Variant report

Variant	rs1969232
Chromosome Location	chr2:111597636-111597637
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	chr2:111596367..111598097-chr2:111601001..111603633,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10179923	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10180020	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10180446	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12476878	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12711785	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13019266	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1533295	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533298	0.95[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1533300	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1554006	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1969233	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4849134	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4849135	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs66782223	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7576541	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7588925	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9917154	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3427374	chr2:111593681-111597879	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111562800-111604000	Weak transcription	Lung	lung
2	chr2:111592000-111598400	Enhancers	Fetal Thymus	thymus
3	chr2:111593200-111598800	Weak transcription	Pancreas	Pancrea
4	chr2:111593400-111601200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:111594000-111598800	Enhancers	Fetal Muscle Leg	muscle
6	chr2:111596400-111599600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:111596400-111601000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:111596400-111601200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:111596400-111603400	Weak transcription	Fetal Brain Male	brain
10	chr2:111596400-111611600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:111596600-111598400	Enhancers	Dnd41	blood
12	chr2:111596600-111601200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:111596800-111598200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:111596800-111600400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:111596800-111601000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:111596800-111601200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:111596800-111609600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:111597000-111600800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:111597000-111611400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:111597200-111600800	Weak transcription	Primary T cells from cord blood	blood
21	chr2:111597200-111601000	Weak transcription	Fetal Stomach	stomach
22	chr2:111597200-111604000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:111597400-111597800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:111597400-111599400	Weak transcription	Thymus	Thymus
25	chr2:111597400-111600800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:111597600-111597800	Enhancers	Fetal Muscle Trunk	muscle
27	chr2:111597600-111601000	Weak transcription	Fetal Lung	lung
28	chr2:111597600-111604000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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