Variant report

Variant	rs149123
Chromosome Location	chr5:14222340-14222341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14090951..14093130-chr5:14221459..14223620,2	MCF-7	breast:
2	chr5:14220578..14224492-chr5:14225553..14229108,5	MCF-7	breast:
3	chr5:14218014..14220716-chr5:14221301..14224995,3	MCF-7	breast:
4	chr5:14220084..14222429-chr5:14232339..14235006,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11133784	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs11743665	0.82[CHD][hapmap]
rs12522960	0.80[ASN][1000 genomes]
rs151899	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151924	0.90[ASN][1000 genomes]
rs164629	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs164862	0.82[JPT][hapmap]
rs165094	0.83[MEX][hapmap]
rs165095	0.82[MEX][hapmap]
rs16903264	0.90[JPT][hapmap]
rs171592	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2440982	0.83[MEX][hapmap]
rs245445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs248899	0.96[ASN][1000 genomes]
rs26114	0.89[ASN][1000 genomes]
rs26136	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26137	0.89[ASN][1000 genomes]
rs26280	0.91[CHB][hapmap]
rs26281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs26289	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27463	0.88[ASN][1000 genomes]
rs28014	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs28030	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs32340	0.95[JPT][hapmap]
rs32392	0.97[ASN][1000 genomes]
rs32548	0.88[ASN][1000 genomes]
rs32549	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs32571	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs33004	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33007	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33027	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs352112	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs354286	0.93[CHD][hapmap]
rs39617	0.88[ASN][1000 genomes]
rs43181	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4701604	0.82[ASN][1000 genomes]
rs506330	0.85[ASN][1000 genomes]
rs544588	0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs556928	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs72744212	0.82[ASN][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	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14213000-14223600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:14215000-14222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:14215200-14222800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:14215600-14223400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr5:14216000-14223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:14216000-14225800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:14216400-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:14216800-14227200	Weak transcription	Hela-S3	cervix
9	chr5:14217000-14234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:14217400-14223000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:14218400-14230000	Weak transcription	NHEK	skin
12	chr5:14219000-14223000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:14219200-14223600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:14219200-14223800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:14219200-14223800	Enhancers	Thymus	Thymus
16	chr5:14219200-14225400	Weak transcription	Esophagus	oesophagus
17	chr5:14219200-14228800	Enhancers	Fetal Thymus	thymus
18	chr5:14219600-14223800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr5:14219600-14225000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:14219800-14222800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:14219800-14222800	Weak transcription	Lung	lung
22	chr5:14219800-14222800	Weak transcription	Right Ventricle	heart
23	chr5:14219800-14222800	Weak transcription	Spleen	Spleen
24	chr5:14219800-14223200	Weak transcription	Placenta	Placenta
25	chr5:14219800-14223200	Weak transcription	Pancreas	Pancrea
26	chr5:14219800-14223400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:14219800-14223400	Weak transcription	Ovary	ovary
28	chr5:14219800-14223600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:14219800-14225400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:14219800-14226000	Weak transcription	Aorta	Aorta
31	chr5:14219800-14226800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:14219800-14227200	Weak transcription	Gastric	stomach
33	chr5:14219800-14229400	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:14219800-14231000	Weak transcription	HMEC	breast
35	chr5:14219800-14231200	Weak transcription	Fetal Stomach	stomach
36	chr5:14220000-14222400	Weak transcription	Osteobl	bone
37	chr5:14220000-14223000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:14220000-14223400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:14220000-14225200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:14220000-14229400	Weak transcription	Brain Angular Gyrus	brain
41	chr5:14220000-14230000	Weak transcription	Fetal Brain Female	brain
42	chr5:14220200-14223400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:14220400-14223400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:14220400-14223800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:14220400-14229400	Weak transcription	Brain Germinal Matrix	brain
46	chr5:14220600-14222400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr5:14220600-14222400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:14220600-14222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:14220600-14223600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:14220800-14222600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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