Variant report

Variant	rs1039265
Chromosome Location	chr1:224840295-224840296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224838583..224840769-chr1:224842090..224844375,2	K562	blood:
2	chr1:224840003..224842948-chr1:224864305..224866677,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1036431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495227	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10915691	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10915693	1.00[CEU][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10915695	1.00[CEU][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1106233	0.81[CEU][hapmap]
rs11805320	0.80[CEU][hapmap];0.93[AMR][1000 genomes]
rs12058085	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12060334	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12062831	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12065840	1.00[CEU][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12068125	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12072810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12073052	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12077707	1.00[CEU][hapmap]
rs12079156	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12088524	1.00[CEU][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12092532	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12096245	0.81[CEU][hapmap]
rs12562581	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12565092	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12567125	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1337538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1369848	0.83[EUR][1000 genomes]
rs1465766	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1465767	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1499289	0.81[CEU][hapmap]
rs1532557	0.81[CEU][hapmap]
rs16850786	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4363402	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs61603030	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827113	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61827152	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6426147	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6695864	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7541279	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7554310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:224832800-224869000	Weak transcription	Dnd41	blood
4	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:224833400-224840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:224838400-224853200	Weak transcription	Psoas Muscle	Psoas
7	chr1:224839000-224840800	Enhancers	HMEC	breast
8	chr1:224839000-224840800	Enhancers	NHDF-Ad	bronchial
9	chr1:224839200-224840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:224839400-224840800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:224839400-224840800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:224839600-224840800	Enhancers	NHEK	skin
13	chr1:224839800-224840400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:224839800-224840400	Enhancers	Lung	lung
15	chr1:224839800-224840600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:224839800-224840600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:224839800-224840600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:224839800-224840600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:224839800-224840600	Enhancers	Ovary	ovary
20	chr1:224839800-224840600	Flanking Active TSS	NH-A	brain
21	chr1:224839800-224840600	Genic enhancers	NHLF	lung
22	chr1:224839800-224840800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:224839800-224840800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:224839800-224840800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:224839800-224840800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:224839800-224840800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:224839800-224840800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:224839800-224840800	Enhancers	HSMM	muscle
29	chr1:224839800-224841000	Enhancers	Pancreas	Pancrea
30	chr1:224840000-224840400	Enhancers	Right Atrium	heart
31	chr1:224840000-224840400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:224840000-224840600	Enhancers	Gastric	stomach
33	chr1:224840000-224840600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:224840000-224840600	Enhancers	A549	lung
35	chr1:224840000-224840800	Enhancers	Esophagus	oesophagus
36	chr1:224840000-224840800	Enhancers	Spleen	Spleen
37	chr1:224840200-224840400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:224840200-224840600	Enhancers	Adipose Nuclei	Adipose
39	chr1:224840200-224840600	Enhancers	Fetal Lung	lung
40	chr1:224840200-224840600	Enhancers	Left Ventricle	heart
41	chr1:224840200-224840600	Flanking Active TSS	HUVEC	blood vessel
42	chr1:224840200-224840600	Flanking Active TSS	Osteobl	bone
43	chr1:224840200-224840800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:224840200-224840800	Enhancers	Fetal Muscle Trunk	muscle

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