Variant report

Variant	rs7546038
Chromosome Location	chr1:98242096-98242097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10735795	0.82[ASW][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs10747494	0.91[ASW][hapmap];1.00[EUR][1000 genomes]
rs10875119	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs11165918	0.90[AFR][1000 genomes]
rs11165926	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs1333721	0.91[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333722	1.00[EUR][1000 genomes]
rs17100628	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116923	1.00[EUR][1000 genomes]
rs17116940	1.00[EUR][1000 genomes]
rs17116949	1.00[EUR][1000 genomes]
rs17116957	1.00[EUR][1000 genomes]
rs17116962	1.00[EUR][1000 genomes]
rs17117047	1.00[EUR][1000 genomes]
rs17117167	0.82[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117173	0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117175	0.82[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117176	0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117179	0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117181	0.91[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117194	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117198	0.82[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117203	0.82[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117207	0.91[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117211	0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117214	0.91[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117218	0.91[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117228	0.91[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117234	0.91[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117251	0.91[ASW][hapmap];0.94[LWK][hapmap];0.86[MKK][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855376	0.91[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4269803	0.82[ASW][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs4304628	0.82[ASW][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs4348763	0.82[ASW][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs4351683	1.00[EUR][1000 genomes]
rs4367807	0.91[YRI][hapmap]
rs4592283	1.00[EUR][1000 genomes]
rs55989986	1.00[EUR][1000 genomes]
rs56996093	0.96[AFR][1000 genomes]
rs57429463	1.00[EUR][1000 genomes]
rs58211735	1.00[EUR][1000 genomes]
rs58615096	1.00[EUR][1000 genomes]
rs59161138	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6604092	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs6604119	1.00[EUR][1000 genomes]
rs74105265	1.00[EUR][1000 genomes]
rs74105297	1.00[EUR][1000 genomes]
rs74105459	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105460	1.00[EUR][1000 genomes]
rs74105461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105502	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107711	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74107713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108221	1.00[EUR][1000 genomes]
rs74108405	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74108407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7511709	0.82[ASW][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7545029	0.82[ASW][hapmap];0.88[LWK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs7553943	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9324376	1.00[EUR][1000 genomes]
rs9324377	1.00[EUR][1000 genomes]
rs9661407	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs9727974	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs9729900	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv871740	chr1:98165091-98322379	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv871472	chr1:98165091-98342417	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv870596	chr1:98165091-98365310	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv871050	chr1:98187755-98365310	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1799805	chr1:98198206-98349028	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv871651	chr1:98200719-98365310	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98177200-98254600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:98183600-98279600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:98187200-98243400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:98204000-98256600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:98204200-98257000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:98207000-98254800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:98228400-98255200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:98231200-98257800	Weak transcription	Small Intestine	intestine
9	chr1:98231400-98245200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:98236400-98252000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:98238000-98243600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:98238600-98256600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:98239800-98249400	Weak transcription	Adipose Nuclei	Adipose
14	chr1:98240000-98247400	Weak transcription	Primary T cells from cord blood	blood
15	chr1:98240000-98248200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:98240200-98248200	Weak transcription	Left Ventricle	heart
17	chr1:98240200-98251600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:98240200-98256800	Weak transcription	NHDF-Ad	bronchial
19	chr1:98240200-98262400	Weak transcription	Fetal Lung	lung
20	chr1:98240400-98247600	Weak transcription	Primary B cells from cord blood	blood
21	chr1:98240400-98309800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:98240600-98256800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:98240800-98242200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:98240800-98243600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:98241200-98242200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:98241600-98242400	Strong transcription	HSMM	muscle
27	chr1:98241800-98242200	Strong transcription	Dnd41	blood
28	chr1:98241800-98242800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:98241800-98243400	Strong transcription	Liver	Liver
30	chr1:98241800-98243600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:98241800-98256800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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