Variant report

Variant	rs13226966
Chromosome Location	chr7:66233623-66233624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66232638..66234742-chr7:66239785..66241846,2	K562	blood:
2	chr7:66233619..66236445-chr7:66238794..66241787,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10107	0.87[EUR][1000 genomes]
rs1016265	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10233806	0.82[AFR][1000 genomes]
rs10244498	0.82[AFR][1000 genomes]
rs10265311	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10271548	0.81[EUR][1000 genomes]
rs10274883	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10278014	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10950046	0.88[EUR][1000 genomes]
rs10950049	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10950050	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11761542	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11772819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12333370	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13240501	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13242290	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13308803	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13536	0.87[EUR][1000 genomes]
rs1544549	0.84[AFR][1000 genomes]
rs1860469	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1860472	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1962050	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1968126	0.86[EUR][1000 genomes]
rs2003300	0.86[AFR][1000 genomes]
rs2013908	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2024192	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2109297	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2420820	0.84[AFR][1000 genomes]
rs2659890	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2659891	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2659892	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2659893	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2659894	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2659895	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2659896	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2659897	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2659898	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659900	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2659901	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659904	0.88[AFR][1000 genomes]
rs2659907	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2659908	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2707824	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2707837	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2707839	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2707847	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28431318	0.83[EUR][1000 genomes]
rs28480509	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28731376	0.85[EUR][1000 genomes]
rs3846973	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3926380	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4506088	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4610622	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4717315	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4718377	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4718383	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58347342	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66981195	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6951302	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6951946	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6955837	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6969679	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6971059	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6973249	0.82[EUR][1000 genomes]
rs6975044	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6978178	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs721717	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7384021	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7385102	0.86[EUR][1000 genomes]
rs7782587	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7793723	0.84[EUR][1000 genomes]
rs7800620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7805152	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808013	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs801194	0.89[EUR][1000 genomes]
rs801195	0.88[EUR][1000 genomes]
rs801202	0.87[EUR][1000 genomes]
rs801203	0.87[EUR][1000 genomes]
rs801204	0.87[EUR][1000 genomes]
rs801206	0.87[EUR][1000 genomes]
rs801208	0.87[EUR][1000 genomes]
rs801209	0.87[EUR][1000 genomes]
rs881285	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs974239	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9791712	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9791713	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[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	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	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv981512	chr7:66223352-66249901	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs13226966	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs13226966	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs13226966	GS1-124K5.2	cis	Whole Blood	GTEx
rs13226966	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs13226966	GS1-124K5.4	cis	Stomach	GTEx
rs13226966	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs13226966	RNU6-96P	cis	Thyroid	GTEx
rs13226966	RP4-756H11.3	cis	Artery Aorta	GTEx
rs13226966	RP4-756H11.3	cis	Artery Tibial	GTEx
rs13226966	GTF2IRD1P1	cis	Thyroid	GTEx
rs13226966	GS1-124K5.4	cis	Artery Aorta	GTEx
rs13226966	RP4-756H11.3	cis	Thyroid	GTEx
rs13226966	GS1-124K5.4	cis	Skin Sun Exposed Lower leg	GTEx
rs13226966	LINC00174	cis	Thyroid	GTEx
rs13226966	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs13226966	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs13226966	GS1-124K5.11	cis	Thyroid	GTEx
rs13226966	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs13226966	RP4-756H11.3	cis	lung	GTEx
rs13226966	RP4-756H11.3	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
2	chr7:66207000-66234000	Weak transcription	Fetal Thymus	thymus
3	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:66208000-66236800	Weak transcription	Dnd41	blood
8	chr7:66208000-66238000	Weak transcription	A549	lung
9	chr7:66208000-66238600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:66208000-66238600	Weak transcription	Brain Germinal Matrix	brain
11	chr7:66208000-66240800	Weak transcription	HSMMtube	muscle
12	chr7:66208000-66241800	Weak transcription	Hela-S3	cervix
13	chr7:66209400-66239000	Weak transcription	HMEC	breast
14	chr7:66212000-66236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:66213200-66234400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:66214200-66234200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:66214400-66234200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:66214400-66236600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:66214400-66239400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:66214600-66234000	Weak transcription	NHLF	lung
21	chr7:66214600-66234200	Weak transcription	Gastric	stomach
22	chr7:66215600-66234200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:66215800-66234200	Weak transcription	NHEK	skin
24	chr7:66216800-66239400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr7:66220000-66241000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:66221800-66240400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:66223600-66237600	Weak transcription	Liver	Liver
28	chr7:66223800-66234200	Weak transcription	Placenta	Placenta
29	chr7:66223800-66236800	Weak transcription	Spleen	Spleen
30	chr7:66223800-66238400	Weak transcription	Lung	lung
31	chr7:66224200-66234800	Weak transcription	HSMM	muscle
32	chr7:66224200-66238200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:66224400-66234200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:66224400-66234200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:66224400-66234400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:66224400-66237000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:66224400-66238400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:66224400-66238600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:66224800-66234000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:66224800-66234200	Weak transcription	NHDF-Ad	bronchial
41	chr7:66224800-66237000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:66225000-66234400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:66225200-66234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:66225400-66234800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:66226400-66238400	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:66226600-66234600	Weak transcription	Adipose Nuclei	Adipose
47	chr7:66227000-66243000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:66227600-66238600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:66228400-66234200	Weak transcription	Fetal Stomach	stomach
50	chr7:66228800-66234600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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