Variant report

Variant	rs10147109
Chromosome Location	chr14:35237648-35237649
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35237218..35239739-chr14:35251859..35254380,2	K562	blood:
2	chr14:35237464..35239910-chr14:35248990..35251298,2	K562	blood:
3	chr14:35235389..35237760-chr14:35341826..35344219,2	MCF-7	breast:
4	chr14:35232989..35235688-chr14:35236337..35238801,2	K562	blood:

Variant related genes	Relation type
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10129577	0.81[ASN][1000 genomes]
rs10133537	0.81[ASN][1000 genomes]
rs1200415	0.81[ASN][1000 genomes]
rs17102745	0.86[ASN][1000 genomes]
rs2275147	0.90[ASN][1000 genomes]
rs28690092	1.00[ASN][1000 genomes]
rs28804104	1.00[ASN][1000 genomes]
rs55909288	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280418	0.81[ASN][1000 genomes]
rs60293526	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60358922	1.00[ASN][1000 genomes]
rs66496703	0.81[ASN][1000 genomes]
rs66935528	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67791098	1.00[ASN][1000 genomes]
rs7148739	0.81[ASN][1000 genomes]
rs8014552	0.95[ASN][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

No data

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	chr14:35221600-35237800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:35221600-35255400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:35221600-35258800	Strong transcription	Dnd41	blood
11	chr14:35221600-35274600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:35224000-35240400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:35226000-35273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:35226000-35274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:35226200-35252600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:35226400-35267000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:35227600-35255600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:35227600-35267000	Weak transcription	Stomach Mucosa	stomach
19	chr14:35228000-35264600	Weak transcription	Brain Substantia Nigra	brain
20	chr14:35230000-35267000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:35230600-35241800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:35230600-35242000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:35230600-35250000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:35231200-35291800	Weak transcription	Fetal Brain Male	brain
25	chr14:35232000-35241800	Weak transcription	Esophagus	oesophagus
26	chr14:35232000-35269800	Weak transcription	Fetal Heart	heart
27	chr14:35232600-35267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
29	chr14:35233000-35251400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr14:35233800-35241800	Weak transcription	Fetal Intestine Small	intestine
31	chr14:35234000-35248000	Weak transcription	Colonic Mucosa	Colon
32	chr14:35234000-35252800	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:35234200-35240200	Weak transcription	Placenta	Placenta
34	chr14:35234200-35240200	Weak transcription	Fetal Stomach	stomach
35	chr14:35234200-35241400	Weak transcription	Ovary	ovary
36	chr14:35234200-35244600	Weak transcription	Right Ventricle	heart
37	chr14:35234200-35244600	Weak transcription	NHLF	lung
38	chr14:35234200-35267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:35234200-35267000	Weak transcription	Pancreas	Pancrea
40	chr14:35234200-35271400	Weak transcription	Brain Angular Gyrus	brain
41	chr14:35234200-35271400	Weak transcription	Brain Anterior Caudate	brain
42	chr14:35234200-35274200	Weak transcription	Aorta	Aorta
43	chr14:35234200-35276000	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:35234400-35239600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr14:35234400-35239800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:35234400-35239800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:35234400-35239800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:35234400-35240000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:35234400-35240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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