Variant report

Variant	rs2493393
Chromosome Location	chr1:120471424-120471425
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	chr1:120467969..120469676-chr1:120469960..120472021,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17024243	1.00[EUR][1000 genomes]
rs17024274	1.00[EUR][1000 genomes]
rs2453043	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453045	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453054	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453057	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453060	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493395	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493397	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493399	1.00[EUR][1000 genomes]
rs2493409	1.00[ASW][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641341	1.00[EUR][1000 genomes]
rs2691751	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2793828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2793924	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34996202	1.00[EUR][1000 genomes]
rs4274109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59055697	1.00[EUR][1000 genomes]
rs60594933	1.00[EUR][1000 genomes]
rs6673881	1.00[EUR][1000 genomes]
rs6689706	1.00[EUR][1000 genomes]
rs6690032	1.00[EUR][1000 genomes]
rs6697236	1.00[EUR][1000 genomes]
rs74115097	1.00[EUR][1000 genomes]
rs74115360	1.00[EUR][1000 genomes]
rs74115365	1.00[EUR][1000 genomes]
rs7536072	1.00[EUR][1000 genomes]
rs7537153	1.00[EUR][1000 genomes]
rs7537385	1.00[EUR][1000 genomes]
rs7540526	1.00[EUR][1000 genomes]
rs835566	1.00[EUR][1000 genomes]
rs835567	1.00[EUR][1000 genomes]
rs835577	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active 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	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120450000-120473000	Strong transcription	HSMM	muscle
2	chr1:120451600-120480000	Weak transcription	Psoas Muscle	Psoas
3	chr1:120452000-120485600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:120452600-120472800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:120453000-120473200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:120453000-120476400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:120453000-120483600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:120453200-120475600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:120453400-120472600	Strong transcription	Osteobl	bone
10	chr1:120453400-120476400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:120454400-120471600	Strong transcription	NH-A	brain
12	chr1:120454400-120472400	Strong transcription	NHDF-Ad	bronchial
13	chr1:120454400-120472600	Strong transcription	Primary B cells from cord blood	blood
14	chr1:120454800-120472800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr1:120454800-120473200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:120455200-120472000	Strong transcription	Placenta	Placenta
17	chr1:120455400-120472200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:120455400-120472800	Strong transcription	Primary hematopoietic stem cells	blood
19	chr1:120455400-120472800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:120455400-120472800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:120455400-120472800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:120455400-120475800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:120455600-120472000	Strong transcription	Fetal Lung	lung
24	chr1:120455600-120472200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:120455600-120472600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:120455600-120472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:120455600-120472800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr1:120455600-120473400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:120455600-120474000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:120455800-120472800	Strong transcription	NHLF	lung
31	chr1:120455800-120474200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:120455800-120486800	Strong transcription	Liver	Liver
33	chr1:120456000-120472600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:120456000-120472600	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr1:120456000-120472800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:120456000-120472800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:120456000-120472800	Strong transcription	Dnd41	blood
38	chr1:120456000-120473000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:120456200-120472400	Strong transcription	Rectal Smooth Muscle	rectum
40	chr1:120456200-120472600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:120456200-120472800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:120456200-120488000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:120456400-120472200	Strong transcription	Ovary	ovary
44	chr1:120456400-120472400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:120456400-120472600	Strong transcription	Primary T cells from cord blood	blood
46	chr1:120456400-120472800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:120456600-120471800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:120456600-120472000	Strong transcription	Fetal Stomach	stomach
49	chr1:120456600-120472000	Strong transcription	Left Ventricle	heart
50	chr1:120456600-120472000	Strong transcription	Rectal Mucosa Donor 31	rectum

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