Variant report

Variant	rs11158822
Chromosome Location	chr14:70355269-70355270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:70355180-70355330	HMEC	breast:	n/a	chr14:70355223-70355241
2	JUN	chr14:70354463-70355292	HepG2	liver:	n/a	chr14:70354925-70354934 chr14:70354924-70354935
3	ZNF263	chr14:70354641-70355653	HEK293-T-REx	kidney:	n/a	n/a
4	CTCF	chr14:70355160-70355310	Caco-2	colon:	n/a	chr14:70355223-70355241
5	FOS	chr14:70354392-70355289	MCF10A-Er-Src	breast:	n/a	chr14:70354925-70354934 chr14:70354924-70354935
6	SMC3	chr14:70354435-70355318	HepG2	liver:	n/a	chr14:70355225-70355233 chr14:70355225-70355239
7	HNF4G	chr14:70354458-70355392	HepG2	liver:	n/a	chr14:70354827-70354841 chr14:70354827-70354841 chr14:70354827-70354840 chr14:70355071-70355085
8	CTCF	chr14:70355120-70355270	HA-sp	spinal cord:	n/a	chr14:70355223-70355241
9	CTCF	chr14:70355160-70355310	HMF	breast:	n/a	chr14:70355223-70355241
10	CTCF	chr14:70355200-70355350	HCPEpiC	choroid plexus:	n/a	chr14:70355223-70355241
11	CTCF	chr14:70355140-70355290	HBMEC	blood vessel:	n/a	chr14:70355223-70355241
12	CTCF	chr14:70355140-70355290	MCF-7	breast:	n/a	chr14:70355223-70355241
13	TEAD4	chr14:70354401-70355300	HepG2	liver:	n/a	n/a
14	RCOR1	chr14:70353476-70355510	IMR90	lung:	n/a	n/a
15	MBD4	chr14:70354389-70355344	HepG2	liver:	n/a	n/a
16	JUND	chr14:70354422-70355364	HepG2	liver:	n/a	chr14:70354957-70354968 chr14:70354923-70354934 chr14:70354925-70354934 chr14:70354924-70354935
17	CTCF	chr14:70355140-70355290	HEEpiC	esophagus:	n/a	chr14:70355223-70355241
18	MYC	chr14:70354839-70355271	MCF10A-Er-Src	breast:	n/a	chr14:70354924-70354933
19	CTCF	chr14:70355190-70355293	MCF-7	breast:	n/a	chr14:70355223-70355241
20	CTCF	chr14:70355140-70355290	HCPEpiC	choroid plexus:	n/a	chr14:70355223-70355241
21	CTCF	chr14:70355120-70355270	HepG2	liver:	n/a	chr14:70355223-70355241
22	RAD21	chr14:70354612-70355413	HepG2	liver:	n/a	chr14:70355224-70355243
23	MAZ	chr14:70355263-70355445	HepG2	liver:	n/a	n/a
24	EP300	chr14:70354420-70355368	HepG2	liver:	n/a	n/a
25	CTCF	chr14:70355160-70355310	HAc	cerebellar:	n/a	chr14:70355223-70355241
26	FOS	chr14:70354336-70355271	MCF10A-Er-Src	breast:	n/a	chr14:70354925-70354934 chr14:70354924-70354935
27	CTCF	chr14:70355120-70355270	HPF	lung:	n/a	chr14:70355223-70355241
28	ARID3A	chr14:70354456-70355312	HepG2	liver:	n/a	n/a
29	CTCF	chr14:70355140-70355290	HMF	breast:	n/a	chr14:70355223-70355241
30	CTCF	chr14:70355165-70355299	HepG2	liver:	n/a	chr14:70355223-70355241
31	RAD21	chr14:70354445-70355279	HepG2	liver:	n/a	chr14:70354577-70354591 chr14:70354474-70354486 chr14:70355224-70355243

Variant related genes	Relation type
RPL7AP6	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10138095	0.85[CHB][hapmap]
rs11621436	0.85[CEU][hapmap];0.94[CHB][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56086423	0.81[ASN][1000 genomes]
rs56101942	0.94[ASN][1000 genomes]
rs943274	0.81[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3335532	chr14:70351055-70356429	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	esv3530187	chr14:70351090-70356419	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
6	esv3530188	chr14:70351121-70356378	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
7	esv3530189	chr14:70351121-70356378	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70349600-70356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:70350200-70361600	Weak transcription	Brain Germinal Matrix	brain
3	chr14:70352600-70355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:70353000-70356400	Enhancers	Liver	Liver
5	chr14:70353200-70355400	Enhancers	NHEK	skin
6	chr14:70353200-70355800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:70353200-70356200	Enhancers	HMEC	breast
8	chr14:70353400-70355400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:70353400-70356000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:70353400-70356000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr14:70353600-70355800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:70354400-70355400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70354400-70356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:70354600-70355400	Genic enhancers	Hela-S3	cervix
15	chr14:70354800-70355400	Enhancers	Osteobl	bone
16	chr14:70354800-70356000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:70355000-70355400	Weak transcription	Fetal Brain Female	brain
18	chr14:70355000-70355400	Enhancers	Fetal Intestine Large	intestine
19	chr14:70355000-70356000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:70355000-70356800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:70355200-70355600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:70355200-70355600	Enhancers	Fetal Brain Male	brain
23	chr14:70355200-70356400	Enhancers	HepG2	liver

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