Variant report

Variant	rs45610535
Chromosome Location	chr14:78140020-78140021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78137716..78140274-chr14:78142246..78143787,2	MCF-7	breast:
2	chr14:78138709..78140424-chr14:78170369..78172653,2	MCF-7	breast:
3	chr14:78139849..78142125-chr14:78173577..78176178,2	K562	blood:
4	chr14:78133661..78136302-chr14:78138970..78141654,2	K562	blood:
5	chr14:78124444..78126288-chr14:78139672..78142055,2	K562	blood:

Variant related genes	Relation type
ENSG00000119705	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1010073	0.89[AMR][1000 genomes]
rs10132900	0.95[ASN][1000 genomes]
rs10143701	0.95[ASN][1000 genomes]
rs10146621	0.95[ASN][1000 genomes]
rs17106507	0.89[AMR][1000 genomes]
rs17752308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17752882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17752950	0.95[ASN][1000 genomes]
rs17752974	0.89[AMR][1000 genomes]
rs17825422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17825983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3783967	1.00[AMR][1000 genomes]
rs724264	0.89[AMR][1000 genomes]
rs73313116	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3693172	chr14:78130479-78152921	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv9156	chr14:78138141-78140714	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs45610535	ADCK1	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78128000-78157800	Weak transcription	Fetal Brain Male	brain
3	chr14:78129800-78147600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:78130400-78140200	Weak transcription	HMEC	breast
5	chr14:78133800-78140400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:78134200-78148000	Weak transcription	NH-A	brain
7	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:78135200-78156200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:78136200-78148000	Weak transcription	HSMMtube	muscle
10	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:78137200-78141000	Weak transcription	Stomach Mucosa	stomach
12	chr14:78137400-78143200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:78137400-78146400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:78137800-78146600	Strong transcription	Placenta	Placenta
15	chr14:78137800-78148400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:78137800-78161200	Weak transcription	Fetal Heart	heart
17	chr14:78138000-78142000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr14:78138000-78142200	Strong transcription	Adipose Nuclei	Adipose
19	chr14:78138000-78142600	Strong transcription	Fetal Brain Female	brain
20	chr14:78138000-78142600	Strong transcription	Fetal Lung	lung
21	chr14:78138000-78145600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:78138000-78146400	Strong transcription	Primary B cells from cord blood	blood
23	chr14:78138000-78146600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:78138000-78146800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr14:78138000-78147200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:78138000-78148000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:78138200-78142200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:78138200-78142800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:78138200-78146600	Strong transcription	Primary T cells from cord blood	blood
31	chr14:78138200-78147600	Weak transcription	Psoas Muscle	Psoas
32	chr14:78138200-78148400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:78138200-78154400	Strong transcription	Dnd41	blood
34	chr14:78138600-78142200	Strong transcription	Brain Hippocampus Middle	brain
35	chr14:78138600-78142200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:78138600-78142200	Strong transcription	Fetal Thymus	thymus
37	chr14:78138600-78142800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:78138600-78142800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:78138600-78146600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr14:78138600-78146600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:78138800-78140400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:78138800-78141000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr14:78138800-78141400	Strong transcription	Colon Smooth Muscle	Colon
44	chr14:78138800-78142200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:78138800-78142600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:78138800-78142600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:78138800-78142600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:78138800-78142800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr14:78138800-78143000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:78138800-78145000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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