Variant report

Variant	rs2556602
Chromosome Location	chr14:81341608-81341609
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1197475	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs162175	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs162176	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1674557	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs189012	1.00[AMR][1000 genomes]
rs228117	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs228123	0.82[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327430	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs327438	1.00[AMR][1000 genomes]
rs327444	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs327445	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs327448	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs327449	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs327453	1.00[YRI][hapmap]
rs327455	1.00[AMR][1000 genomes]
rs327461	1.00[AMR][1000 genomes]
rs327466	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs327474	1.00[AMR][1000 genomes]
rs327475	1.00[AMR][1000 genomes]
rs327478	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs327479	1.00[AMR][1000 genomes]
rs327480	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs328253	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs442359	1.00[AMR][1000 genomes]
rs60529658	1.00[AMR][1000 genomes]
rs7141981	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149056	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8005704	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022471	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
3	chr14:81329200-81359400	Weak transcription	HSMM	muscle
4	chr14:81330400-81350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:81331200-81344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:81332600-81344400	Weak transcription	Ovary	ovary
7	chr14:81332600-81345800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:81332800-81344000	Weak transcription	Thymus	Thymus
9	chr14:81333000-81344600	Weak transcription	Aorta	Aorta
10	chr14:81334800-81344400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:81335000-81344200	Weak transcription	A549	lung
12	chr14:81336000-81344400	Weak transcription	NHEK	skin
13	chr14:81336200-81342200	Strong transcription	Dnd41	blood
14	chr14:81336600-81358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:81337200-81344200	Weak transcription	Primary B cells from cord blood	blood
16	chr14:81337200-81357400	Weak transcription	Primary T cells from cord blood	blood
17	chr14:81337800-81348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:81338000-81344800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:81338000-81346200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:81338200-81348000	Weak transcription	Liver	Liver
21	chr14:81338400-81350600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:81338800-81347600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:81338800-81353800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr14:81339400-81344000	Weak transcription	Fetal Stomach	stomach
25	chr14:81339400-81346800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:81339600-81344000	Weak transcription	Gastric	stomach
27	chr14:81339600-81348000	Weak transcription	Adipose Nuclei	Adipose
28	chr14:81339600-81348000	Weak transcription	Hela-S3	cervix
29	chr14:81339600-81351600	Weak transcription	Brain Substantia Nigra	brain
30	chr14:81339600-81359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:81340000-81348800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:81340000-81354400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:81340400-81346800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:81340600-81344000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:81340800-81344000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:81341400-81342000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr14:81341400-81344000	Weak transcription	Fetal Thymus	thymus

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