Variant report

Variant	rs7492600
Chromosome Location	chr14:55336875-55336876
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55336799..55338659-chr14:55514913..55516718,2	MCF-7	breast:
2	chr14:55329931..55332245-chr14:55336217..55337731,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10133449	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10134163	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145097	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146658	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10498471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12147422	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17128050	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2183080	0.89[CEU][hapmap]
rs28477407	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28542181	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28757745	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34429973	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3783638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4363780	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4402455	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57575708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61702394	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7141319	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141433	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73280512	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8004018	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs8010282	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs8010689	0.85[EUR][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	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
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7492600	GCH1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:55306800-55337000	Weak transcription	Brain Anterior Caudate	brain
5	chr14:55311800-55337000	Weak transcription	Fetal Intestine Large	intestine
6	chr14:55321000-55337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:55321200-55337000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:55324800-55337000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:55325000-55337200	Weak transcription	Adipose Nuclei	Adipose
10	chr14:55327000-55338200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr14:55329400-55337000	Weak transcription	Fetal Intestine Small	intestine
12	chr14:55329400-55347800	Weak transcription	Primary B cells from cord blood	blood
13	chr14:55329600-55337200	Weak transcription	Stomach Mucosa	stomach
14	chr14:55330800-55337200	Weak transcription	Aorta	Aorta
15	chr14:55330800-55347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:55331400-55337000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:55331600-55337200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:55331800-55344800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:55331800-55347600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr14:55332800-55338000	Weak transcription	Small Intestine	intestine
21	chr14:55333200-55343800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:55333600-55337000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:55333600-55337000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:55333600-55337000	Weak transcription	Lung	lung
25	chr14:55333800-55337000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:55333800-55337000	Weak transcription	NHLF	lung
27	chr14:55334000-55337000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:55334000-55337000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:55334000-55337000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:55334000-55346200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:55334200-55337000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:55334200-55337000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:55334200-55337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:55334200-55337000	Weak transcription	Fetal Stomach	stomach
35	chr14:55334200-55337000	Weak transcription	Right Atrium	heart
36	chr14:55334200-55337200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:55334400-55337000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:55334400-55337200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:55334800-55337200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:55336000-55337000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:55336400-55337000	Enhancers	HepG2	liver
42	chr14:55336400-55337200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr14:55336400-55337600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:55336400-55338400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr14:55336600-55337000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:55336600-55337000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr14:55336600-55337000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:55336600-55337000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr14:55336600-55337000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr14:55336600-55337000	Enhancers	Skeletal Muscle Male	skeletal muscle

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