Variant report

Variant	rs61408535
Chromosome Location	chr1:166834223-166834224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:166832911-166834617	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:166833957..166837285-chr1:166843976..166847028,5	MCF-7	breast:
2	chr1:166832382..166838058-chr1:166843027..166847962,8	MCF-7	breast:
3	chr1:166824337..166827192-chr1:166832491..166834290,2	MCF-7	breast:
4	chr1:166808610..166810800-chr1:166834167..166836603,3	MCF-7	breast:
5	chr1:166832615..166835438-chr1:166843952..166846940,5	K562	blood:
6	chr1:166833590..166835397-chr1:166840443..166842547,3	K562	blood:

No data

Variant related genes	Relation type
DUTP6	TF binding region
TADA1	TF binding region
ENSG00000143157	Chromatin interaction
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10800267	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10800268	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10800269	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10800271	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10800273	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10918586	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10918587	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12028246	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12029367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12032642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12039764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12117020	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12122547	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476348	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476350	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17331024	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2232521	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35622400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738209	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3753910	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657607	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6427038	0.83[ASN][1000 genomes]
rs6675033	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6675153	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6675750	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6677387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688277	0.80[ASN][1000 genomes]
rs6690192	0.82[ASN][1000 genomes]
rs6691431	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6718	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs742006	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7531189	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532247	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7543998	0.88[EUR][1000 genomes]
rs7548191	0.90[EUR][1000 genomes]
rs7554414	0.88[EUR][1000 genomes]
rs760537	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs61408535	DUTP6	cis	Adipose Subcutaneous	GTEx
rs61408535	DUTP6	cis	Esophagus Muscularis	GTEx
rs61408535	MAEL	cis	Esophagus Muscularis	GTEx
rs61408535	DUTP6	cis	Thyroid	GTEx
rs61408535	DUTP6	cis	lung	GTEx
rs61408535	DUTP6	cis	Muscle Skeletal	GTEx
rs61408535	DUTP6	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166809600-166844400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:166810600-166834800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:166810600-166838800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:166810800-166835200	Strong transcription	K562	blood
5	chr1:166810800-166839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:166810800-166839200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:166811000-166835600	Strong transcription	Primary B cells from cord blood	blood
8	chr1:166811200-166834600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:166811200-166839800	Strong transcription	Primary T cells from cord blood	blood
10	chr1:166811800-166838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:166811800-166838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:166812000-166838400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:166812000-166838800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:166812200-166838800	Strong transcription	Fetal Thymus	thymus
15	chr1:166813200-166834600	Strong transcription	Placenta	Placenta
16	chr1:166813200-166840600	Strong transcription	Dnd41	blood
17	chr1:166813400-166838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:166813600-166838600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:166813600-166839200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr1:166813800-166838400	Strong transcription	Fetal Intestine Large	intestine
21	chr1:166814200-166834600	Strong transcription	Adipose Nuclei	Adipose
22	chr1:166814200-166838800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:166814400-166834400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:166814400-166835800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:166814800-166834600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:166814800-166838200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:166815200-166838400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr1:166815400-166838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:166819400-166841400	Weak transcription	Stomach Mucosa	stomach
30	chr1:166819600-166838400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:166819800-166842600	Weak transcription	Small Intestine	intestine
32	chr1:166821200-166835800	Strong transcription	Fetal Brain Female	brain
33	chr1:166824400-166837200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:166824600-166838200	Strong transcription	Fetal Intestine Small	intestine
35	chr1:166825000-166844400	Weak transcription	HSMMtube	muscle
36	chr1:166825600-166839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:166825800-166838000	Strong transcription	HepG2	liver
38	chr1:166825800-166838800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:166826800-166837400	Weak transcription	HSMM	muscle
40	chr1:166827000-166837600	Weak transcription	NHLF	lung
41	chr1:166827000-166840800	Weak transcription	Psoas Muscle	Psoas
42	chr1:166828200-166837400	Weak transcription	Colonic Mucosa	Colon
43	chr1:166828600-166838400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:166828800-166835600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:166829200-166834400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:166829200-166835600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:166829200-166836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:166829200-166837400	Weak transcription	Brain Germinal Matrix	brain
49	chr1:166829200-166837600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:166829200-166837800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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