Variant report

Variant	rs71412689
Chromosome Location	chr14:56024538-56024539
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	NFIC	chr14:56023419-56024619	ECC-1	luminal epithelium:	n/a	chr14:56024071-56024088
2	FOXM1	chr14:56023500-56024575	ECC-1	luminal epithelium:	n/a	n/a
3	TCF12	chr14:56023607-56024632	ECC-1	luminal epithelium:	n/a	chr14:56024058-56024066 chr14:56024390-56024397
4	EP300	chr14:56023468-56024565	ECC-1	luminal epithelium:	n/a	n/a
5	JUND	chr14:56023790-56024555	SK-N-SH	brain:	n/a	chr14:56023872-56023883
6	EP300	chr14:56023723-56024610	SK-N-SH	brain:	n/a	n/a
7	MXI1	chr14:56023631-56024621	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr14:56023611-56024581	SK-N-SH	brain:	n/a	chr14:56024058-56024066 chr14:56024390-56024397
9	HDAC2	chr14:56023735-56024565	MCF-7	breast:	n/a	n/a
10	CEBPB	chr14:56023669-56024573	ECC-1	luminal epithelium:	n/a	n/a
11	FOSL2	chr14:56023748-56024544	SK-N-SH	brain:	n/a	chr14:56023872-56023883
12	EP300	chr14:56023381-56024597	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr14:56023598-56024543	SK-N-SH	brain:	n/a	chr14:56024058-56024066 chr14:56024390-56024397
14	GATA3	chr14:56023597-56024619	SK-N-SH	brain:	n/a	chr14:56023872-56023881
15	MAX	chr14:56023610-56024565	ECC-1	luminal epithelium:	n/a	n/a
16	PBX3	chr14:56023747-56024538	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:56008500..56010380-chr14:56023755..56025494,2	MCF-7	breast:
2	chr14:56022620..56026445-chr14:56044953..56047966,3	MCF-7	breast:
3	chr14:56012207..56014964-chr14:56021875..56024671,2	MCF-7	breast:

Variant related genes	Relation type
KTN1	TF binding region
ENSG00000126777	Chromatin interaction
ENSG00000271484	Chromatin interaction
ENSG00000186615	Chromatin interaction
ENSG00000213641	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10083303	0.88[AMR][1000 genomes]
rs10083353	0.88[AMR][1000 genomes]
rs10083431	0.84[AMR][1000 genomes]
rs10083493	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10083499	0.84[AMR][1000 genomes]
rs10129890	0.81[AMR][1000 genomes]
rs10133729	0.80[AMR][1000 genomes]
rs10133962	0.88[AMR][1000 genomes]
rs10135426	0.84[AMR][1000 genomes]
rs10136155	0.88[AMR][1000 genomes]
rs10137340	0.84[AMR][1000 genomes]
rs10137364	0.84[AMR][1000 genomes]
rs10142497	0.88[AMR][1000 genomes]
rs10142757	0.88[AMR][1000 genomes]
rs10143002	0.88[AMR][1000 genomes]
rs10146604	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10147380	0.84[AMR][1000 genomes]
rs10148983	0.88[AMR][1000 genomes]
rs10149408	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10150498	0.84[AMR][1000 genomes]
rs10483643	0.80[AMR][1000 genomes]
rs10483645	1.00[AFR][1000 genomes]
rs10483646	1.00[AFR][1000 genomes]
rs10483648	1.00[AFR][1000 genomes]
rs10483650	1.00[AFR][1000 genomes]
rs12100753	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12879564	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879705	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880362	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883972	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892022	1.00[AFR][1000 genomes]
rs12892413	1.00[AFR][1000 genomes]
rs12893061	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893081	1.00[AFR][1000 genomes]
rs12893610	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893676	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893836	1.00[AFR][1000 genomes]
rs12894368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894613	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379151	0.84[AMR][1000 genomes]
rs13379340	0.84[AMR][1000 genomes]
rs13379342	0.88[AMR][1000 genomes]
rs13379343	0.88[AMR][1000 genomes]
rs13379353	0.84[AMR][1000 genomes]
rs17253716	1.00[AFR][1000 genomes]
rs17253723	1.00[AFR][1000 genomes]
rs17253744	1.00[AFR][1000 genomes]
rs17683614	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17683626	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17683656	0.88[AMR][1000 genomes]
rs17683728	0.88[AMR][1000 genomes]
rs17685078	1.00[AFR][1000 genomes]
rs17685102	1.00[AFR][1000 genomes]
rs17744929	1.00[AFR][1000 genomes]
rs17745274	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17746033	0.88[AMR][1000 genomes]
rs17746106	0.81[AMR][1000 genomes]
rs17832371	1.00[AFR][1000 genomes]
rs17832389	1.00[AFR][1000 genomes]
rs2147114	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2274075	0.80[AMR][1000 genomes]
rs28380739	0.80[AMR][1000 genomes]
rs28392709	0.80[AMR][1000 genomes]
rs28478195	0.88[AMR][1000 genomes]
rs28513551	0.80[AMR][1000 genomes]
rs28549152	0.80[AMR][1000 genomes]
rs28581185	0.80[AMR][1000 genomes]
rs28681420	0.80[AMR][1000 genomes]
rs28831725	0.80[AMR][1000 genomes]
rs34136598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34330219	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34446601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34719936	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35230683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35294669	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35418987	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35466279	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35830444	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736876	1.00[AFR][1000 genomes]
rs3742570	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742571	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45458197	1.00[AFR][1000 genomes]
rs45501402	1.00[AFR][1000 genomes]
rs71412688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71412690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71412693	1.00[AFR][1000 genomes]
rs71413577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71413578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7145064	0.87[AMR][1000 genomes]
rs7150841	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8007065	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs8008528	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs8009239	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs8009608	0.88[AMR][1000 genomes]
rs8019218	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9944028	0.88[AMR][1000 genomes]
rs9972177	0.84[AMR][1000 genomes]
rs9972178	0.88[AMR][1000 genomes]
rs9972180	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv1047054	chr14:55922287-56035579	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1037161	chr14:55928030-56039353	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71412689	KTN1-AS1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56010600-56026600	Weak transcription	Right Ventricle	heart
2	chr14:56014000-56031200	Weak transcription	Left Ventricle	heart
3	chr14:56021000-56026600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:56022600-56026600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:56023200-56025000	Enhancers	Fetal Muscle Leg	muscle
6	chr14:56023400-56024600	Enhancers	HMEC	breast
7	chr14:56023400-56025200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:56023600-56024600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:56023600-56024600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:56023600-56025000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr14:56023600-56025200	Enhancers	NHDF-Ad	bronchial
12	chr14:56023600-56045200	Weak transcription	Primary T cells from cord blood	blood
13	chr14:56023800-56024600	Enhancers	HUVEC	blood vessel
14	chr14:56023800-56024600	Enhancers	NHEK	skin
15	chr14:56024000-56024600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr14:56024000-56025000	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:56024000-56028800	Weak transcription	HSMM	muscle
18	chr14:56024000-56043200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:56024200-56025200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:56024200-56038200	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:56024200-56045400	Weak transcription	Adipose Nuclei	Adipose
22	chr14:56024400-56024600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:56024400-56024600	Weak transcription	Fetal Heart	heart
24	chr14:56024400-56025000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:56024400-56025000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr14:56024400-56025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:56024400-56025600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:56024400-56025600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:56024400-56026000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:56024400-56026600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:56024400-56028400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:56024400-56028800	Weak transcription	HSMMtube	muscle
33	chr14:56024400-56029000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:56024400-56029200	Weak transcription	Brain Anterior Caudate	brain
35	chr14:56024400-56032400	Weak transcription	Fetal Kidney	kidney
36	chr14:56024400-56035200	Weak transcription	A549	lung
37	chr14:56024400-56038200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:56024400-56039000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:56024400-56039400	Weak transcription	Brain Angular Gyrus	brain
40	chr14:56024400-56039400	Weak transcription	Fetal Stomach	stomach
41	chr14:56024400-56039600	Weak transcription	Pancreas	Pancrea
42	chr14:56024400-56043200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:56024400-56043600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:56024400-56043600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:56024400-56043600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:56024400-56045200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:56024400-56045200	Weak transcription	Ovary	ovary
48	chr14:56024400-56045400	Weak transcription	Hela-S3	cervix
49	chr14:56024400-56045400	Weak transcription	Osteobl	bone
50	chr14:56024400-56045800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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