Variant report

Variant	rs2950975
Chromosome Location	chr3:111032648-111032649
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	chr3:111030932..111033731-chr3:111040332..111041984,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1352502	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1387225	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2634535	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2698347	0.98[ASN][1000 genomes]
rs2698354	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2698355	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932040	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932041	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2932042	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2950974	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2958081	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2971351	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2971352	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7648997	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979870	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs997029	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv829675	chr3:110885605-111101858	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv877339	chr3:110889974-111070554	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111028200-111033200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr3:111028600-111034200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr3:111028800-111034000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:111028800-111034000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:111028800-111034200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr3:111028800-111034200	Enhancers	Fetal Thymus	thymus
7	chr3:111029000-111034400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr3:111029000-111034400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr3:111029200-111034000	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:111029200-111034200	Enhancers	Primary T cells from cord blood	blood
11	chr3:111029400-111034200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:111029400-111034200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr3:111029400-111034200	Enhancers	Thymus	Thymus
14	chr3:111029800-111035200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:111030400-111033200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:111030600-111033000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:111030800-111033200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:111031000-111032800	Weak transcription	HSMMtube	muscle
19	chr3:111031000-111033000	Weak transcription	Stomach Mucosa	stomach
20	chr3:111031000-111033200	Weak transcription	HSMM	muscle
21	chr3:111031000-111033200	Weak transcription	NH-A	brain
22	chr3:111031000-111033800	Weak transcription	Fetal Intestine Small	intestine
23	chr3:111031000-111034600	Weak transcription	Small Intestine	intestine
24	chr3:111031200-111032800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:111031200-111033200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:111031200-111033400	Weak transcription	Fetal Lung	lung
27	chr3:111031200-111034200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:111031200-111041800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:111031400-111033600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:111031400-111042600	Enhancers	Dnd41	blood
31	chr3:111031600-111033800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:111032400-111033400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:111032600-111033000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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