Variant report

Variant	rs7580840
Chromosome Location	chr2:231185419-231185420
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	chr2:231183815..231186331-chr2:231189683..231191890,3	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10203146	0.81[AFR][1000 genomes]
rs10498248	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10498249	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11885965	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11886029	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11887130	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11887432	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11896814	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11903152	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12464193	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12464229	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12466273	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16827035	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4973310	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4973311	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4973312	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55778512	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6726527	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6727201	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3417154	chr2:231159789-231258938	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3348338	chr2:231160124-231259498	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875944	chr2:231162998-231189047	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv875945	chr2:231172642-231267925	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv869708	chr2:231173700-231267616	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1004183	chr2:231174420-231258603	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3486129	chr2:231175581-231265831	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3486131	chr2:231175581-231265831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1013738	chr2:231176856-231258603	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv584667	chr2:231177822-231258450	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv460119	chr2:231178876-231258450	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv584668	chr2:231178876-231258450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv1001929	chr2:231179884-231258603	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1006206	chr2:231179884-231268938	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv584669	chr2:231183321-231258150	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv584670	chr2:231183786-231241276	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231182600-231185800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:231184000-231187000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:231184000-231187600	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:231184000-231187800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:231184000-231188600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:231184000-231188600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:231184200-231191200	Weak transcription	HMEC	breast
8	chr2:231184400-231185800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:231184400-231185800	Weak transcription	Spleen	Spleen
10	chr2:231184400-231187000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:231184400-231187200	Enhancers	Primary T cells from cord blood	blood
12	chr2:231184600-231187400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:231184800-231185800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:231184800-231185800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:231184800-231186400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:231184800-231186600	Enhancers	Dnd41	blood
17	chr2:231184800-231187200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:231184800-231187400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:231184800-231187600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:231184800-231191200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:231184800-231191400	Weak transcription	Right Atrium	heart
22	chr2:231185200-231185600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:231185200-231185600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:231185200-231185600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:231185200-231185600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:231185200-231185600	Weak transcription	Fetal Thymus	thymus
27	chr2:231185200-231185600	Weak transcription	Thymus	Thymus
28	chr2:231185200-231185800	Weak transcription	Primary B cells from cord blood	blood

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