Variant report

Variant	rs55750919
Chromosome Location	chr5:14327313-14327314
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14326133..14328389-chr5:14331422..14333963,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10062034	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076925	1.00[AMR][1000 genomes]
rs16903350	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16903376	0.89[AFR][1000 genomes]
rs16903399	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903467	1.00[AMR][1000 genomes]
rs55754427	1.00[AMR][1000 genomes]
rs55773296	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56114434	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56141029	1.00[AMR][1000 genomes]
rs56227025	1.00[AMR][1000 genomes]
rs56664186	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56712870	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57560019	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57764801	0.87[AFR][1000 genomes]
rs57974400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324829	1.00[AMR][1000 genomes]
rs58443103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58716074	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58897996	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59499572	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59853866	1.00[AMR][1000 genomes]
rs60077210	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60568524	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61180647	0.83[AMR][1000 genomes]
rs61396062	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61509800	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6868596	0.83[AMR][1000 genomes]
rs73748806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748810	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73748811	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749082	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749083	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749085	1.00[AMR][1000 genomes]
rs73749234	1.00[AMR][1000 genomes]
rs73749235	1.00[AMR][1000 genomes]
rs73751307	0.83[AMR][1000 genomes]
rs73751311	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751318	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751322	1.00[AMR][1000 genomes]
rs73751323	1.00[AMR][1000 genomes]
rs73751327	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751329	1.00[AMR][1000 genomes]
rs73751335	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751336	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751337	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751338	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751339	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751340	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7703674	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7705426	0.83[AMR][1000 genomes]
rs7713114	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7716460	1.00[AMR][1000 genomes]
rs7723309	1.00[AMR][1000 genomes]
rs7724084	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
3	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
6	chr5:14314600-14338200	Strong transcription	HSMM	muscle
7	chr5:14314800-14342200	Strong transcription	Osteobl	bone
8	chr5:14316200-14332600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:14317200-14330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:14317800-14328000	Weak transcription	Brain Substantia Nigra	brain
11	chr5:14317800-14328200	Weak transcription	Fetal Lung	lung
12	chr5:14317800-14330800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:14318000-14329200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:14318000-14333000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:14318000-14333000	Weak transcription	Thymus	Thymus
16	chr5:14318000-14336600	Weak transcription	Fetal Thymus	thymus
17	chr5:14319200-14328200	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:14319400-14333800	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:14319800-14330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:14321400-14328000	Weak transcription	HMEC	breast
22	chr5:14321600-14328000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:14321600-14334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:14321600-14336400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:14321600-14336600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:14321600-14340200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:14321800-14330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:14321800-14331000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:14321800-14332400	Weak transcription	Pancreas	Pancrea
30	chr5:14321800-14333000	Weak transcription	Lung	lung
31	chr5:14321800-14336000	Weak transcription	Colonic Mucosa	Colon
32	chr5:14321800-14336600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:14322000-14329400	Strong transcription	GM12878-XiMat	blood
34	chr5:14322200-14328600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:14322200-14334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:14322400-14330600	Weak transcription	Primary T cells from cord blood	blood
37	chr5:14322600-14329800	Strong transcription	NHDF-Ad	bronchial
38	chr5:14322800-14330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:14323000-14336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:14323200-14328800	Weak transcription	Placenta	Placenta
41	chr5:14323200-14332800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:14323400-14328000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:14323400-14336600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:14323600-14328200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:14323600-14342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:14323800-14327800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:14323800-14328200	Weak transcription	Brain Anterior Caudate	brain
48	chr5:14323800-14333200	Weak transcription	Spleen	Spleen
49	chr5:14323800-14339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:14324000-14328400	Weak transcription	Liver	Liver

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