Variant report

Variant	rs247144
Chromosome Location	chr5:14326476-14326477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14093232..14095534-chr5:14324586..14326796,2	MCF-7	breast:
2	chr5:13976792..13977423-chr5:14326285..14326990,2	MCF-7	breast:
3	chr5:14108397..14109216-chr5:14326148..14327105,2	MCF-7	breast:
4	chr5:14326133..14328389-chr5:14331422..14333963,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs154150	0.84[CEU][hapmap]
rs154152	0.84[EUR][1000 genomes]
rs154153	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs154154	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs154155	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs154161	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs165083	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1664507	0.88[EUR][1000 genomes]
rs16903338	0.84[CEU][hapmap]
rs187432	0.80[ASN][1000 genomes]
rs247134	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247139	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs247140	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs247141	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs247142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247143	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247145	0.81[ASN][1000 genomes]
rs256417	0.88[EUR][1000 genomes]
rs256423	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs30618	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs30622	0.90[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs30623	0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs30624	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs30634	0.90[ASN][1000 genomes]
rs30769	0.84[EUR][1000 genomes]
rs30770	0.84[EUR][1000 genomes]
rs30771	0.84[EUR][1000 genomes]
rs30782	0.88[EUR][1000 genomes]
rs30783	0.95[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs30784	0.95[CEU][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes]
rs30792	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs39857	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40275	0.95[ASN][1000 genomes]
rs409214	0.88[EUR][1000 genomes]
rs40971	0.81[ASN][1000 genomes]
rs415341	0.83[EUR][1000 genomes]
rs42203	0.82[ASN][1000 genomes]
rs42204	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs42259	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs42405	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs42407	0.92[EUR][1000 genomes]
rs42551	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7380307	1.00[YRI][hapmap]

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:112 , 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	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:14309600-14326600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
5	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:14314000-14326800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
9	chr5:14314600-14326800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr5:14314600-14338200	Strong transcription	HSMM	muscle
11	chr5:14314800-14326600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:14314800-14342200	Strong transcription	Osteobl	bone
13	chr5:14316200-14332600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:14316400-14326600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr5:14317200-14326800	Strong transcription	NHLF	lung
16	chr5:14317200-14330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:14317800-14328000	Weak transcription	Brain Substantia Nigra	brain
18	chr5:14317800-14328200	Weak transcription	Fetal Lung	lung
19	chr5:14317800-14330800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:14318000-14329200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:14318000-14333000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:14318000-14333000	Weak transcription	Thymus	Thymus
23	chr5:14318000-14336600	Weak transcription	Fetal Thymus	thymus
24	chr5:14319200-14328200	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:14319400-14333800	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:14319800-14330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:14321400-14328000	Weak transcription	HMEC	breast
29	chr5:14321600-14328000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:14321600-14334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:14321600-14336400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:14321600-14336600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:14321600-14340200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:14321800-14330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:14321800-14331000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:14321800-14332400	Weak transcription	Pancreas	Pancrea
37	chr5:14321800-14333000	Weak transcription	Lung	lung
38	chr5:14321800-14336000	Weak transcription	Colonic Mucosa	Colon
39	chr5:14321800-14336600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:14322000-14329400	Strong transcription	GM12878-XiMat	blood
41	chr5:14322200-14328600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:14322200-14334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:14322400-14330600	Weak transcription	Primary T cells from cord blood	blood
44	chr5:14322600-14326800	Strong transcription	A549	lung
45	chr5:14322600-14329800	Strong transcription	NHDF-Ad	bronchial
46	chr5:14322800-14330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:14323000-14336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:14323200-14328800	Weak transcription	Placenta	Placenta
49	chr5:14323200-14332800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:14323400-14328000	Weak transcription	Duodenum Mucosa	Duodenum

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