Variant report

Variant	rs698945
Chromosome Location	chr1:95011785-95011786
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	chr1:95011302..95013095-chr1:95017503..95019363,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10399782	1.00[EUR][1000 genomes]
rs1146475	1.00[EUR][1000 genomes]
rs1146478	1.00[EUR][1000 genomes]
rs1146479	1.00[EUR][1000 genomes]
rs1146506	1.00[EUR][1000 genomes]
rs1146516	1.00[EUR][1000 genomes]
rs11801203	1.00[EUR][1000 genomes]
rs11801251	1.00[EUR][1000 genomes]
rs12064943	1.00[EUR][1000 genomes]
rs12065028	1.00[EUR][1000 genomes]
rs12069536	1.00[EUR][1000 genomes]
rs1303136	1.00[EUR][1000 genomes]
rs1330856	1.00[EUR][1000 genomes]
rs1337856	1.00[EUR][1000 genomes]
rs1337857	1.00[EUR][1000 genomes]
rs1343483	1.00[EUR][1000 genomes]
rs1361124	1.00[EUR][1000 genomes]
rs1577920	1.00[EUR][1000 genomes]
rs1616972	1.00[EUR][1000 genomes]
rs1617363	1.00[EUR][1000 genomes]
rs1617719	1.00[EUR][1000 genomes]
rs1687921	1.00[EUR][1000 genomes]
rs1687925	1.00[EUR][1000 genomes]
rs1687926	1.00[EUR][1000 genomes]
rs1687929	1.00[EUR][1000 genomes]
rs1687938	1.00[EUR][1000 genomes]
rs1687939	1.00[EUR][1000 genomes]
rs1687942	1.00[EUR][1000 genomes]
rs1687945	1.00[EUR][1000 genomes]
rs1687953	1.00[EUR][1000 genomes]
rs1687958	1.00[EUR][1000 genomes]
rs1687959	1.00[EUR][1000 genomes]
rs1687960	1.00[EUR][1000 genomes]
rs1687967	1.00[EUR][1000 genomes]
rs1687969	1.00[EUR][1000 genomes]
rs1747656	1.00[EUR][1000 genomes]
rs1747658	1.00[EUR][1000 genomes]
rs1749540	1.00[EUR][1000 genomes]
rs1756263	1.00[EUR][1000 genomes]
rs1756264	1.00[EUR][1000 genomes]
rs1765616	1.00[EUR][1000 genomes]
rs1765624	1.00[EUR][1000 genomes]
rs1765625	1.00[EUR][1000 genomes]
rs1765631	1.00[EUR][1000 genomes]
rs1765633	1.00[EUR][1000 genomes]
rs1765634	1.00[EUR][1000 genomes]
rs1765638	1.00[EUR][1000 genomes]
rs1765639	1.00[EUR][1000 genomes]
rs1765642	1.00[EUR][1000 genomes]
rs1765653	1.00[EUR][1000 genomes]
rs1772902	1.00[EUR][1000 genomes]
rs1778210	1.00[EUR][1000 genomes]
rs2094824	1.00[EUR][1000 genomes]
rs2391471	1.00[EUR][1000 genomes]
rs2798944	1.00[EUR][1000 genomes]
rs28494821	1.00[EUR][1000 genomes]
rs2893296	1.00[EUR][1000 genomes]
rs2971948	1.00[EUR][1000 genomes]
rs479627	1.00[EUR][1000 genomes]
rs484420	1.00[EUR][1000 genomes]
rs4847315	1.00[EUR][1000 genomes]
rs512648	1.00[EUR][1000 genomes]
rs513976	1.00[EUR][1000 genomes]
rs529642	1.00[EUR][1000 genomes]
rs598962	1.00[EUR][1000 genomes]
rs610088	1.00[EUR][1000 genomes]
rs630382	1.00[EUR][1000 genomes]
rs6660037	1.00[EUR][1000 genomes]
rs7417304	1.00[EUR][1000 genomes]
rs768967	1.00[EUR][1000 genomes]
rs860909	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95008200-95015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:95008200-95015600	Weak transcription	Pancreas	Pancrea
3	chr1:95008200-95018000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:95008200-95019800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:95008400-95011800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:95008800-95014800	Weak transcription	HepG2	liver
7	chr1:95008800-95015000	Weak transcription	Fetal Kidney	kidney
8	chr1:95008800-95015600	Weak transcription	Esophagus	oesophagus
9	chr1:95008800-95015600	Weak transcription	Placenta	Placenta
10	chr1:95008800-95016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:95009600-95013600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:95009800-95012000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:95009800-95012000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:95009800-95016200	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:95010200-95017600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:95010400-95017800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:95010600-95012000	Enhancers	NHEK	skin
18	chr1:95010600-95015000	Weak transcription	Stomach Mucosa	stomach
19	chr1:95010600-95015600	Weak transcription	HSMMtube	muscle
20	chr1:95010800-95011800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:95010800-95013600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:95010800-95016600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:95011000-95014600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:95011000-95016400	Weak transcription	Fetal Heart	heart
25	chr1:95011000-95017200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:95011000-95019000	Weak transcription	HSMM	muscle
27	chr1:95011200-95013200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:95011200-95014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:95011600-95018600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:95011600-95025400	Weak transcription	NHLF	lung

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