Variant report

Variant	rs57076790
Chromosome Location	chr5:112208571-112208572
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	chr5:112206451..112208757-chr5:112210968..112212741,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11951746	1.00[AMR][1000 genomes]
rs17134881	1.00[AMR][1000 genomes]
rs17134929	1.00[AMR][1000 genomes]
rs17135094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55838903	1.00[AMR][1000 genomes]
rs56004167	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56044723	1.00[AMR][1000 genomes]
rs58659317	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58929329	1.00[AMR][1000 genomes]
rs60959200	1.00[AMR][1000 genomes]
rs61667491	1.00[AMR][1000 genomes]
rs6866838	1.00[AMR][1000 genomes]
rs6875646	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216208	1.00[AMR][1000 genomes]
rs73216212	1.00[AMR][1000 genomes]
rs73216228	1.00[AMR][1000 genomes]
rs73216233	1.00[AMR][1000 genomes]
rs73216237	1.00[AMR][1000 genomes]
rs73216295	1.00[AMR][1000 genomes]
rs73216300	1.00[AMR][1000 genomes]
rs73218128	1.00[AMR][1000 genomes]
rs73218131	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218137	1.00[AMR][1000 genomes]
rs73218139	1.00[AMR][1000 genomes]
rs73218152	1.00[AMR][1000 genomes]
rs73220040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73220042	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73220045	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73220047	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73221991	0.86[AFR][1000 genomes]
rs73791483	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1029595	chr5:112197662-112242375	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv4960	chr5:112200199-112218299	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112197800-112211800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:112198400-112211200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:112198400-112220600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:112198600-112208800	Strong transcription	Fetal Thymus	thymus
5	chr5:112198800-112208800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:112199000-112226000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:112199200-112210200	Weak transcription	Psoas Muscle	Psoas
8	chr5:112199200-112213200	Weak transcription	Fetal Heart	heart
9	chr5:112199200-112213400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:112199400-112215000	Weak transcription	Small Intestine	intestine
11	chr5:112199600-112214400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:112199800-112212200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:112200000-112209000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:112200600-112213800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:112201000-112209400	Strong transcription	Osteobl	bone
17	chr5:112202800-112217800	Weak transcription	Brain Substantia Nigra	brain
18	chr5:112203400-112213000	Weak transcription	Fetal Lung	lung
19	chr5:112203400-112218200	Weak transcription	Colonic Mucosa	Colon
20	chr5:112203600-112214400	Weak transcription	Stomach Mucosa	stomach
21	chr5:112203800-112211000	Weak transcription	HepG2	liver
22	chr5:112204000-112212000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:112204000-112213800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:112205000-112214600	Weak transcription	Fetal Kidney	kidney
25	chr5:112205200-112212800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:112205400-112213600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:112205600-112212800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:112206200-112209400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:112206200-112218400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:112206400-112208800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:112206400-112209400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:112206400-112210600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:112206400-112211600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:112206400-112212200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:112206400-112213800	Weak transcription	HUVEC	blood vessel
36	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
37	chr5:112206600-112208600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:112206600-112209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:112206600-112209800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:112206600-112209800	Weak transcription	HSMM	muscle
41	chr5:112206600-112209800	Weak transcription	NH-A	brain
42	chr5:112206600-112210000	Weak transcription	Primary B cells from cord blood	blood
43	chr5:112206600-112210600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:112206600-112211200	Weak transcription	K562	blood
45	chr5:112206600-112211800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:112206600-112213000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:112206600-112213200	Weak transcription	Brain Germinal Matrix	brain
48	chr5:112206600-112213200	Weak transcription	Fetal Brain Female	brain
49	chr5:112206600-112213400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:112206600-112214000	Weak transcription	Primary hematopoietic stem cells	blood

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