Variant report

Variant	rs2950972
Chromosome Location	chr3:111043127-111043128
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	chr3:111042529..111044033-chr3:111050844..111053535,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2675579	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2698360	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2932072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2950968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2950970	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2971361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2971362	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57101693	1.00[EUR][1000 genomes]
rs73852301	1.00[EUR][1000 genomes]
rs73855525	1.00[EUR][1000 genomes]
rs73855528	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	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111033600-111044200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:111034800-111043600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:111035400-111044200	Weak transcription	HSMMtube	muscle
4	chr3:111040400-111043200	Enhancers	Adipose Nuclei	Adipose
5	chr3:111041000-111043400	Weak transcription	HMEC	breast
6	chr3:111041000-111043400	Weak transcription	HSMM	muscle
7	chr3:111041000-111043600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:111041000-111045000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:111041600-111047200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:111042000-111043800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr3:111042000-111044400	Enhancers	Primary B cells from peripheral blood	blood
12	chr3:111042200-111044000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:111042200-111044000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:111042600-111043200	Enhancers	Stomach Mucosa	stomach
15	chr3:111042600-111043600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr3:111042600-111043600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr3:111042600-111044000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:111042600-111044400	Flanking Active TSS	Dnd41	blood
19	chr3:111042800-111043200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr3:111042800-111043200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:111042800-111043200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr3:111042800-111043400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:111042800-111043800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr3:111042800-111043800	Active TSS	Primary T cells fromperipheralblood	blood
25	chr3:111042800-111043800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:111042800-111043800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr3:111042800-111043800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:111042800-111044000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr3:111042800-111044000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:111042800-111044200	Enhancers	Primary B cells from cord blood	blood
31	chr3:111043000-111043400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr3:111043000-111043400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:111043000-111043400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:111043000-111043400	Flanking Active TSS	Fetal Thymus	thymus
35	chr3:111043000-111043400	Active TSS	Thymus	Thymus
36	chr3:111043000-111043600	Enhancers	Primary hematopoietic stem cells	blood
37	chr3:111043000-111043600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr3:111043000-111043800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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