Variant report

Variant	rs4657607
Chromosome Location	chr1:166828307-166828308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166812785..166814397-chr1:166827884..166830540,2	MCF-7	breast:
2	chr1:166827299..166830361-chr1:166843078..166845825,3	MCF-7	breast:
3	chr1:166817577..166820146-chr1:166827055..166828748,2	K562	blood:

Variant related genes	Relation type
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10800267	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10800268	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10800269	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800271	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10800273	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10918586	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10918587	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12028246	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12029327	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12029367	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12032642	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12039764	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12117020	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12122547	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476348	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476349	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476350	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17331024	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075947	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2232521	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272793	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35622400	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3738209	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3753910	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61408535	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6427038	0.81[ASN][1000 genomes]
rs6675033	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6675153	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675750	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6677387	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6718	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs742006	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531189	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7532247	0.86[AMR][1000 genomes]
rs7543998	0.91[EUR][1000 genomes]
rs7548191	0.93[EUR][1000 genomes]
rs7554414	0.91[EUR][1000 genomes]
rs760537	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4657607	DUTP6	cis	Thyroid	GTEx
rs4657607	DUTP6	cis	lung	GTEx
rs4657607	DUTP6	cis	Adipose Subcutaneous	GTEx
rs4657607	DUTP6	cis	Artery Aorta	GTEx
rs4657607	DUTP6	cis	Artery Tibial	GTEx
rs4657607	MAEL	cis	Thyroid	GTEx
rs4657607	DUTP6	cis	Muscle Skeletal	GTEx
rs4657607	DUTP6	cis	Esophagus Muscularis	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	chr1:166810400-166828600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:166810600-166829000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:166810600-166829400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:166810600-166834800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:166810600-166838800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:166810800-166828600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:166810800-166828800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:166810800-166828800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:166810800-166832400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:166810800-166834200	Strong transcription	Fetal Stomach	stomach
12	chr1:166810800-166835200	Strong transcription	K562	blood
13	chr1:166810800-166839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:166810800-166839200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:166811000-166835600	Strong transcription	Primary B cells from cord blood	blood
16	chr1:166811200-166834600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:166811200-166839800	Strong transcription	Primary T cells from cord blood	blood
18	chr1:166811400-166829800	Strong transcription	Primary hematopoietic stem cells	blood
19	chr1:166811800-166838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:166811800-166838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:166812000-166838400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:166812000-166838800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:166812200-166838800	Strong transcription	Fetal Thymus	thymus
24	chr1:166812800-166828800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:166813000-166834200	Strong transcription	Hela-S3	cervix
26	chr1:166813200-166832000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:166813200-166834600	Strong transcription	Placenta	Placenta
28	chr1:166813200-166840600	Strong transcription	Dnd41	blood
29	chr1:166813400-166838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:166813600-166838600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:166813600-166839200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:166813800-166830000	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:166813800-166838400	Strong transcription	Fetal Intestine Large	intestine
34	chr1:166814200-166829200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:166814200-166834000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:166814200-166834600	Strong transcription	Adipose Nuclei	Adipose
37	chr1:166814200-166838800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:166814400-166829600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:166814400-166829800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr1:166814400-166831600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:166814400-166833800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:166814400-166834200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:166814400-166834400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:166814400-166835800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr1:166814600-166834200	Strong transcription	Osteobl	bone
46	chr1:166814800-166834600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:166814800-166838200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:166815000-166833800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:166815200-166838400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr1:166815400-166838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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