Variant report

Variant	rs68116612
Chromosome Location	chr7:100006493-100006494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100005884..100007386-chr7:100025487..100027604,2	MCF-7	breast:
2	chr1:177915581..177916475-chr7:100005882..100006543,2	MCF-7	breast:
3	chr7:100005350..100006863-chr7:100013714..100015636,2	K562	blood:
4	chr7:100005350..100006968-chr7:100012399..100015636,3	K562	blood:
5	chr7:100004996..100007914-chr7:100015994..100017837,2	MCF-7	breast:
6	chr7:100004091..100007847-chr7:100024893..100029911,8	MCF-7	breast:
7	chr7:99965537..99967599-chr7:100004914..100006864,2	K562	blood:

Variant related genes	Relation type
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 40 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1000215	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085549	0.84[ASN][1000 genomes]
rs1063945	0.84[ASN][1000 genomes]
rs1073	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11761253	0.84[ASN][1000 genomes]
rs11761306	0.84[ASN][1000 genomes]
rs11761426	0.84[ASN][1000 genomes]
rs11761725	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11761784	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11763414	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764818	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11765869	0.84[ASN][1000 genomes]
rs11766752	0.81[EUR][1000 genomes]
rs11768933	0.84[ASN][1000 genomes]
rs11768967	0.84[ASN][1000 genomes]
rs11769057	0.84[ASN][1000 genomes]
rs11769886	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771241	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771419	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11771799	0.84[ASN][1000 genomes]
rs11771936	0.84[ASN][1000 genomes]
rs11773661	0.81[EUR][1000 genomes]
rs1636980	0.84[ASN][1000 genomes]
rs1962269	0.81[EUR][1000 genomes]
rs1964242	0.84[ASN][1000 genomes]
rs2003507	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108269	0.84[ASN][1000 genomes]
rs2406255	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28490152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28495773	0.84[ASN][1000 genomes]
rs28578163	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28629346	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28660238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680963	0.84[ASN][1000 genomes]
rs3087502	0.84[ASN][1000 genomes]
rs35111986	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35986051	0.84[ASN][1000 genomes]
rs3900792	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074838	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41280971	0.84[ASN][1000 genomes]
rs4472444	0.81[EUR][1000 genomes]
rs4989959	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60257855	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61735533	0.84[ASN][1000 genomes]
rs66632384	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66958101	0.81[EUR][1000 genomes]
rs67163493	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67196635	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67239991	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67315960	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67471932	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67483801	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6946768	0.84[ASN][1000 genomes]
rs6948685	0.84[ASN][1000 genomes]
rs6953749	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955362	0.82[EUR][1000 genomes]
rs6955367	0.84[ASN][1000 genomes]
rs6957928	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962151	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965207	0.84[ASN][1000 genomes]
rs6965458	0.84[ASN][1000 genomes]
rs6970806	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970828	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6975514	0.82[EUR][1000 genomes]
rs6975563	0.84[ASN][1000 genomes]
rs6975660	0.84[ASN][1000 genomes]
rs6975729	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979910	0.84[ASN][1000 genomes]
rs705866	0.84[ASN][1000 genomes]
rs73161759	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161762	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401443	0.84[ASN][1000 genomes]
rs73401450	0.84[ASN][1000 genomes]
rs73401451	0.84[ASN][1000 genomes]
rs73403312	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7341507	0.84[ASN][1000 genomes]
rs7783159	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783550	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7786844	0.84[ASN][1000 genomes]
rs7792525	0.84[ASN][1000 genomes]
rs7794485	0.81[EUR][1000 genomes]
rs7795656	0.84[ASN][1000 genomes]
rs7795805	0.84[ASN][1000 genomes]
rs7799894	0.84[ASN][1000 genomes]
rs7799932	0.84[ASN][1000 genomes]
rs7800667	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7803454	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809801	0.81[EUR][1000 genomes]
rs7811142	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases

mRNA abundance (count:40)

SNP	Gene	Cis/trans	Tissue	Source
rs68116612	PILRA	cis	Thyroid	GTEx
rs68116612	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs68116612	PVRIG2P	cis	Thyroid	GTEx
rs68116612	PILRB	cis	lung	GTEx
rs68116612	PVRIG2P	cis	Nerve Tibial	GTEx
rs68116612	PILRA	cis	Adipose Subcutaneous	GTEx
rs68116612	PILRB	cis	Nerve Tibial	GTEx
rs68116612	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs68116612	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs68116612	PILRB	cis	Thyroid	GTEx
rs68116612	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs68116612	PILRA	cis	Artery Aorta	GTEx
rs68116612	PILRA	cis	Artery Tibial	GTEx
rs68116612	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs68116612	STAG3L5P	cis	Artery Tibial	GTEx
rs68116612	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs68116612	PILRA	cis	Esophagus Muscularis	GTEx
rs68116612	PILRA	cis	Esophagus Mucosa	GTEx
rs68116612	STAG3L5P	cis	Artery Aorta	GTEx
rs68116612	STAG3L5P	cis	Thyroid	GTEx
rs68116612	ZCWPW1	cis	Nerve Tibial	GTEx
rs68116612	PILRA	cis	Heart Left Ventricle	GTEx
rs68116612	PILRB	cis	Artery Tibial	GTEx
rs68116612	PILRA	cis	Nerve Tibial	GTEx
rs68116612	PILRB	cis	Artery Aorta	GTEx
rs68116612	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs68116612	STAG3L5P	cis	lung	GTEx
rs68116612	PILRB	cis	Esophagus Mucosa	GTEx
rs68116612	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs68116612	PILRB	cis	Heart Left Ventricle	GTEx
rs68116612	PILRB	cis	Whole Blood	GTEx
rs68116612	PILRB	cis	Muscle Skeletal	GTEx
rs68116612	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs68116612	STAG3L5P	cis	Muscle Skeletal	GTEx
rs68116612	PILRB	cis	Adipose Subcutaneous	GTEx
rs68116612	PILRA	cis	Muscle Skeletal	GTEx
rs68116612	PVRIG2P	cis	Artery Tibial	GTEx
rs68116612	PVRIG2P	cis	lung	GTEx
rs68116612	STAG3L5P	cis	Nerve Tibial	GTEx
rs68116612	PILRB	cis	Esophagus Muscularis	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
2	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:99987800-100025400	Weak transcription	Right Ventricle	heart
4	chr7:99995000-100025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:99995000-100026000	Weak transcription	Primary T cells from cord blood	blood
6	chr7:99996000-100006800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:99996200-100007200	Weak transcription	Spleen	Spleen
8	chr7:99996200-100013800	Weak transcription	Fetal Stomach	stomach
9	chr7:99996200-100025400	Weak transcription	Brain Substantia Nigra	brain
10	chr7:99996600-100016800	Weak transcription	Brain Angular Gyrus	brain
11	chr7:99996600-100017000	Weak transcription	Adipose Nuclei	Adipose
12	chr7:99997000-100016000	Weak transcription	Ovary	ovary
13	chr7:99997400-100025600	Weak transcription	Aorta	Aorta
14	chr7:99998800-100008200	Weak transcription	Lung	lung
15	chr7:99998800-100025400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:99999000-100025400	Weak transcription	Left Ventricle	heart
17	chr7:99999400-100025400	Weak transcription	Psoas Muscle	Psoas
18	chr7:100000200-100013000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:100000200-100016800	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:100000200-100025400	Weak transcription	Liver	Liver
21	chr7:100001400-100009800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:100002800-100013200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:100002800-100025400	Weak transcription	Brain Anterior Caudate	brain
24	chr7:100004200-100010800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:100005200-100010000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:100005400-100007600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:100005400-100010600	Weak transcription	GM12878-XiMat	blood
28	chr7:100005400-100024800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:100005600-100008000	Weak transcription	Primary B cells from cord blood	blood
30	chr7:100006000-100006600	Enhancers	Fetal Thymus	thymus

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