Variant report

Variant	rs4457208
Chromosome Location	chr7:66372821-66372822
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	chr7:66311208..66313508-chr7:66370726..66373316,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232546	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12698542	0.90[AFR][1000 genomes]
rs12698551	1.00[ASN][1000 genomes]
rs13228779	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13229468	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13232393	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233569	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235282	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13236129	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13237544	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13238478	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238612	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13246227	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1573944	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1880644	0.81[EUR][1000 genomes]
rs1922723	0.90[AFR][1000 genomes]
rs2141924	0.90[AFR][1000 genomes]
rs2178742	0.90[AFR][1000 genomes]
rs2659903	0.90[AFR][1000 genomes]
rs2659911	0.90[AFR][1000 genomes]
rs2659913	0.90[AFR][1000 genomes]
rs2707823	0.90[AFR][1000 genomes]
rs2707826	0.82[AFR][1000 genomes]
rs2707828	0.80[AFR][1000 genomes]
rs2707830	0.90[AFR][1000 genomes]
rs2707838	0.90[AFR][1000 genomes]
rs2707840	0.90[AFR][1000 genomes]
rs34162778	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs34314366	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34423980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34559676	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs34785430	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34816289	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35043782	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35111158	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35315599	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35390465	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35481333	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35508430	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35624856	0.88[ASN][1000 genomes]
rs35676956	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs35821254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35851021	0.88[ASN][1000 genomes]
rs35876551	0.81[EUR][1000 genomes]
rs36059333	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55849324	0.91[ASN][1000 genomes]
rs55889925	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56006261	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56235846	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56675463	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs59308022	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs60201031	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60326618	0.90[AFR][1000 genomes]
rs6460312	0.90[AFR][1000 genomes]
rs66510832	0.83[ASN][1000 genomes]
rs67319329	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71535634	0.85[ASN][1000 genomes]
rs71535635	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs71563136	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs869249	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4457208	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs4457208	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4457208	GUSB	cis	Whole Blood	GTEx
rs4457208	RP4-756H11.3	cis	lung	GTEx
rs4457208	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:66325600-66373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:66331800-66378400	Weak transcription	A549	lung
5	chr7:66350600-66385200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:66353200-66379600	Weak transcription	GM12878-XiMat	blood
7	chr7:66355600-66375400	Weak transcription	Fetal Brain Male	brain
8	chr7:66363200-66373000	Weak transcription	Right Atrium	heart
9	chr7:66364000-66375600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:66364400-66385400	Weak transcription	HSMMtube	muscle
11	chr7:66364800-66378400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:66364800-66385000	Weak transcription	Brain Anterior Caudate	brain
13	chr7:66365000-66373400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:66366400-66385600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:66366600-66374200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:66366800-66375800	Weak transcription	HepG2	liver
17	chr7:66366800-66378800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:66367400-66373800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:66367600-66375600	Weak transcription	Lung	lung
20	chr7:66368000-66373200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:66368000-66385400	Weak transcription	Adipose Nuclei	Adipose
22	chr7:66368400-66373800	Weak transcription	Pancreas	Pancrea
23	chr7:66369000-66385400	Weak transcription	Thymus	Thymus
24	chr7:66369000-66385600	Weak transcription	Ovary	ovary
25	chr7:66369400-66378800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:66370000-66375000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:66370000-66385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:66370200-66385400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:66370400-66373000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:66370400-66373800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:66370600-66373800	Weak transcription	Placenta	Placenta
32	chr7:66370600-66378800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:66370800-66385000	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:66371000-66378200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:66371000-66385200	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:66371200-66373200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:66371200-66373800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:66371200-66382000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:66371200-66385400	Weak transcription	Fetal Intestine Small	intestine
40	chr7:66371200-66385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:66371400-66373000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:66371800-66376800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:66371800-66382400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:66371800-66385400	Weak transcription	Fetal Stomach	stomach
45	chr7:66372600-66373400	Enhancers	K562	blood
46	chr7:66372800-66373400	Enhancers	Liver	Liver

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