Variant report

Variant	rs74056472
Chromosome Location	chr14:67516774-67516775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11848862	0.84[AMR][1000 genomes]
rs11849518	0.89[ASN][1000 genomes]
rs12101156	0.81[AMR][1000 genomes]
rs12433457	0.84[AMR][1000 genomes]
rs61095004	0.81[AMR][1000 genomes]
rs61989636	0.81[AMR][1000 genomes]
rs61989638	0.84[AMR][1000 genomes]
rs61990914	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1834170	chr14:67103140-67527235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1838724	chr14:67232573-67527235	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv1841498	chr14:67434470-67634318	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv564960	chr14:67449344-67549803	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1038122	chr14:67487040-67528205	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67511600-67517000	Weak transcription	Dnd41	blood
2	chr14:67511600-67517200	Weak transcription	Ovary	ovary
3	chr14:67511600-67517400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:67511600-67517400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:67511600-67517400	Weak transcription	Adipose Nuclei	Adipose
6	chr14:67511600-67517400	Weak transcription	Aorta	Aorta
7	chr14:67511600-67517400	Weak transcription	Esophagus	oesophagus
8	chr14:67511600-67517400	Weak transcription	Fetal Stomach	stomach
9	chr14:67511600-67517400	Weak transcription	Left Ventricle	heart
10	chr14:67511600-67517400	Weak transcription	Pancreas	Pancrea
11	chr14:67511600-67517400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:67511600-67517600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:67511600-67517600	Weak transcription	Spleen	Spleen
14	chr14:67511600-67517800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:67511600-67517800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:67511600-67517800	Weak transcription	Thymus	Thymus
17	chr14:67511600-67518200	Weak transcription	Hela-S3	cervix
18	chr14:67511600-67518400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:67511600-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:67511600-67518400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:67511600-67518400	Weak transcription	Right Ventricle	heart
22	chr14:67511600-67519000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:67511600-67519200	Weak transcription	Brain Substantia Nigra	brain
24	chr14:67511600-67519200	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:67511600-67524000	Weak transcription	Gastric	stomach
26	chr14:67511600-67527200	Weak transcription	Brain Angular Gyrus	brain
27	chr14:67511600-67528800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:67511600-67529000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:67511600-67529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:67511600-67530200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:67511600-67530400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:67511600-67536000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:67511600-67538000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:67511600-67544600	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:67511600-67544800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:67511600-67556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:67512800-67525800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:67514800-67517200	Weak transcription	Liver	Liver
39	chr14:67515000-67517200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:67515000-67517200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:67515000-67518600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:67515600-67517400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:67515800-67517400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:67515800-67517400	Weak transcription	Brain Germinal Matrix	brain
45	chr14:67516400-67517400	Weak transcription	Fetal Lung	lung
46	chr14:67516600-67516800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:67516600-67517600	ZNF genes & repeats	GM12878-XiMat	blood
48	chr14:67516600-67517800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:67516600-67517800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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