Variant report

Variant	rs2147114
Chromosome Location	chr14:56077118-56077119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56072488..56077213-chr14:56077351..56081424,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10083303	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083353	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083431	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083493	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10083499	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10129890	0.85[AMR][1000 genomes]
rs10133729	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10133962	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135426	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135600	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136155	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137340	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137364	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137885	0.84[EUR][1000 genomes]
rs10139905	0.84[EUR][1000 genomes]
rs10142497	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142757	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143002	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145687	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146604	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10147380	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147431	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148122	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148983	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149408	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10150498	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151664	0.82[AMR][1000 genomes]
rs10483643	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483645	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483646	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10483648	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483650	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11546	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100753	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12100949	0.82[AMR][1000 genomes]
rs12323476	0.84[EUR][1000 genomes]
rs12879564	0.96[AMR][1000 genomes]
rs12879705	0.88[AMR][1000 genomes]
rs12880362	0.96[AMR][1000 genomes]
rs12883972	0.92[AMR][1000 genomes]
rs12886406	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12892022	1.00[AFR][1000 genomes]
rs12892413	1.00[AFR][1000 genomes]
rs12893061	0.96[AMR][1000 genomes]
rs12893081	1.00[AFR][1000 genomes]
rs12893610	0.96[AMR][1000 genomes]
rs12893676	0.96[AMR][1000 genomes]
rs12893836	1.00[AFR][1000 genomes]
rs12894368	0.96[AMR][1000 genomes]
rs12894613	0.96[AMR][1000 genomes]
rs13379151	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379340	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379342	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379343	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379353	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253716	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17253723	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17253730	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17253744	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17683614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17683626	1.00[AMR][1000 genomes]
rs17683656	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17683728	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17685078	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17685102	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744929	1.00[AFR][1000 genomes]
rs17745274	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17745459	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs17746033	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17746106	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747083	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747301	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17832365	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17832371	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17832389	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2274075	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296181	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28375514	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28380739	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28392709	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409547	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478195	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513551	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537145	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28539882	0.84[EUR][1000 genomes]
rs28549152	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581185	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587929	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616134	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28661008	0.84[EUR][1000 genomes]
rs28663681	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28681420	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28754619	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28831725	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34136598	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs34330219	0.96[AMR][1000 genomes]
rs34446601	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs34719936	0.96[AMR][1000 genomes]
rs35230683	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs35294669	0.96[AMR][1000 genomes]
rs35418987	0.96[AMR][1000 genomes]
rs35466279	0.96[AMR][1000 genomes]
rs35536987	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs35830444	0.96[AMR][1000 genomes]
rs3736876	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742570	0.96[AMR][1000 genomes]
rs3742571	0.92[AMR][1000 genomes]
rs45458197	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45501402	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58569951	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58589065	0.92[EUR][1000 genomes]
rs71412688	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs71412689	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs71412690	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs71412693	1.00[AFR][1000 genomes]
rs71413577	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs71413578	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs7145064	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150841	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74051609	0.86[EUR][1000 genomes]
rs74053651	0.90[EUR][1000 genomes]
rs8006705	0.86[EUR][1000 genomes]
rs8007065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009608	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013714	0.86[EUR][1000 genomes]
rs8013831	0.86[EUR][1000 genomes]
rs8017891	0.86[EUR][1000 genomes]
rs8018142	0.86[EUR][1000 genomes]
rs8019218	0.91[AMR][1000 genomes]
rs9323289	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944028	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972177	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972178	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972180	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2147114	KTN1	cis	multi-tissue	Pritchard
rs2147114	KTN1-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:56052000-56080200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr14:56061000-56085400	Weak transcription	Fetal Kidney	kidney
4	chr14:56061000-56085400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:56061200-56082400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:56064200-56082800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:56066400-56079000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:56066400-56079800	Weak transcription	K562	blood
9	chr14:56066600-56079000	Weak transcription	Fetal Intestine Large	intestine
10	chr14:56066600-56079200	Weak transcription	Placenta	Placenta
11	chr14:56066600-56086200	Weak transcription	Fetal Intestine Small	intestine
12	chr14:56066600-56086200	Weak transcription	Gastric	stomach
13	chr14:56066800-56079200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:56066800-56080000	Weak transcription	Fetal Muscle Leg	muscle
15	chr14:56066800-56086200	Weak transcription	Fetal Stomach	stomach
16	chr14:56067600-56080600	Weak transcription	GM12878-XiMat	blood
17	chr14:56067800-56079000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:56067800-56082200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:56068000-56081400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:56068600-56080400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:56068600-56086200	Weak transcription	Spleen	Spleen
22	chr14:56068600-56086600	Weak transcription	Lung	lung
23	chr14:56068800-56080600	Weak transcription	Esophagus	oesophagus
24	chr14:56068800-56081000	Weak transcription	Liver	Liver
25	chr14:56069600-56079000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:56069600-56086800	Weak transcription	Pancreas	Pancrea
27	chr14:56069800-56079200	Weak transcription	Primary T cells from cord blood	blood
28	chr14:56070000-56079000	Weak transcription	Primary B cells from cord blood	blood
29	chr14:56070400-56086200	Weak transcription	Aorta	Aorta
30	chr14:56070600-56079000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:56070600-56079200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:56070800-56079800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:56070800-56083000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:56070800-56085000	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:56071000-56079200	Weak transcription	Dnd41	blood
36	chr14:56071000-56081200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:56071000-56083600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:56071000-56086000	Weak transcription	Thymus	Thymus
39	chr14:56071400-56079800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:56071800-56079000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:56071800-56086200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr14:56072400-56086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:56073200-56080600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr14:56073200-56081200	Weak transcription	Adipose Nuclei	Adipose
45	chr14:56073200-56082800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:56074000-56077200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:56074200-56077800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr14:56074600-56080200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:56074600-56081200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr14:56074600-56084600	Weak transcription	Brain Inferior Temporal Lobe	brain

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