Variant report

Variant	rs10807699
Chromosome Location	chr7:65623852-65623853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65540658..65542432-chr7:65622209..65624155,2	K562	blood:

Variant related genes	Relation type
ENSG00000126522	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs12667373	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13308751	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1546059	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs160543	0.87[AMR][1000 genomes]
rs160637	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs160638	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs160639	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs160642	0.87[AMR][1000 genomes]
rs160643	0.87[AMR][1000 genomes]
rs160644	0.87[AMR][1000 genomes]
rs160646	0.87[AMR][1000 genomes]
rs160648	0.82[AMR][1000 genomes]
rs160649	0.82[AMR][1000 genomes]
rs160651	0.82[AMR][1000 genomes]
rs160652	0.84[AMR][1000 genomes]
rs160655	0.82[AMR][1000 genomes]
rs160656	0.89[AMR][1000 genomes]
rs160657	0.89[AMR][1000 genomes]
rs182600	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs186378	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1873494	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2243480	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2257790	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2420170	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2420171	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2420172	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2460422	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2460425	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2460426	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2460431	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2465120	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2637561	0.87[AMR][1000 genomes]
rs313801	0.81[AMR][1000 genomes]
rs313802	0.81[AMR][1000 genomes]
rs313803	0.81[AMR][1000 genomes]
rs313819	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs313820	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs313822	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs313824	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs313831	0.89[AMR][1000 genomes]
rs313832	0.88[AMR][1000 genomes]
rs313833	0.88[AMR][1000 genomes]
rs316304	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316307	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs316313	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs316314	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs316315	0.84[AMR][1000 genomes]
rs316317	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316318	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316321	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316322	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316325	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316326	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316327	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316329	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316331	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs316332	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs316333	0.91[AMR][1000 genomes]
rs316334	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34032527	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs36127118	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs383402	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs387676	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs403089	0.81[AMR][1000 genomes]
rs4145008	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs419603	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs422164	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4236207	0.81[ASN][1000 genomes]
rs431076	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4481472	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs462853	0.87[AMR][1000 genomes]
rs465359	0.87[AMR][1000 genomes]
rs4718309	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718315	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718316	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718317	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6460274	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6460277	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6958289	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6959002	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6966322	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6974723	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73136349	0.88[AMR][1000 genomes]
rs7787230	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7804223	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs780453	0.91[AMR][1000 genomes]
rs958550	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9769882	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv971172	chr7:65616238-65653268	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10807699	VKORC1L1	cis	Whole Blood	GTEx
rs10807699	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs10807699	GUSB	cis	Whole Blood	GTEx
rs10807699	RP4-756H11.3	cis	lung	GTEx
rs10807699	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs10807699	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65609600-65624600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:65612000-65635400	Weak transcription	Fetal Kidney	kidney
3	chr7:65615600-65624000	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr7:65615800-65624000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:65616200-65624400	Weak transcription	Psoas Muscle	Psoas
6	chr7:65617600-65628800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:65617600-65632400	Weak transcription	Hela-S3	cervix
8	chr7:65618000-65624600	Strong transcription	Fetal Muscle Leg	muscle
9	chr7:65618200-65624000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr7:65618200-65624200	Strong transcription	Fetal Lung	lung
11	chr7:65618200-65625200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:65618200-65632400	Weak transcription	HUVEC	blood vessel
13	chr7:65618200-65635400	Weak transcription	Esophagus	oesophagus
14	chr7:65618200-65635600	Weak transcription	Right Ventricle	heart
15	chr7:65618400-65624400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:65618800-65624800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:65618800-65625400	Weak transcription	Fetal Heart	heart
18	chr7:65618800-65627600	Weak transcription	NHEK	skin
19	chr7:65619000-65625000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:65619000-65625200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:65619000-65625400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:65619000-65627800	Weak transcription	HepG2	liver
23	chr7:65619000-65631200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:65619000-65632400	Weak transcription	NHLF	lung
25	chr7:65619000-65632800	Weak transcription	Gastric	stomach
26	chr7:65619000-65635200	Weak transcription	Spleen	Spleen
27	chr7:65619000-65635400	Weak transcription	Pancreas	Pancrea
28	chr7:65619000-65635600	Weak transcription	HMEC	breast
29	chr7:65619000-65635800	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:65619400-65624200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:65619400-65625400	Weak transcription	Small Intestine	intestine
32	chr7:65619400-65632400	Weak transcription	NHDF-Ad	bronchial
33	chr7:65620000-65625000	Weak transcription	Brain Angular Gyrus	brain
34	chr7:65620600-65624000	Strong transcription	Left Ventricle	heart
35	chr7:65620800-65635400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:65621000-65624000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:65621000-65624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:65621000-65625200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:65621000-65627800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:65621200-65625800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:65622000-65624600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr7:65622400-65624000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:65622400-65632800	Weak transcription	Brain Substantia Nigra	brain
44	chr7:65622600-65625000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:65622600-65625200	ZNF genes & repeats	Fetal Stomach	stomach
46	chr7:65622600-65625400	ZNF genes & repeats	Fetal Brain Female	brain
47	chr7:65622600-65635600	Weak transcription	Stomach Mucosa	stomach
48	chr7:65622800-65624400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:65622800-65632600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:65623000-65624000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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