Variant report

Variant	rs3006994
Chromosome Location	chr1:114574233-114574234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114569420..114571718-chr1:114573610..114578040,4	MCF-7	breast:
2	chr1:114572795..114577655-chr1:114580622..114587867,10	MCF-7	breast:
3	chr1:114573784..114577041-chr1:114577163..114579413,3	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10776776	0.98[ASN][1000 genomes]
rs10776777	0.98[ASN][1000 genomes]
rs10858028	0.82[EUR][1000 genomes]
rs11102721	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11102722	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1330700	1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1394075	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1587773	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1604781	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910486	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938317	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2938321	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2938324	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2938325	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2938334	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2938335	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2938336	0.98[ASN][1000 genomes]
rs2938337	0.98[ASN][1000 genomes]
rs2938338	0.98[ASN][1000 genomes]
rs2938339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938340	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs2938341	0.98[ASN][1000 genomes]
rs2938342	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938343	0.93[ASN][1000 genomes]
rs2938344	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2938345	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938349	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2938350	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2938351	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2938353	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3006985	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3006986	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3006991	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3006992	0.98[ASN][1000 genomes]
rs3006993	0.91[ASN][1000 genomes]
rs3006995	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3006997	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007004	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3007005	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3007007	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3007010	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3007012	0.87[EUR][1000 genomes]
rs3007013	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4240537	0.83[EUR][1000 genomes]
rs514647	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs529171	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs548040	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114566800-114574400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:114567000-114575200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:114567200-114575000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:114569800-114575000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:114569800-114575000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:114569800-114575000	Weak transcription	Psoas Muscle	Psoas
7	chr1:114569800-114575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:114570200-114575000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:114570400-114574800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:114571000-114575200	Weak transcription	HSMMtube	muscle
11	chr1:114572400-114574400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:114572800-114575000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:114573400-114574600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:114573400-114575200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:114574000-114574600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:114574000-114575200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:114574200-114574400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:114574200-114574400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:114574200-114574600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:114574200-114574600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:114574200-114574600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:114574200-114575000	Active TSS	H1 Cell Line	embryonic stem cell

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