Variant report

Variant	rs12517582
Chromosome Location	chr5:112934886-112934887
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112672794..112674511-chr5:112933592..112935108,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11747924	1.00[CHB][hapmap]
rs11748145	0.89[AMR][1000 genomes]
rs11748794	0.82[CHB][hapmap]
rs12519315	0.95[CEU][hapmap]
rs12519323	0.85[CHB][hapmap]
rs12523145	0.81[CEU][hapmap]
rs17135753	0.82[CHB][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17135754	0.85[CHB][hapmap];0.88[AMR][1000 genomes]
rs1833678	0.82[CHB][hapmap]
rs2042222	0.85[CHB][hapmap]
rs4705558	0.85[CHB][hapmap]
rs4705826	0.85[CHB][hapmap]
rs6594735	0.92[CEU][hapmap]
rs6594737	0.83[AMR][1000 genomes]
rs6859688	0.90[AMR][1000 genomes]
rs6864369	0.82[CHB][hapmap]
rs6886199	0.84[CEU][hapmap]
rs72805465	0.82[AMR][1000 genomes]
rs7729433	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
3	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
5	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
6	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
7	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
8	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
9	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:112916800-112936000	Weak transcription	Fetal Heart	heart
12	chr5:112917200-112942000	Weak transcription	K562	blood
13	chr5:112917400-112937600	Weak transcription	HSMMtube	muscle
14	chr5:112918000-112939000	Weak transcription	NHEK	skin
15	chr5:112920400-112939000	Weak transcription	HMEC	breast
16	chr5:112920600-112936000	Weak transcription	Brain Anterior Caudate	brain
17	chr5:112920800-112938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:112920800-112942000	Weak transcription	Ovary	ovary
19	chr5:112927000-112936600	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:112927200-112941800	Weak transcription	HUVEC	blood vessel
21	chr5:112927800-112939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:112928200-112936600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:112928800-112937800	Weak transcription	Osteobl	bone
24	chr5:112929200-112935000	Weak transcription	Fetal Intestine Large	intestine
25	chr5:112929200-112935400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:112929200-112941400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:112929800-112936000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:112929800-112942000	Weak transcription	NH-A	brain
29	chr5:112929800-112943800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:112930000-112937600	Weak transcription	Primary B cells from cord blood	blood
31	chr5:112930000-112941800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:112930000-112941800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:112930000-112942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:112930000-112942200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:112930000-112943800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:112930000-112944000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:112930200-112942000	Weak transcription	Left Ventricle	heart
38	chr5:112930200-112944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:112930400-112935000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:112930400-112942000	Weak transcription	A549	lung
41	chr5:112930800-112937200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr5:112930800-112942200	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:112931400-112943600	Weak transcription	NHDF-Ad	bronchial
44	chr5:112931800-112936600	Weak transcription	Liver	Liver
45	chr5:112931800-112941800	Weak transcription	Placenta	Placenta
46	chr5:112931800-112943600	Weak transcription	Dnd41	blood
47	chr5:112932000-112939800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:112932400-112937200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:112932600-112936200	Weak transcription	Fetal Lung	lung
50	chr5:112932600-112942200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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