Variant report

Variant	rs152971
Chromosome Location	chr5:14669449-14669450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:
2	chr5:14664510..14666859-chr5:14666995..14670129,4	MCF-7	breast:
3	chr5:14668622..14671046-chr5:14674810..14676511,2	K562	blood:
4	chr5:14667600..14670326-chr5:14676712..14678274,2	K562	blood:

Variant related genes	Relation type
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13159680	1.00[ASN][1000 genomes]
rs149125	0.84[ASN][1000 genomes]
rs149497	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152719	1.00[ASN][1000 genomes]
rs152970	1.00[ASN][1000 genomes]
rs152972	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152973	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153831	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153832	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153833	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153835	1.00[ASN][1000 genomes]
rs153836	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs153837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153934	1.00[ASN][1000 genomes]
rs154667	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17249895	0.94[ASN][1000 genomes]
rs2455240	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250878	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25941	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs25942	1.00[ASN][1000 genomes]
rs25943	1.00[ASN][1000 genomes]
rs28107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31993	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31994	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31995	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34087737	0.88[ASN][1000 genomes]
rs34617159	1.00[ASN][1000 genomes]
rs39609	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs430035	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs455943	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs456977	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs457377	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458863	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs461015	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs461056	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs461154	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs620434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	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
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14665600-14676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:14666200-14672200	Weak transcription	Aorta	Aorta
3	chr5:14666400-14669800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:14666400-14671200	Weak transcription	Brain Angular Gyrus	brain
5	chr5:14666400-14672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:14666400-14673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:14666400-14673200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:14666400-14674200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr5:14666400-14675600	Weak transcription	Placenta	Placenta
10	chr5:14666400-14678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:14666400-14688200	Weak transcription	Ovary	ovary
13	chr5:14666600-14669600	Weak transcription	NH-A	brain
14	chr5:14666600-14671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:14666600-14672000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:14666600-14672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
18	chr5:14666800-14670000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:14666800-14671200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:14666800-14671400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:14666800-14671600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:14666800-14671600	Weak transcription	NHDF-Ad	bronchial
23	chr5:14666800-14672000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:14666800-14672000	Weak transcription	HSMM	muscle
25	chr5:14666800-14672200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:14666800-14675600	Weak transcription	NHLF	lung
27	chr5:14666800-14675800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:14667000-14670000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:14667000-14670600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:14667000-14671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:14667000-14671200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:14667000-14671200	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:14667000-14671600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:14667000-14672200	Weak transcription	Brain Substantia Nigra	brain
35	chr5:14667000-14672400	Weak transcription	Brain Anterior Caudate	brain
36	chr5:14667000-14672400	Weak transcription	HSMMtube	muscle
37	chr5:14667000-14675600	Weak transcription	Thymus	Thymus
38	chr5:14667000-14676600	Weak transcription	Fetal Kidney	kidney
39	chr5:14667000-14680000	Weak transcription	Fetal Brain Female	brain
40	chr5:14667000-14681200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
42	chr5:14667200-14670600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr5:14667200-14672000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:14667200-14672600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:14667400-14669800	Enhancers	Left Ventricle	heart
46	chr5:14667400-14671000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:14667400-14671000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:14667400-14671000	Weak transcription	HUVEC	blood vessel
49	chr5:14667400-14676600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:14668200-14672200	Weak transcription	Gastric	stomach

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