Variant report

Variant	rs35508430
Chromosome Location	chr7:66340601-66340602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12698542	0.90[AFR][1000 genomes]
rs12698551	0.96[ASN][1000 genomes]
rs13228779	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13229468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13232393	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13233569	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13235282	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13236129	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13237544	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13238478	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13238612	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13246227	0.88[EUR][1000 genomes]
rs1573944	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1638731	0.82[AFR][1000 genomes]
rs1882655	0.90[AFR][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]
rs2707832	0.90[AFR][1000 genomes]
rs2707838	0.90[AFR][1000 genomes]
rs2707840	0.90[AFR][1000 genomes]
rs34162778	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34314366	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34423980	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34559676	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34785430	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34816289	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35043782	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35111158	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35315599	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35390465	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35481333	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35624856	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35676956	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35821254	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35851021	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs36059333	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3936	0.90[AFR][1000 genomes]
rs4457208	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55849324	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55889925	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56006261	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56235846	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56675463	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59308022	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60201031	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60326618	0.90[AFR][1000 genomes]
rs6460312	0.90[AFR][1000 genomes]
rs66510832	0.84[ASN][1000 genomes]
rs67319329	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71535634	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71535635	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71563136	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs869249	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs876743	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[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	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	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
3	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs35508430	GUSB	cis	Whole Blood	GTEx
rs35508430	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs35508430	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs35508430	ASL	cis	multi-tissue	Pritchard
rs35508430	RP4-756H11.3	cis	lung	GTEx
rs35508430	ASL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66311000-66345800	Weak transcription	HSMMtube	muscle
2	chr7:66311000-66349400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:66311000-66358400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:66311200-66343000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
8	chr7:66314400-66342800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:66317200-66364400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:66319400-66364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:66321200-66367800	Weak transcription	Aorta	Aorta
12	chr7:66322400-66342600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:66322400-66364200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:66324400-66363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:66325200-66360200	Weak transcription	Psoas Muscle	Psoas
16	chr7:66325200-66366400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:66325400-66351200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:66325400-66366400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:66325400-66369400	Weak transcription	Fetal Brain Female	brain
20	chr7:66325600-66345200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:66325600-66359000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:66325600-66363600	Weak transcription	Primary B cells from cord blood	blood
23	chr7:66325600-66363600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:66325600-66373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:66325800-66343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:66325800-66344200	Weak transcription	Left Ventricle	heart
27	chr7:66325800-66344200	Weak transcription	Pancreas	Pancrea
28	chr7:66325800-66344400	Weak transcription	NHEK	skin
29	chr7:66325800-66350000	Weak transcription	Dnd41	blood
30	chr7:66325800-66352800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:66325800-66359600	Weak transcription	Spleen	Spleen
32	chr7:66325800-66363400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:66325800-66363400	Weak transcription	Brain Substantia Nigra	brain
34	chr7:66325800-66365800	Weak transcription	Esophagus	oesophagus
35	chr7:66325800-66366400	Weak transcription	Right Ventricle	heart
36	chr7:66325800-66367000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:66325800-66367600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:66326000-66343800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:66326000-66349600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:66326000-66362000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:66326000-66363600	Weak transcription	Gastric	stomach
42	chr7:66326400-66358200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:66326400-66362600	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:66326400-66363000	Weak transcription	Lung	lung
45	chr7:66326400-66368200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:66326400-66371800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:66326600-66363000	Weak transcription	Fetal Stomach	stomach
48	chr7:66326800-66344400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:66327000-66348800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:66328200-66367000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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