Variant report

Variant	rs10149773
Chromosome Location	chr14:104065239-104065240
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	chr14:104064278..104066536-chr14:104074271..104076591,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1103184	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160757	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12891411	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1998775	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2403198	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403199	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742359	0.84[ASN][1000 genomes]
rs4243740	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4526964	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4900585	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906351	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906353	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906354	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906357	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs861532	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs861540	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs861542	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs861546	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs861549	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs861550	0.87[EUR][1000 genomes];0.84[ASN][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	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
2	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
3	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10149773	CKB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104030800-104073200	Weak transcription	Small Intestine	intestine
2	chr14:104045600-104067200	Weak transcription	Primary B cells from cord blood	blood
3	chr14:104055800-104067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:104055800-104073000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:104057000-104070800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:104057600-104073400	Weak transcription	Primary T cells from cord blood	blood
7	chr14:104057800-104073200	Weak transcription	Fetal Intestine Large	intestine
8	chr14:104057800-104073200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:104057800-104073400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:104057800-104073400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:104058000-104073400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:104060200-104090200	Weak transcription	Pancreas	Pancrea
13	chr14:104060400-104071200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:104060800-104073400	Weak transcription	Lung	lung
15	chr14:104061000-104069200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:104062000-104065600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:104062000-104073200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:104062000-104073400	Weak transcription	Ovary	ovary
19	chr14:104062200-104073200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:104062200-104073400	Weak transcription	Brain Germinal Matrix	brain
21	chr14:104062600-104072600	Weak transcription	Thymus	Thymus
22	chr14:104062800-104065400	Strong transcription	Fetal Stomach	stomach
23	chr14:104063200-104072800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:104064000-104067000	Weak transcription	HepG2	liver
25	chr14:104064600-104073000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:104064600-104073400	Weak transcription	Brain Angular Gyrus	brain
27	chr14:104064800-104073000	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:104064800-104073200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:104064800-104073200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:104064800-104073400	Weak transcription	NHEK	skin
31	chr14:104064800-104073600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:104065000-104072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:104065000-104073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:104065000-104073200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr14:104065000-104073400	Weak transcription	Fetal Brain Female	brain
36	chr14:104065200-104069800	Weak transcription	Fetal Intestine Small	intestine
37	chr14:104065200-104071000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:104065200-104071600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:104065200-104072000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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