Variant report

Variant	rs11124550
Chromosome Location	chr2:37062315-37062316
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	chr2:37053268..37055932-chr2:37062190..37065035,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1015599	1.00[EUR][1000 genomes]
rs1019311	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11892892	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896317	1.00[EUR][1000 genomes]
rs2041829	0.87[AMR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2160336	0.87[AMR][1000 genomes]
rs2160378	1.00[EUR][1000 genomes]
rs2247610	1.00[EUR][1000 genomes]
rs2254704	0.82[YRI][hapmap]
rs2540921	1.00[EUR][1000 genomes]
rs2540927	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2540928	1.00[EUR][1000 genomes]
rs2540932	1.00[EUR][1000 genomes]
rs2540934	1.00[YRI][hapmap]
rs2540935	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691113	1.00[EUR][1000 genomes]
rs2691117	1.00[EUR][1000 genomes]
rs2691121	1.00[EUR][1000 genomes]
rs2706810	1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2706816	1.00[EUR][1000 genomes]
rs2717498	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717499	1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717506	1.00[EUR][1000 genomes]
rs2717513	1.00[EUR][1000 genomes]
rs2717514	1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717515	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs2717517	1.00[EUR][1000 genomes]
rs2717521	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs2949393	1.00[EUR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61561618	1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6734109	1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6750356	1.00[EUR][1000 genomes]
rs6758058	1.00[EUR][1000 genomes]
rs6758960	0.87[AMR][1000 genomes]
rs723674	1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs7593630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs964853	0.82[YRI][hapmap];1.00[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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37052000-37062400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:37060800-37070000	Weak transcription	HSMM	muscle
3	chr2:37061000-37063000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:37061000-37063400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:37061200-37063000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:37061400-37063000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:37061400-37063000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:37061400-37067200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:37061400-37067400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:37061800-37062400	Enhancers	Brain Germinal Matrix	brain
11	chr2:37061800-37062800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:37061800-37062800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr2:37061800-37063000	Enhancers	Primary T cells from cord blood	blood
14	chr2:37061800-37063000	Enhancers	Dnd41	blood
15	chr2:37062000-37062400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:37062000-37062800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:37062200-37062600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:37062200-37062800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:37062200-37062800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:37062200-37063000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:37062200-37063000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:37062200-37063000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:37062200-37063200	Enhancers	HUVEC	blood vessel

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