Variant report

Variant	rs12100717
Chromosome Location	chr14:55410405-55410406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11851287	0.91[AFR][1000 genomes]
rs12100729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17128082	1.00[ASW][hapmap];0.94[LWK][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes]
rs17128119	1.00[ASW][hapmap]
rs7145818	1.00[ASW][hapmap];0.89[LWK][hapmap]
rs7146775	0.80[YRI][hapmap]
rs7147147	0.80[YRI][hapmap]
rs7157783	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8003017	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8005285	0.83[AFR][1000 genomes]
rs8008931	1.00[AMR][1000 genomes]
rs8010194	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8013950	0.83[AFR][1000 genomes]
rs8019149	0.87[AMR][1000 genomes]
rs8019791	1.00[YRI][hapmap];0.81[AFR][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	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

No data

Chromatin state (count:62 , 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	chr14:55395200-55414800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:55395200-55422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:55395400-55415000	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
7	chr14:55402400-55414200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:55402600-55414800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:55402800-55414800	Weak transcription	Hela-S3	cervix
10	chr14:55402800-55416000	Strong transcription	Dnd41	blood
11	chr14:55403000-55411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:55403000-55412200	Weak transcription	Fetal Stomach	stomach
13	chr14:55403000-55413200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:55403000-55414800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:55403000-55415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:55403000-55449000	Weak transcription	Gastric	stomach
17	chr14:55403200-55411000	Weak transcription	HepG2	liver
18	chr14:55403200-55411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:55403200-55414800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:55403200-55421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:55403200-55442600	Weak transcription	NHEK	skin
22	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
23	chr14:55403400-55413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:55403400-55421800	Weak transcription	HMEC	breast
25	chr14:55403600-55423800	Weak transcription	K562	blood
26	chr14:55403600-55428600	Weak transcription	HUVEC	blood vessel
27	chr14:55403800-55413400	Weak transcription	Thymus	Thymus
28	chr14:55404200-55413200	Weak transcription	Fetal Intestine Small	intestine
29	chr14:55404400-55413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:55404400-55427600	Weak transcription	Primary T cells from cord blood	blood
31	chr14:55404600-55411400	Weak transcription	Ovary	ovary
32	chr14:55404800-55414600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:55404800-55415200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:55405200-55412400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:55405200-55420200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:55405600-55413400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:55405800-55413400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:55405800-55414800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:55405800-55414800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:55407200-55411600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:55407400-55442800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr14:55407600-55414800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:55407600-55427800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:55407800-55410600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:55407800-55414800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:55407800-55415000	Weak transcription	Fetal Thymus	thymus
47	chr14:55408000-55421400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:55408000-55423200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:55408200-55410600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:55408400-55410600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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