Variant report

Variant	rs545119
Chromosome Location	chr15:44203045-44203046
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44203028..44205374-chr15:44210387..44212773,2	K562	blood:
2	chr15:44202676..44204581-chr15:44827219..44829622,2	K562	blood:
3	chr15:44194479..44197065-chr15:44202126..44203842,2	K562	blood:

Variant related genes	Relation type
ENSG00000104131	Chromatin interaction
ENSG00000171877	Chromatin interaction
ENSG00000179523	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11853395	0.97[EUR][1000 genomes]
rs1561458	0.97[EUR][1000 genomes]
rs16948098	0.87[EUR][1000 genomes]
rs16948586	0.94[ASN][1000 genomes]
rs16948660	0.97[ASN][1000 genomes]
rs16949992	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623015	0.82[EUR][1000 genomes]
rs28654093	0.97[EUR][1000 genomes]
rs28729677	0.86[EUR][1000 genomes]
rs2918952	0.97[EUR][1000 genomes]
rs2929275	0.86[EUR][1000 genomes]
rs2929277	0.86[EUR][1000 genomes]
rs2929279	0.94[EUR][1000 genomes]
rs2929282	0.82[EUR][1000 genomes]
rs2930523	0.94[EUR][1000 genomes]
rs2930524	0.94[EUR][1000 genomes]
rs2930525	0.86[EUR][1000 genomes]
rs34497759	0.82[EUR][1000 genomes]
rs4270152	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4321171	0.97[EUR][1000 genomes]
rs481837	0.91[EUR][1000 genomes]
rs483800	0.91[EUR][1000 genomes]
rs492571	0.97[EUR][1000 genomes]
rs56793082	0.91[EUR][1000 genomes]
rs57143137	0.97[ASN][1000 genomes]
rs59561000	0.94[EUR][1000 genomes]
rs59569210	0.94[ASN][1000 genomes]
rs7166823	0.94[ASN][1000 genomes]
rs7179287	0.94[ASN][1000 genomes]
rs74009159	0.97[EUR][1000 genomes]
rs74009160	0.97[EUR][1000 genomes]
rs8035382	0.82[EUR][1000 genomes]
rs8035402	0.82[EUR][1000 genomes]
rs8035689	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription 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 miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
6	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44156800-44206400	Weak transcription	Fetal Brain Male	brain
2	chr15:44173600-44208000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:44173800-44211600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:44174200-44211600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:44187000-44203600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:44191200-44207400	Weak transcription	Ovary	ovary
7	chr15:44192200-44203600	Weak transcription	Left Ventricle	heart
8	chr15:44192400-44203200	Weak transcription	Right Atrium	heart
9	chr15:44194400-44204000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:44194600-44203200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:44194600-44208200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:44196400-44203600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr15:44196400-44203800	Weak transcription	Fetal Heart	heart
14	chr15:44196400-44204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:44196400-44205200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:44196400-44207600	Weak transcription	Gastric	stomach
17	chr15:44196400-44208000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:44196400-44212200	Weak transcription	Fetal Stomach	stomach
19	chr15:44196400-44216800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:44196600-44204600	Weak transcription	Hela-S3	cervix
21	chr15:44196600-44205400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr15:44196600-44208200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:44196800-44203600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:44198000-44205200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:44198000-44211600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:44198200-44203400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:44198200-44217600	Weak transcription	Brain Germinal Matrix	brain
28	chr15:44198400-44208000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:44198600-44203200	Weak transcription	NHEK	skin
30	chr15:44198600-44203400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:44198600-44205400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:44198800-44203200	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:44198800-44203400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:44198800-44207600	Weak transcription	Fetal Brain Female	brain
35	chr15:44200000-44208000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:44201200-44208000	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:44201400-44205400	Weak transcription	Adipose Nuclei	Adipose
38	chr15:44201400-44209000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:44201800-44208400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:44202000-44206800	Enhancers	NHDF-Ad	bronchial
41	chr15:44202200-44203200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:44202400-44204000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:44202400-44204600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:44202400-44206200	Enhancers	Brain Angular Gyrus	brain
45	chr15:44202400-44206400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:44202400-44206400	Enhancers	NHLF	lung
47	chr15:44202400-44206800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:44202600-44204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:44202800-44205200	Enhancers	HUVEC	blood vessel
50	chr15:44203000-44203200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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