Variant report

Variant	rs2075947
Chromosome Location	chr1:166831404-166831405
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166817024..166819556-chr1:166829246..166831714,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs10800267	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10800268	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10800269	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800271	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10800273	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10918586	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10918587	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582566	0.87[GIH][hapmap]
rs12028246	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12029327	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029367	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039764	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117020	0.82[ASW][hapmap];0.95[CEU][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12122547	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476350	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17331024	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232521	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2272793	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35622400	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3738209	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3753910	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657607	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61408535	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6427038	0.82[ASN][1000 genomes]
rs6675033	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6675153	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6675750	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6677387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6690192	0.92[GIH][hapmap];0.83[MEX][hapmap];0.80[ASN][1000 genomes]
rs6691431	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6718	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs742006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7531189	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7532247	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7543998	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs7548191	0.95[CEU][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs7554414	0.88[EUR][1000 genomes]
rs760537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2075947	UHMK1	cis	cerebellum	SCAN
rs2075947	DUTP6	cis	lung	GTEx
rs2075947	DUTP6	cis	Artery Tibial	GTEx
rs2075947	DUTP6	cis	Esophagus Muscularis	GTEx
rs2075947	DUTP6	cis	Muscle Skeletal	GTEx
rs2075947	MAEL	cis	parietal	SCAN
rs2075947	DUTP6	cis	Adipose Subcutaneous	GTEx
rs2075947	DUTP6	cis	Thyroid	GTEx
rs2075947	MAEL	cis	lymphoblastoid	seeQTL

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	chr1:166810800-166832400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:166810800-166834200	Strong transcription	Fetal Stomach	stomach
6	chr1:166810800-166835200	Strong transcription	K562	blood
7	chr1:166810800-166839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:166810800-166839200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:166811000-166835600	Strong transcription	Primary B cells from cord blood	blood
10	chr1:166811200-166834600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:166811200-166839800	Strong transcription	Primary T cells from cord blood	blood
12	chr1:166811800-166838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:166811800-166838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:166812000-166838400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:166812000-166838800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:166812200-166838800	Strong transcription	Fetal Thymus	thymus
17	chr1:166813000-166834200	Strong transcription	Hela-S3	cervix
18	chr1:166813200-166832000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:166813200-166834600	Strong transcription	Placenta	Placenta
20	chr1:166813200-166840600	Strong transcription	Dnd41	blood
21	chr1:166813400-166838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:166813600-166838600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:166813600-166839200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr1:166813800-166838400	Strong transcription	Fetal Intestine Large	intestine
25	chr1:166814200-166834000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:166814200-166834600	Strong transcription	Adipose Nuclei	Adipose
27	chr1:166814200-166838800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:166814400-166831600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:166814400-166833800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:166814400-166834200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:166814400-166834400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:166814400-166835800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:166814600-166834200	Strong transcription	Osteobl	bone
34	chr1:166814800-166834600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:166814800-166838200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:166815000-166833800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:166815200-166838400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:166815400-166838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:166819400-166841400	Weak transcription	Stomach Mucosa	stomach
40	chr1:166819600-166838400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:166819800-166842600	Weak transcription	Small Intestine	intestine
42	chr1:166821200-166835800	Strong transcription	Fetal Brain Female	brain
43	chr1:166823000-166834000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:166823200-166834200	Strong transcription	Thymus	Thymus
45	chr1:166824400-166837200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:166824600-166838200	Strong transcription	Fetal Intestine Small	intestine
47	chr1:166825000-166834200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:166825000-166844400	Weak transcription	HSMMtube	muscle
49	chr1:166825200-166832600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:166825600-166839200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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