145800-56153800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:56145800-56153800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:56145800-56154000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:56145800-56156800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:56145800-56157200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:56146000-56153800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:56146400-56153800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:56146400-56155600	Weak transcription	Spleen	Spleen
35	chr14:56146800-56156800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:56146800-56157800	Weak transcription	Fetal Brain Male	brain
37	chr14:56147000-56155200	Weak transcription	Fetal Brain Female	brain
38	chr14:56147400-56154600	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:56147400-56170400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:56147600-56157200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:56147800-56156400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:56147800-56156800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:56147800-56164200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:56148000-56161800	Weak transcription	Pancreas	Pancrea
45	chr14:56148000-56174000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:56148200-56154200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:56148400-56165600	Weak transcription	NHDF-Ad	bronchial
48	chr14:56150400-56153800	Strong transcription	Rectal Smooth Muscle	rectum
49	chr14:56150600-56154000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:56150600-56155000	Strong transcription	GM12878-XiMat	blood

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