Variant report

Variant	rs7558720
Chromosome Location	chr2:111597291-111597292
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	chr2:111596367..111598097-chr2:111601001..111603633,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12472162	0.84[ASN][1000 genomes]
rs12615235	0.82[ASN][1000 genomes]
rs13017495	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17524344	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs34918196	1.00[EUR][1000 genomes]
rs35174008	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35595659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35723285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6736351	1.00[EUR][1000 genomes]
rs6748752	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs71431125	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74182834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74182835	1.00[EUR][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111562800-111604000	Weak transcription	Lung	lung
2	chr2:111591600-111597400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:111592000-111598400	Enhancers	Fetal Thymus	thymus
4	chr2:111593200-111598800	Weak transcription	Pancreas	Pancrea
5	chr2:111593400-111601200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:111594000-111598800	Enhancers	Fetal Muscle Leg	muscle
7	chr2:111595400-111597400	Enhancers	Thymus	Thymus
8	chr2:111595600-111597600	Enhancers	Fetal Kidney	kidney
9	chr2:111596000-111597600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:111596000-111597600	Enhancers	Fetal Lung	lung
11	chr2:111596200-111597400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:111596400-111599600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:111596400-111601000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:111596400-111601200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:111596400-111603400	Weak transcription	Fetal Brain Male	brain
16	chr2:111596400-111611600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:111596600-111597600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:111596600-111598400	Enhancers	Dnd41	blood
19	chr2:111596600-111601200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:111596800-111598200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:111596800-111600400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:111596800-111601000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:111596800-111601200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:111596800-111609600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:111597000-111600800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:111597000-111611400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:111597200-111597400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:111597200-111600800	Weak transcription	Primary T cells from cord blood	blood
29	chr2:111597200-111601000	Weak transcription	Fetal Stomach	stomach
30	chr2:111597200-111604000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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