Variant report

Variant	rs4901542
Chromosome Location	chr14:55235767-55235768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55218220..55220740-chr14:55234836..55237830,2	MCF-7	breast:
2	chr14:55220923..55225208-chr14:55233261..55241446,8	K562	blood:
3	chr14:55227116..55230514-chr14:55233317..55236938,4	K562	blood:
4	chr14:55031111..55034291-chr14:55232993..55236845,3	K562	blood:
5	chr14:55234866..55237900-chr14:55238411..55240727,3	K562	blood:
6	chr14:55235323..55237263-chr14:55237473..55239035,2	MCF-7	breast:
7	chr14:55039146..55042009-chr14:55234061..55236151,2	K562	blood:
8	chr14:55227609..55229799-chr14:55235198..55236811,2	MCF-7	breast:
9	chr14:55030063..55033521-chr14:55235230..55238189,3	MCF-7	breast:
10	chr14:55032032..55035712-chr14:55234318..55237579,5	MCF-7	breast:
11	chr14:55029820..55035664-chr14:55234750..55242867,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1114050	0.82[JPT][hapmap]
rs1114051	0.82[JPT][hapmap]
rs11431	0.81[LWK][hapmap];0.83[YRI][hapmap]
rs2281650	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2281652	0.84[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2295824	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3813402	0.82[JPT][hapmap]
rs4402472	0.82[JPT][hapmap]
rs4409990	0.82[JPT][hapmap]
rs4506812	0.82[JPT][hapmap]
rs4901541	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6572977	0.82[JPT][hapmap]
rs709939	0.84[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7143189	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7155922	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7158665	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8006657	0.82[JPT][hapmap];0.87[YRI][hapmap]
rs8021151	0.82[JPT][hapmap]
rs8021325	0.82[JPT][hapmap]
rs8021957	0.82[JPT][hapmap]
rs8022503	0.82[JPT][hapmap]
rs911614	0.87[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs927382	0.82[JPT][hapmap]
rs927383	0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55165800-55239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55202800-55239800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:55214800-55237000	Strong transcription	Liver	Liver
4	chr14:55216800-55239800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:55217800-55239600	Weak transcription	Fetal Lung	lung
6	chr14:55218200-55236200	Strong transcription	Stomach Smooth Muscle	stomach
7	chr14:55219200-55237000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:55219600-55239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:55220400-55237800	Strong transcription	HepG2	liver
10	chr14:55220600-55237400	Strong transcription	NHLF	lung
11	chr14:55220600-55240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:55222400-55240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:55223600-55236000	Strong transcription	Fetal Stomach	stomach
14	chr14:55224600-55239000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:55224800-55237000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:55225000-55236800	Weak transcription	Psoas Muscle	Psoas
17	chr14:55225200-55239800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:55225200-55240200	Weak transcription	Esophagus	oesophagus
19	chr14:55225800-55236800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:55225800-55238800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:55226000-55237200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:55226000-55239000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:55226200-55237400	Strong transcription	Adipose Nuclei	Adipose
24	chr14:55226400-55238800	Weak transcription	A549	lung
25	chr14:55226400-55239200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:55227400-55236000	Strong transcription	Colon Smooth Muscle	Colon
27	chr14:55228200-55239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:55228600-55236000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:55228800-55239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:55229000-55240200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:55229400-55238400	Strong transcription	HSMM	muscle
32	chr14:55229800-55237800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:55229800-55238400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:55229800-55239000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:55230200-55236200	Strong transcription	HSMMtube	muscle
36	chr14:55230600-55236600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:55231000-55239800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:55231000-55240200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:55231200-55235800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:55231200-55237600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:55231200-55238600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:55231600-55239400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:55231800-55240200	Weak transcription	Ovary	ovary
44	chr14:55231800-55240400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:55231800-55245400	Weak transcription	Pancreas	Pancrea
46	chr14:55232000-55238200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:55232000-55239000	Weak transcription	HMEC	breast
48	chr14:55232000-55239200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:55232200-55237000	Enhancers	Fetal Heart	heart
50	chr14:55233000-55237200	Strong transcription	Brain Substantia Nigra	brain

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