Variant report

Variant	rs8004402
Chromosome Location	chr14:55415822-55415823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10129318	0.83[ASN][1000 genomes]
rs10129802	0.81[ASN][1000 genomes]
rs10140164	0.83[ASN][1000 genomes]
rs10150110	0.85[ASN][1000 genomes]
rs11158029	0.82[ASN][1000 genomes]
rs11846514	0.84[ASN][1000 genomes]
rs12147796	0.82[ASN][1000 genomes]
rs17832269	0.88[ASN][1000 genomes]
rs2183085	0.81[ASN][1000 genomes]
rs2840268	0.81[ASN][1000 genomes]
rs28481699	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2878174	0.81[ASN][1000 genomes]
rs3783643	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783644	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783645	0.83[ASN][1000 genomes]
rs4325453	0.85[ASN][1000 genomes]
rs56206440	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59323730	0.82[ASN][1000 genomes]
rs6572992	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6572993	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6572994	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66769866	0.84[ASN][1000 genomes]
rs67571433	0.84[ASN][1000 genomes]
rs7146285	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7151670	0.84[ASN][1000 genomes]
rs7153937	0.81[ASN][1000 genomes]
rs7157085	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7159232	0.90[ASN][1000 genomes]
rs7159933	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159953	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72715573	0.85[ASN][1000 genomes]
rs8005471	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8006977	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8008150	0.82[ASN][1000 genomes]
rs8009997	0.88[ASN][1000 genomes]
rs8011446	0.88[ASN][1000 genomes]
rs8012152	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8013521	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015172	0.89[ASN][1000 genomes]
rs8018800	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8019220	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8019390	0.82[ASN][1000 genomes]
rs8021303	0.90[ASN][1000 genomes]
rs8022049	0.84[ASN][1000 genomes]
rs9285583	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9323275	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs943914	0.81[ASN][1000 genomes]
rs9671503	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9805952	0.82[ASN][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:73 , 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	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
5	chr14:55402800-55416000	Strong transcription	Dnd41	blood
6	chr14:55403000-55449000	Weak transcription	Gastric	stomach
7	chr14:55403200-55421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:55403200-55442600	Weak transcription	NHEK	skin
9	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
10	chr14:55403400-55421800	Weak transcription	HMEC	breast
11	chr14:55403600-55423800	Weak transcription	K562	blood
12	chr14:55403600-55428600	Weak transcription	HUVEC	blood vessel
13	chr14:55404400-55427600	Weak transcription	Primary T cells from cord blood	blood
14	chr14:55405200-55420200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:55407400-55442800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:55407600-55427800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:55408000-55421400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:55408000-55423200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:55408400-55423600	Weak transcription	GM12878-XiMat	blood
20	chr14:55408400-55429200	Weak transcription	Fetal Lung	lung
21	chr14:55409800-55423200	Weak transcription	Primary B cells from cord blood	blood
22	chr14:55410000-55427800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:55410600-55416000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:55411000-55477000	Weak transcription	Left Ventricle	heart
25	chr14:55412200-55427600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:55412400-55453400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:55412600-55433600	Weak transcription	HepG2	liver
28	chr14:55413400-55416200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:55413400-55416200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:55413600-55429400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:55414000-55433800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:55414200-55416200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr14:55414200-55416200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:55414400-55416000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:55414400-55423200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr14:55414400-55429800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:55414600-55416200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr14:55414800-55416000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:55414800-55416000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:55414800-55416000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:55414800-55416000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr14:55414800-55416200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr14:55414800-55416200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:55414800-55416200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr14:55414800-55416200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr14:55414800-55416200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr14:55414800-55416200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:55414800-55416200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:55415000-55416000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr14:55415000-55416000	ZNF genes & repeats	Fetal Intestine Small	intestine

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