Variant report

Variant	rs59723054
Chromosome Location	chr17:15146038-15146039
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15139705..15141624-chr17:15144455..15146286,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TEKT3-1	chr17:15143744-15147713	ENSG00000265308.1

Variant related genes	Relation type
ENSG00000238806	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951239	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215236	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3744333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785646	0.80[EUR][1000 genomes]
rs3785653	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785654	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826362	0.80[EUR][1000 genomes]
rs6502439	0.91[EUR][1000 genomes]
rs7215851	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221491	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812936	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812942	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73977960	0.94[EUR][1000 genomes]
rs73977961	0.94[EUR][1000 genomes]
rs740649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9889622	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9899379	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15132200-15158800	Weak transcription	Hela-S3	cervix
2	chr17:15134400-15151000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:15135800-15151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:15135800-15160200	Weak transcription	Pancreas	Pancrea
5	chr17:15137000-15151200	Weak transcription	Fetal Intestine Small	intestine
6	chr17:15137200-15158000	Weak transcription	Stomach Mucosa	stomach
7	chr17:15139000-15152800	Weak transcription	Colonic Mucosa	Colon
8	chr17:15139800-15148400	Weak transcription	Right Atrium	heart
9	chr17:15139800-15151200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:15139800-15160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:15140200-15147800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:15140200-15151000	Weak transcription	HMEC	breast
13	chr17:15142000-15146200	Strong transcription	A549	lung
14	chr17:15142600-15154000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:15142600-15159000	Weak transcription	Fetal Kidney	kidney
16	chr17:15142600-15159000	Weak transcription	NH-A	brain
17	chr17:15142800-15159200	Weak transcription	Fetal Brain Male	brain
18	chr17:15143000-15147800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr17:15143000-15148200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:15143000-15148400	Weak transcription	Spleen	Spleen
21	chr17:15143000-15150800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr17:15143000-15150800	Weak transcription	NHLF	lung
23	chr17:15143000-15151000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:15143000-15151200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr17:15143000-15151200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr17:15143000-15151200	Weak transcription	Osteobl	bone
27	chr17:15143000-15151400	Weak transcription	HUVEC	blood vessel
28	chr17:15143000-15152400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:15143000-15152400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr17:15143000-15154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:15143000-15156800	Weak transcription	Gastric	stomach
32	chr17:15143200-15146400	Strong transcription	Adipose Nuclei	Adipose
33	chr17:15143200-15147400	Weak transcription	Fetal Lung	lung
34	chr17:15143200-15148400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr17:15143200-15151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:15143200-15151000	Weak transcription	Fetal Intestine Large	intestine
37	chr17:15143400-15148000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:15143600-15148400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr17:15144000-15150600	Weak transcription	Placenta	Placenta
40	chr17:15144200-15148000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr17:15144200-15148200	Weak transcription	Brain Substantia Nigra	brain
42	chr17:15144200-15148200	Weak transcription	Fetal Stomach	stomach
43	chr17:15144200-15148400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr17:15144200-15148400	Weak transcription	Left Ventricle	heart
45	chr17:15144200-15148400	Weak transcription	Psoas Muscle	Psoas
46	chr17:15144200-15148400	Weak transcription	HSMM	muscle
47	chr17:15144200-15152600	Weak transcription	Lung	lung
48	chr17:15144400-15148000	Weak transcription	Brain Anterior Caudate	brain
49	chr17:15144400-15148000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr17:15144400-15148200	Weak transcription	Ovary	ovary

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