Variant report

Variant	rs1959152
Chromosome Location	chr14:35237117-35237118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35235389..35237760-chr14:35341826..35344219,2	MCF-7	breast:
2	chr14:35232989..35235688-chr14:35236337..35238801,2	K562	blood:

Variant related genes	Relation type
ENSG00000198604	Chromatin interaction
ENSG00000258738	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1013807	0.87[CEU][hapmap]
rs10141974	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs10147894	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872891	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11156863	0.84[CEU][hapmap]
rs11156865	0.84[CEU][hapmap]
rs11628471	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11629136	1.00[JPT][hapmap]
rs11844788	0.83[CEU][hapmap]
rs1200394	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1200400	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1200401	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1200402	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1200412	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1210975	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12587814	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs1474940	0.84[CEU][hapmap]
rs1953430	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs1959150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959151	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959155	0.81[EUR][1000 genomes]
rs1959156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1959157	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1959158	0.81[EUR][1000 genomes]
rs1959159	0.81[EUR][1000 genomes]
rs1973944	0.84[CEU][hapmap]
rs2145028	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2184621	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2275146	0.81[EUR][1000 genomes]
rs2275148	0.84[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs2383678	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs2891295	0.84[CEU][hapmap]
rs3783317	0.81[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs4387519	0.83[CEU][hapmap]
rs4982214	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs4982226	0.84[CEU][hapmap]
rs56742442	0.81[EUR][1000 genomes]
rs6571688	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142040	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs7144793	0.84[CEU][hapmap]
rs7145412	0.80[EUR][1000 genomes]
rs7146099	0.84[CEU][hapmap]
rs7149749	0.80[EUR][1000 genomes]
rs7157311	0.80[EUR][1000 genomes]
rs7342504	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs7342544	0.84[CEU][hapmap]
rs9743779	0.88[EUR][1000 genomes]

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	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1040350	chr14:35196524-35245409	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv523492	chr14:35229680-35242828	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1959152	NUBPL	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35219400-35262000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr14:35219400-35267000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:35219600-35254600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:35221000-35253200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr14:35221000-35255800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:35221200-35262000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:35221400-35280800	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr14:35221600-35237400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:35221600-35237800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:35221600-35255400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:35221600-35258800	Strong transcription	Dnd41	blood
12	chr14:35221600-35274600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:35222600-35237200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:35224000-35240400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:35225600-35237200	Strong transcription	Fetal Thymus	thymus
16	chr14:35226000-35273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:35226000-35274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:35226200-35252600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:35226400-35267000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:35227200-35237200	Strong transcription	A549	lung
21	chr14:35227600-35255600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:35227600-35267000	Weak transcription	Stomach Mucosa	stomach
23	chr14:35227800-35237200	Strong transcription	Primary B cells from cord blood	blood
24	chr14:35228000-35264600	Weak transcription	Brain Substantia Nigra	brain
25	chr14:35230000-35267000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:35230600-35241800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:35230600-35242000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:35230600-35250000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:35231200-35291800	Weak transcription	Fetal Brain Male	brain
30	chr14:35232000-35241800	Weak transcription	Esophagus	oesophagus
31	chr14:35232000-35269800	Weak transcription	Fetal Heart	heart
32	chr14:35232600-35267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
34	chr14:35233000-35251400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:35233800-35241800	Weak transcription	Fetal Intestine Small	intestine
36	chr14:35234000-35248000	Weak transcription	Colonic Mucosa	Colon
37	chr14:35234000-35252800	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:35234200-35240200	Weak transcription	Placenta	Placenta
39	chr14:35234200-35240200	Weak transcription	Fetal Stomach	stomach
40	chr14:35234200-35241400	Weak transcription	Ovary	ovary
41	chr14:35234200-35244600	Weak transcription	Right Ventricle	heart
42	chr14:35234200-35244600	Weak transcription	NHLF	lung
43	chr14:35234200-35267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:35234200-35267000	Weak transcription	Pancreas	Pancrea
45	chr14:35234200-35271400	Weak transcription	Brain Angular Gyrus	brain
46	chr14:35234200-35271400	Weak transcription	Brain Anterior Caudate	brain
47	chr14:35234200-35274200	Weak transcription	Aorta	Aorta
48	chr14:35234200-35276000	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:35234400-35239600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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