Variant report

Variant	rs1796228
Chromosome Location	chr7:66033084-66033085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1267816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267817	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1267818	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1267819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698542	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13222887	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13224048	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13232193	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13235972	1.00[AFR][1000 genomes]
rs13236129	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13237037	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13237344	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13241548	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1573944	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1618893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1638731	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1638734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1638736	0.90[ASN][1000 genomes]
rs1796215	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796229	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1882655	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1922723	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2141924	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2178742	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2420609	0.91[ASN][1000 genomes]
rs2533287	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2533288	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659903	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2659911	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2659913	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2707823	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2707826	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707828	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707830	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2707831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2707832	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2707833	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2707838	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2707840	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2707844	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34073431	0.92[ASN][1000 genomes]
rs34162778	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34192067	1.00[AFR][1000 genomes]
rs34363376	0.81[EUR][1000 genomes]
rs34559676	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34700450	1.00[AFR][1000 genomes]
rs34807232	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35261784	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35370033	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35676956	1.00[AFR][1000 genomes]
rs35823062	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35825036	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36104268	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3936	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56675463	1.00[AFR][1000 genomes]
rs58668827	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58669269	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs60326618	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6460312	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66630579	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71563118	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71563136	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73135918	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73150635	0.90[ASN][1000 genomes]
rs778679	0.91[AFR][1000 genomes]
rs778683	0.91[AFR][1000 genomes]
rs778687	0.83[AFR][1000 genomes]
rs778691	1.00[AFR][1000 genomes]
rs778693	1.00[AFR][1000 genomes]
rs778701	1.00[AFR][1000 genomes]
rs778704	1.00[AFR][1000 genomes]
rs778729	0.82[AFR][1000 genomes]
rs778732	0.90[AFR][1000 genomes]
rs778733	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1796228	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs1796228	GUSB	cis	Whole Blood	GTEx
rs1796228	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs1796228	VKORC1L1	cis	Whole Blood	GTEx
rs1796228	ASL	cis	multi-tissue	Pritchard
rs1796228	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1796228	RP4-756H11.3	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:66004800-66037200	Weak transcription	Psoas Muscle	Psoas
3	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:66011000-66037000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:66011600-66045000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:66019800-66036600	Weak transcription	HUVEC	blood vessel
7	chr7:66019800-66037400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:66020000-66036600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:66020000-66037400	Weak transcription	Small Intestine	intestine
10	chr7:66021800-66056400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:66022000-66039000	Weak transcription	Aorta	Aorta
12	chr7:66022600-66035200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:66023000-66034600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:66023000-66036400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:66023000-66036600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:66023000-66036600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:66023000-66037400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:66023000-66040800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:66023000-66041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:66023200-66036800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr7:66023200-66043800	Weak transcription	Fetal Heart	heart
22	chr7:66023200-66044400	Weak transcription	Right Atrium	heart
23	chr7:66023200-66048400	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:66023200-66049800	Weak transcription	Stomach Mucosa	stomach
25	chr7:66023200-66055400	Weak transcription	Fetal Brain Male	brain
26	chr7:66023600-66042200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:66024000-66034200	Weak transcription	Brain Germinal Matrix	brain
28	chr7:66024000-66036600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:66024000-66036600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:66024000-66037200	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:66024000-66037200	Weak transcription	Colonic Mucosa	Colon
32	chr7:66024000-66037200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:66024000-66039000	Weak transcription	Right Ventricle	heart
34	chr7:66024000-66046400	Weak transcription	NHLF	lung
35	chr7:66024200-66033800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:66024200-66036600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:66024200-66037800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:66024200-66040400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:66024200-66051200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:66024200-66055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:66024200-66055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:66024400-66036000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:66024400-66036000	Weak transcription	Fetal Brain Female	brain
44	chr7:66024400-66036800	Weak transcription	Esophagus	oesophagus
45	chr7:66024400-66037200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:66024400-66038800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:66024400-66051600	Weak transcription	Spleen	Spleen
48	chr7:66025200-66035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:66025200-66037200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:66026200-66033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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