Variant report

Variant	rs55790309
Chromosome Location	chr14:103953534-103953535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103953014..103954678-chr14:103956944..103959558,2	K562	blood:
2	chr14:103799642..103801569-chr14:103952422..103954369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11622473	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11622835	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627052	0.80[AMR][1000 genomes]
rs8017780	0.84[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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
4	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	esv1829466	chr14:103937582-103954794	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs55790309	CKB	cis	Skin Sun Exposed Lower leg	GTEx
rs55790309	CKB	Cis_1M	lymphoblastoid	RTeQTL
rs55790309	MARK3	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
7	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:103931600-103955000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:103932000-103953800	Strong transcription	Fetal Muscle Leg	muscle
10	chr14:103939200-103966200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:103939400-103956000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:103940200-103954800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:103941600-103953800	Weak transcription	Small Intestine	intestine
14	chr14:103942800-103956000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:103942800-103957200	Weak transcription	Brain Angular Gyrus	brain
16	chr14:103942800-103966400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:103943200-103969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:103943400-103953800	Weak transcription	Right Ventricle	heart
19	chr14:103943400-103954800	Weak transcription	Fetal Heart	heart
20	chr14:103943400-103958200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:103943600-103953800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:103944200-103955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:103944400-103957400	Weak transcription	Colonic Mucosa	Colon
24	chr14:103944400-103962200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:103945400-103962800	Strong transcription	Thymus	Thymus
26	chr14:103945600-103954200	Weak transcription	Fetal Brain Male	brain
27	chr14:103945600-103957400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:103946400-103964400	Strong transcription	Fetal Thymus	thymus
29	chr14:103946600-103953800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:103946800-103953800	Weak transcription	Lung	lung
31	chr14:103946800-103957200	Weak transcription	Pancreas	Pancrea
32	chr14:103946800-103963800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr14:103947200-103954600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:103947200-103963800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:103947400-103954400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:103947400-103954400	Weak transcription	Gastric	stomach
37	chr14:103947400-103954600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:103947400-103955800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:103947600-103953800	Weak transcription	HSMMtube	muscle
40	chr14:103947600-103955800	Weak transcription	Ovary	ovary
41	chr14:103947600-103957200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:103947600-103966600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:103947600-103967400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:103947600-103972800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:103947800-103953600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:103947800-103955800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:103947800-103966000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:103948000-103953800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:103948000-103953800	Weak transcription	Brain Anterior Caudate	brain

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