Variant report

Variant	rs801216
Chromosome Location	chr7:66011667-66011668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10215132	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10229345	0.94[EUR][1000 genomes]
rs10234018	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10249404	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10255377	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10263935	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10272357	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10272546	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10274773	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10278371	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10278816	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10281080	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10950041	0.84[AFR][1000 genomes]
rs10950044	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1110414	0.81[EUR][1000 genomes]
rs11765356	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11771318	0.82[EUR][1000 genomes]
rs11772264	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11772636	0.82[EUR][1000 genomes]
rs11773829	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532998	0.84[AFR][1000 genomes]
rs12533585	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12533997	0.83[AFR][1000 genomes]
rs12535036	0.84[AFR][1000 genomes]
rs12698523	0.84[AFR][1000 genomes]
rs12698532	0.87[AFR][1000 genomes]
rs12698534	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13224319	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13309022	0.83[AFR][1000 genomes]
rs1553609	0.82[EUR][1000 genomes]
rs1553610	0.82[EUR][1000 genomes]
rs1643374	0.81[EUR][1000 genomes]
rs1860468	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1860470	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1961155	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1968127	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003301	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2013222	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2191268	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2277911	0.84[AFR][1000 genomes]
rs2286683	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2286684	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2302918	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2420824	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2420827	0.83[ASN][1000 genomes]
rs2659889	0.81[EUR][1000 genomes]
rs2659906	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2659909	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2659912	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2659915	0.83[EUR][1000 genomes]
rs2659916	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707822	0.82[EUR][1000 genomes]
rs2707827	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2707836	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2707841	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2707845	0.81[EUR][1000 genomes]
rs2707849	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2707850	0.82[EUR][1000 genomes]
rs2707853	0.82[EUR][1000 genomes]
rs2707854	0.80[EUR][1000 genomes]
rs2707856	0.82[EUR][1000 genomes]
rs28698552	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28830215	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35410151	0.82[AFR][1000 genomes]
rs35526611	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35986979	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3735148	0.83[AFR][1000 genomes]
rs3764903	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800812	0.82[EUR][1000 genomes]
rs3800820	0.81[EUR][1000 genomes]
rs3800823	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3857686	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3857688	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3898855	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4279493	0.82[EUR][1000 genomes]
rs4717310	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4718357	0.84[AFR][1000 genomes]
rs4718361	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718363	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56229325	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62465434	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62466793	0.81[EUR][1000 genomes]
rs62466794	0.82[EUR][1000 genomes]
rs62467857	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6460300	0.84[AFR][1000 genomes]
rs6460305	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460308	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6460309	0.87[ASN][1000 genomes]
rs6943696	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6947808	0.82[AFR][1000 genomes]
rs6949912	0.85[ASN][1000 genomes]
rs6957199	0.89[AFR][1000 genomes]
rs6958271	0.89[AFR][1000 genomes]
rs6958277	0.88[AFR][1000 genomes]
rs6958520	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6960778	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6961186	0.82[AFR][1000 genomes]
rs6965056	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6970030	0.82[AFR][1000 genomes]
rs6970357	0.84[AFR][1000 genomes]
rs6970860	0.89[AFR][1000 genomes]
rs6978429	0.82[AFR][1000 genomes]
rs71563125	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs732465	0.89[AFR][1000 genomes]
rs7357230	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7779971	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7783924	0.81[EUR][1000 genomes]
rs7785213	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7788576	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7789184	0.82[EUR][1000 genomes]
rs7789419	0.81[ASN][1000 genomes]
rs7793569	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7807930	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7807944	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs801190	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs801191	0.82[AFR][1000 genomes]
rs801193	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs801196	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs801201	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs801205	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs801207	0.89[AFR][1000 genomes]
rs801211	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs801217	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs810400	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9791890	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised 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	29 gene(s)	inside rSNPs	diseases
10	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
11	nsv967444	chr7:65992587-66013934	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs801216	RP4-756H11.3	cis	Thyroid	GTEx
rs801216	RP4-756H11.3	cis	lung	GTEx
rs801216	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs801216	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs801216	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs801216	RP4-756H11.3	cis	Stomach	GTEx
rs801216	RP4-756H11.3	cis	Artery Aorta	GTEx
rs801216	RP4-756H11.3	cis	Artery Tibial	GTEx
rs801216	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs801216	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs801216	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs801216	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs801216	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65994000-66014400	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:65995000-66017200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:65999800-66022400	Strong transcription	Fetal Stomach	stomach
4	chr7:66000600-66019200	Weak transcription	Fetal Kidney	kidney
5	chr7:66000800-66016600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:66001200-66014400	Weak transcription	A549	lung
7	chr7:66001400-66022400	Weak transcription	Stomach Mucosa	stomach
8	chr7:66002800-66016000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:66003600-66018800	Weak transcription	GM12878-XiMat	blood
10	chr7:66003800-66022200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr7:66003800-66022800	Strong transcription	Fetal Intestine Small	intestine
12	chr7:66004200-66012400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:66004600-66016600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:66004800-66015400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:66004800-66019200	Weak transcription	HUVEC	blood vessel
17	chr7:66004800-66037200	Weak transcription	Psoas Muscle	Psoas
18	chr7:66005000-66014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:66005000-66016800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:66005200-66016600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:66005200-66022400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr7:66005800-66016800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:66006000-66020000	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:66006000-66022200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:66006200-66011800	Strong transcription	Pancreas	Pancrea
26	chr7:66006200-66011800	Strong transcription	Dnd41	blood
27	chr7:66006200-66013800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:66006200-66019400	Strong transcription	Adipose Nuclei	Adipose
29	chr7:66006200-66021000	Strong transcription	Fetal Intestine Large	intestine
30	chr7:66006200-66022200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:66006200-66022400	Strong transcription	Lung	lung
32	chr7:66006200-66022600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:66006200-66024400	Strong transcription	Fetal Muscle Leg	muscle
34	chr7:66006200-66024400	Strong transcription	Thymus	Thymus
35	chr7:66006400-66022800	Strong transcription	Brain Germinal Matrix	brain
36	chr7:66006600-66022800	Weak transcription	Fetal Brain Male	brain
37	chr7:66006800-66013200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr7:66006800-66014400	Weak transcription	NHEK	skin
39	chr7:66007600-66021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:66007800-66012600	Strong transcription	Brain Anterior Caudate	brain
41	chr7:66008000-66016400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:66008000-66016600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:66008000-66017400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:66008200-66011800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr7:66008200-66012400	Weak transcription	Hela-S3	cervix
46	chr7:66008200-66012400	Weak transcription	NHDF-Ad	bronchial
47	chr7:66008200-66016400	Weak transcription	HMEC	breast
48	chr7:66008200-66016600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:66008200-66016600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:66008200-66017000	Weak transcription	NH-A	brain

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