Variant report

Variant	rs997283
Chromosome Location	chr1:185311722-185311723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185310478..185312193-chr1:185353516..185355046,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10158623	0.86[EUR][1000 genomes]
rs10174	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10798004	0.92[EUR][1000 genomes]
rs10798006	0.92[EUR][1000 genomes]
rs10911702	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10911704	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10911707	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10911708	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12026391	0.85[EUR][1000 genomes]
rs12044943	0.81[EUR][1000 genomes]
rs17641003	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2152707	0.80[EUR][1000 genomes]
rs2281416	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2378909	0.83[EUR][1000 genomes]
rs6656019	0.82[EUR][1000 genomes]
rs6682891	0.83[EUR][1000 genomes]
rs66845254	0.81[EUR][1000 genomes]
rs6687774	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7123	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs726567	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7545878	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185308800-185317600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:185309400-185315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:185309600-185312800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:185309600-185313800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:185309600-185314800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:185309600-185314800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:185309600-185315000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:185309600-185315000	Weak transcription	GM12878-XiMat	blood
9	chr1:185309600-185315200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:185309800-185313600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:185310200-185314400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:185310200-185315200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:185310200-185315200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:185310200-185315400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:185310400-185313200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:185310400-185315200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:185310600-185312800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:185310600-185314400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:185310800-185314600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:185310800-185315200	Weak transcription	Primary T cells from cord blood	blood
21	chr1:185310800-185315200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:185310800-185318600	Enhancers	HepG2	liver
23	chr1:185311000-185314200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:185311000-185315200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:185311000-185315400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:185311000-185315600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:185311400-185312000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:185311400-185312800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:185311400-185313200	Enhancers	Ovary	ovary
30	chr1:185311400-185313800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:185311400-185313800	Enhancers	Brain Hippocampus Middle	brain
32	chr1:185311600-185312600	Enhancers	HUES64 Cell Line	embryonic stem cell

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