Variant report

Variant	rs8003017
Chromosome Location	chr14:55414983-55414984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11851287	0.87[AFR][1000 genomes]
rs12100717	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12100729	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17128082	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7157783	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8005285	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8008931	0.87[AMR][1000 genomes]
rs8010194	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8013950	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8019149	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1038242	chr14:55398559-55444839	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3378942	chr14:55412251-55440744	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
2	chr14:55394400-55428800	Weak transcription	HSMM	muscle
3	chr14:55395200-55422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:55395400-55415000	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
6	chr14:55402800-55416000	Strong transcription	Dnd41	blood
7	chr14:55403000-55415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:55403000-55449000	Weak transcription	Gastric	stomach
9	chr14:55403200-55421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:55403200-55442600	Weak transcription	NHEK	skin
11	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
12	chr14:55403400-55421800	Weak transcription	HMEC	breast
13	chr14:55403600-55423800	Weak transcription	K562	blood
14	chr14:55403600-55428600	Weak transcription	HUVEC	blood vessel
15	chr14:55404400-55427600	Weak transcription	Primary T cells from cord blood	blood
16	chr14:55404800-55415200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:55405200-55420200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:55407400-55442800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:55407600-55427800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:55407800-55415000	Weak transcription	Fetal Thymus	thymus
21	chr14:55408000-55421400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:55408000-55423200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:55408400-55415000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:55408400-55423600	Weak transcription	GM12878-XiMat	blood
25	chr14:55408400-55429200	Weak transcription	Fetal Lung	lung
26	chr14:55409800-55423200	Weak transcription	Primary B cells from cord blood	blood
27	chr14:55410000-55427800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:55410400-55415000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr14:55410600-55415000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:55410600-55416000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
32	chr14:55412000-55415600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:55412200-55415000	Strong transcription	Fetal Stomach	stomach
34	chr14:55412200-55427600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:55412400-55453400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:55412600-55433600	Weak transcription	HepG2	liver
37	chr14:55413200-55415000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:55413200-55415200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:55413200-55415200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:55413200-55415400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:55413200-55415400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr14:55413400-55415400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr14:55413400-55416200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:55413400-55416200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:55413600-55415600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:55413600-55429400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:55413800-55415400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:55414000-55415000	Weak transcription	Fetal Intestine Small	intestine
49	chr14:55414000-55415000	Weak transcription	Thymus	Thymus
50	chr14:55414000-55433800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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