Variant report

Variant	rs73354395
Chromosome Location	chr14:105358629-105358630
allele	C/T
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	STAT5A	chr14:105357381-105358687	K562	blood:	n/a	chr14:105357662-105357674
2	POLR2A	chr14:105358177-105358718	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr14:105357747-105358674	K562	blood:	n/a	n/a
4	POLR2A	chr14:105357319-105358800	K562	blood:	n/a	n/a
5	POLR2A	chr14:105357493-105360907	K562	blood:	n/a	n/a
6	HMGN3	chr14:105358476-105358669	K562	blood:	n/a	n/a
7	CCNT2	chr14:105358499-105358699	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105337782..105339687-chr14:105357084..105359181,2	MCF-7	breast:
2	chr14:105340925..105344300-chr14:105357578..105360032,4	MCF-7	breast:
3	chr14:105358507..105360165-chr14:105487372..105489405,2	K562	blood:

Variant related genes	Relation type
CEP170B	TF binding region
ENSG00000170779	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57576904	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61323993	0.81[AMR][1000 genomes]
rs61731617	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73355743	0.97[EUR][1000 genomes]
rs73355745	0.97[EUR][1000 genomes]
rs73355749	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
8	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
10	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv902418	chr14:105323300-105361934	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv566137	chr14:105332322-105359556	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
17	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv566140	chr14:105347488-105359556	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105339600-105363000	Weak transcription	NH-A	brain
2	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:105347400-105362400	Weak transcription	HepG2	liver
4	chr14:105348000-105362600	Weak transcription	Brain Substantia Nigra	brain
5	chr14:105349400-105359600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:105350200-105361200	Weak transcription	Stomach Mucosa	stomach
7	chr14:105350600-105362000	Weak transcription	Small Intestine	intestine
8	chr14:105351000-105361800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:105352200-105363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:105352600-105365200	Weak transcription	Fetal Lung	lung
11	chr14:105353200-105363600	Weak transcription	Osteobl	bone
12	chr14:105353600-105360400	Weak transcription	HUVEC	blood vessel
13	chr14:105354000-105369800	Weak transcription	HSMMtube	muscle
14	chr14:105354200-105360400	Weak transcription	Left Ventricle	heart
15	chr14:105354400-105361600	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:105354400-105362600	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:105354400-105364600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:105354600-105359200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:105354600-105360000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:105354600-105360200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:105354600-105361600	Weak transcription	A549	lung
22	chr14:105354600-105362000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:105354600-105362200	Weak transcription	Brain Angular Gyrus	brain
24	chr14:105354600-105363600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:105354800-105359000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:105354800-105360200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:105354800-105362200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:105354800-105365400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:105355000-105359400	Weak transcription	NHLF	lung
30	chr14:105355200-105361000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:105355200-105365200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:105355400-105367000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:105355600-105359200	Weak transcription	Colonic Mucosa	Colon
34	chr14:105355600-105359600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:105355600-105360200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:105355600-105361800	Weak transcription	Adipose Nuclei	Adipose
37	chr14:105355600-105362800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:105355600-105363600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:105355800-105358800	Weak transcription	Brain Germinal Matrix	brain
40	chr14:105355800-105359400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:105355800-105360200	Weak transcription	Brain Anterior Caudate	brain
42	chr14:105355800-105360200	Weak transcription	NHEK	skin
43	chr14:105356000-105359200	Weak transcription	Esophagus	oesophagus
44	chr14:105356000-105359200	Weak transcription	Gastric	stomach
45	chr14:105356000-105359600	Weak transcription	Right Ventricle	heart
46	chr14:105356000-105360000	Weak transcription	Pancreas	Pancrea
47	chr14:105356000-105360200	Weak transcription	Fetal Intestine Large	intestine
48	chr14:105356000-105360600	Weak transcription	Liver	Liver
49	chr14:105356000-105361800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:105356000-105361800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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