Variant report

Variant	rs7145727
Chromosome Location	chr14:55847573-55847574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55827842..55829684-chr14:55847193..55849641,2	MCF-7	breast:
2	chr14:55845918..55850716-chr14:55877074..55879382,5	K562	blood:

Variant related genes	Relation type
ENSG00000126775	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10136596	0.86[EUR][1000 genomes]
rs10137307	0.84[EUR][1000 genomes]
rs10139000	0.87[EUR][1000 genomes]
rs10142448	0.86[EUR][1000 genomes]
rs10144345	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10144418	0.84[EUR][1000 genomes]
rs10147765	0.86[EUR][1000 genomes]
rs10149420	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10150760	0.86[EUR][1000 genomes]
rs1045002	0.86[EUR][1000 genomes]
rs11625968	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11626751	0.85[EUR][1000 genomes]
rs11851169	0.87[EUR][1000 genomes]
rs1572611	0.83[EUR][1000 genomes]
rs17128440	0.90[EUR][1000 genomes]
rs17674463	0.86[EUR][1000 genomes]
rs17674563	0.83[EUR][1000 genomes]
rs17741542	0.87[EUR][1000 genomes]
rs17741831	0.87[EUR][1000 genomes]
rs1815580	0.85[EUR][1000 genomes]
rs1815581	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2009291	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2016931	0.87[EUR][1000 genomes]
rs2182797	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2209808	0.83[EUR][1000 genomes]
rs28428911	0.87[EUR][1000 genomes]
rs28430823	0.87[EUR][1000 genomes]
rs28493647	0.86[EUR][1000 genomes]
rs28612464	0.86[EUR][1000 genomes]
rs28631821	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28660594	0.87[EUR][1000 genomes]
rs28716725	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3742569	0.86[EUR][1000 genomes]
rs3783648	0.83[EUR][1000 genomes]
rs3783650	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783652	0.87[EUR][1000 genomes]
rs3825616	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4597235	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56270323	0.90[EUR][1000 genomes]
rs6573017	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573020	0.87[EUR][1000 genomes]
rs66486619	0.89[EUR][1000 genomes]
rs7144737	0.86[EUR][1000 genomes]
rs7147136	0.83[EUR][1000 genomes]
rs7153110	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7154889	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159144	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8006525	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8008119	0.86[EUR][1000 genomes]
rs8013713	0.87[EUR][1000 genomes]
rs8022041	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9323284	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs946059	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9919926	0.83[EUR][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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901957	chr14:55819219-55853724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55814400-55853200	Weak transcription	Right Atrium	heart
3	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:55819400-55847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:55819400-55850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:55821400-55848800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:55821400-55849200	Weak transcription	Fetal Heart	heart
10	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:55823200-55848400	Weak transcription	HMEC	breast
12	chr14:55824000-55848400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:55831000-55859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:55831800-55858000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:55832000-55849600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:55832000-55850800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:55832400-55857800	Strong transcription	Liver	Liver
18	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
19	chr14:55838200-55850400	Weak transcription	Stomach Mucosa	stomach
20	chr14:55838600-55849200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr14:55838600-55853600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:55839400-55849000	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:55839400-55859200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:55839600-55858600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr14:55839800-55848400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:55839800-55848400	Weak transcription	K562	blood
27	chr14:55840200-55858800	Strong transcription	Primary B cells from cord blood	blood
28	chr14:55840400-55856600	Strong transcription	Fetal Intestine Large	intestine
29	chr14:55840400-55856800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:55840600-55848600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:55840600-55849400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:55840600-55849600	Strong transcription	Fetal Lung	lung
33	chr14:55840600-55851800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:55840600-55854200	Strong transcription	Brain Cingulate Gyrus	brain
35	chr14:55841000-55849400	Strong transcription	Adipose Nuclei	Adipose
36	chr14:55841000-55859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:55841200-55849000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr14:55841800-55855000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:55842000-55848000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:55842000-55850600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr14:55842000-55856200	Strong transcription	Fetal Muscle Leg	muscle
42	chr14:55842200-55849200	Strong transcription	Brain Germinal Matrix	brain
43	chr14:55842200-55852400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:55842200-55856400	Strong transcription	Placenta	Placenta
45	chr14:55842400-55848600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:55842400-55849000	Strong transcription	NHDF-Ad	bronchial
47	chr14:55842400-55852000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr14:55842400-55852400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:55842400-55852600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:55842400-55854200	Strong transcription	Brain Hippocampus Middle	brain

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