Variant report

Variant	rs41285472
Chromosome Location	chr14:67576670-67576671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17103832	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103837	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103839	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103943	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1950283	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2207256	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3902649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4086004	1.00[AMR][1000 genomes]
rs41285474	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41285532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41314529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4477618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45515505	1.00[AMR][1000 genomes];1.00[EUR][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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
2	chr14:67551000-67589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:67554600-67604200	Weak transcription	HMEC	breast
4	chr14:67555400-67589600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:67555400-67589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:67558600-67589600	Weak transcription	Right Ventricle	heart
7	chr14:67562200-67578800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:67562600-67593800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:67563600-67589600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:67567000-67593200	Weak transcription	Lung	lung
11	chr14:67568000-67618400	Weak transcription	Gastric	stomach
12	chr14:67569400-67590000	Weak transcription	Fetal Stomach	stomach
13	chr14:67569800-67589400	Weak transcription	Fetal Kidney	kidney
14	chr14:67570000-67579000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:67570000-67579200	Weak transcription	Left Ventricle	heart
16	chr14:67570000-67588800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:67570000-67589000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:67570000-67589800	Weak transcription	Aorta	Aorta
19	chr14:67571000-67589600	Weak transcription	Ovary	ovary
20	chr14:67571000-67589600	Weak transcription	Psoas Muscle	Psoas
21	chr14:67571600-67589400	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:67573000-67588400	Weak transcription	Brain Substantia Nigra	brain
23	chr14:67573000-67588800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:67573000-67615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:67573200-67588800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:67573200-67589600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:67573200-67619800	Weak transcription	HepG2	liver
28	chr14:67573400-67591000	Weak transcription	Spleen	Spleen
29	chr14:67573400-67615000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:67573600-67589600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:67573800-67589600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:67574000-67589600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:67574000-67589800	Weak transcription	Dnd41	blood
34	chr14:67574200-67588800	Weak transcription	Brain Anterior Caudate	brain
35	chr14:67574200-67589400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:67574200-67589800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:67574200-67591800	Weak transcription	Fetal Lung	lung
38	chr14:67574400-67589600	Weak transcription	Adipose Nuclei	Adipose
39	chr14:67574600-67600600	Weak transcription	GM12878-XiMat	blood
40	chr14:67575800-67593000	Weak transcription	Primary T cells from cord blood	blood
41	chr14:67576600-67582000	Strong transcription	Liver	Liver

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