Variant report

Variant	rs316333
Chromosome Location	chr7:65603674-65603675
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	chr7:65603533..65606431-chr7:65683250..65685813,2	K562	blood:
2	chr7:65603397..65605073-chr7:65610226..65611732,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10807699	0.91[AMR][1000 genomes]
rs13308751	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1546059	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs160543	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs160637	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs160638	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs160639	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs160642	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs160643	0.89[AMR][1000 genomes]
rs160644	0.89[AMR][1000 genomes]
rs160646	0.89[AMR][1000 genomes]
rs160648	0.84[AMR][1000 genomes]
rs160649	0.84[AMR][1000 genomes]
rs160651	0.84[AMR][1000 genomes]
rs160652	0.85[AMR][1000 genomes]
rs160655	0.84[AMR][1000 genomes]
rs160656	0.91[AMR][1000 genomes]
rs160657	0.91[AMR][1000 genomes]
rs182600	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs186378	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1873494	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2243480	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2257790	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2420170	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2420171	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2420172	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2460422	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2460425	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2460426	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2460431	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2465120	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2637561	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs313801	0.82[AMR][1000 genomes]
rs313802	0.82[AMR][1000 genomes]
rs313803	0.82[AMR][1000 genomes]
rs313819	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs313820	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs313822	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs313824	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs313831	0.91[AMR][1000 genomes]
rs313832	0.89[AMR][1000 genomes]
rs313833	0.89[AMR][1000 genomes]
rs316304	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316307	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs316313	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs316314	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs316315	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs316317	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316318	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316321	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316322	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs316325	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs316326	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs316327	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs316329	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs316331	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316332	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs316334	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34032527	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36127118	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs383402	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs387676	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs403089	0.82[AMR][1000 genomes]
rs4145008	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs419603	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs422164	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs431076	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4481472	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs458291	0.80[AMR][1000 genomes]
rs462853	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs465359	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs466983	0.80[AMR][1000 genomes]
rs4718309	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4718315	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4718316	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4718317	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6460274	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6460277	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6958289	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6959002	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6966322	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6974723	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73136349	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7787230	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7804223	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs780453	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs958550	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9769882	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv971489	chr7:65590579-65614004	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs316333	VKORC1L1	cis	Whole Blood	GTEx
rs316333	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs316333	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs316333	GUSB	cis	Whole Blood	GTEx
rs316333	RP4-756H11.3	cis	lung	GTEx
rs316333	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65580800-65606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:65581000-65617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:65581600-65604800	Weak transcription	Colonic Mucosa	Colon
4	chr7:65582400-65608200	Weak transcription	Fetal Brain Male	brain
5	chr7:65585400-65604400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:65587800-65606600	Weak transcription	Stomach Mucosa	stomach
7	chr7:65590800-65613400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:65591600-65607200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:65594600-65604000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:65594600-65604000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:65594600-65610800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:65594800-65606200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr7:65594800-65612200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:65594800-65614400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:65595000-65604000	Weak transcription	HUVEC	blood vessel
16	chr7:65595000-65614400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:65595000-65614600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:65595000-65615200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:65595200-65605000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:65595200-65606200	Strong transcription	Fetal Muscle Leg	muscle
21	chr7:65595200-65613600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:65595200-65614000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:65595200-65622000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:65595600-65623200	Strong transcription	Dnd41	blood
25	chr7:65595600-65623800	Strong transcription	Primary T cells from cord blood	blood
26	chr7:65595800-65605600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:65595800-65608200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:65595800-65617200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:65595800-65620000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:65596400-65604400	Strong transcription	HSMM	muscle
31	chr7:65596600-65606400	Weak transcription	Gastric	stomach
32	chr7:65596600-65607200	Weak transcription	Right Ventricle	heart
33	chr7:65596800-65606800	Weak transcription	Ovary	ovary
34	chr7:65597000-65606400	Weak transcription	Pancreas	Pancrea
35	chr7:65597400-65606800	Weak transcription	Psoas Muscle	Psoas
36	chr7:65597600-65606600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:65597600-65606800	Weak transcription	Fetal Kidney	kidney
38	chr7:65597600-65607200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:65597800-65604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:65598200-65604000	Weak transcription	NHLF	lung
41	chr7:65598200-65604200	Weak transcription	NHEK	skin
42	chr7:65598200-65608000	Weak transcription	Small Intestine	intestine
43	chr7:65598800-65607000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:65598800-65613600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:65599000-65612200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:65599200-65605400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:65599200-65612200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr7:65599200-65612800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:65599200-65614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:65599200-65623400	Strong transcription	Primary B cells from peripheral blood	blood

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