Variant report

Variant	rs7800667
Chromosome Location	chr7:100038945-100038946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100036909..100039233-chr7:100046455..100048526,2	MCF-7	breast:
2	chr7:100027144..100028665-chr7:100038434..100041073,2	MCF-7	breast:
3	chr7:100025055..100027029-chr7:100038017..100039888,2	MCF-7	breast:
4	chr7:100037388..100039838-chr7:100271070..100272756,2	MCF-7	breast:
5	chr7:99942281..99944536-chr7:100038040..100040733,2	K562	blood:
6	chr7:100038003..100039950-chr7:100046864..100049539,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146834	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 45 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1000215	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1073	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559117	1.00[ASN][1000 genomes]
rs11761624	1.00[ASN][1000 genomes]
rs11761725	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761784	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763414	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11763511	1.00[ASN][1000 genomes]
rs11764818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766202	1.00[ASN][1000 genomes]
rs11766752	1.00[ASN][1000 genomes]
rs11769700	1.00[ASN][1000 genomes]
rs11769886	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11771241	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11771419	0.84[EUR][1000 genomes]
rs11772580	1.00[ASN][1000 genomes]
rs11773661	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962269	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003507	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2406253	1.00[ASN][1000 genomes]
rs2406255	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490152	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28578163	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28629346	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660238	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2897358	1.00[ASN][1000 genomes]
rs34989573	1.00[ASN][1000 genomes]
rs35111986	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3900792	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4074838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385401	1.00[ASN][1000 genomes]
rs4463351	1.00[ASN][1000 genomes]
rs4469386	1.00[ASN][1000 genomes]
rs4472444	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4989959	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60257855	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60478351	1.00[ASN][1000 genomes]
rs60644673	1.00[ASN][1000 genomes]
rs60844404	1.00[ASN][1000 genomes]
rs66632384	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66648318	1.00[ASN][1000 genomes]
rs66958101	1.00[ASN][1000 genomes]
rs67040465	0.86[ASN][1000 genomes]
rs67163493	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67196635	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67239991	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67315960	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67471932	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67483801	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67885733	1.00[ASN][1000 genomes]
rs68116612	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6948699	1.00[ASN][1000 genomes]
rs6953107	1.00[ASN][1000 genomes]
rs6953749	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6955362	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957928	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6962151	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970806	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6970828	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6972167	0.86[ASN][1000 genomes]
rs6974286	1.00[ASN][1000 genomes]
rs6975514	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975729	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978739	1.00[ASN][1000 genomes]
rs6979335	1.00[ASN][1000 genomes]
rs73161759	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73161762	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73403312	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73405353	1.00[ASN][1000 genomes]
rs7783159	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7783550	0.84[EUR][1000 genomes]
rs7787620	1.00[ASN][1000 genomes]
rs7787825	1.00[ASN][1000 genomes]
rs7794485	1.00[ASN][1000 genomes]
rs7803454	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7809801	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811142	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
4	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
6	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
7	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
8	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
9	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv984550	chr7:100034415-100080060	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:45)

SNP	Gene	Cis/trans	Tissue	Source
rs7800667	PILRB	cis	Thyroid	GTEx
rs7800667	STAG3L5P	cis	Artery Tibial	GTEx
rs7800667	PVRIG2P	cis	lung	GTEx
rs7800667	STAG3	Cis_1M	lymphoblastoid	RTeQTL
rs7800667	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs7800667	PILRB	cis	Muscle Skeletal	GTEx
rs7800667	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs7800667	PILRB	cis	lung	GTEx
rs7800667	STAG3L5P	cis	Stomach	GTEx
rs7800667	PILRA	cis	Thyroid	GTEx
rs7800667	STAG3L5P	cis	Artery Aorta	GTEx
rs7800667	PILRA	cis	Heart Left Ventricle	GTEx
rs7800667	PVRIG2P	cis	Thyroid	GTEx
rs7800667	STAG3L5P	cis	Thyroid	GTEx
rs7800667	PMS2P1	cis	Thyroid	GTEx
rs7800667	PILRA	cis	Esophagus Muscularis	GTEx
rs7800667	PILRA	cis	Artery Tibial	GTEx
rs7800667	STAG3L5P	cis	lung	GTEx
rs7800667	PILRA	cis	Muscle Skeletal	GTEx
rs7800667	PILRA	cis	Adipose Subcutaneous	GTEx
rs7800667	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs7800667	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs7800667	PILRB	cis	Esophagus Mucosa	GTEx
rs7800667	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs7800667	STAG3L5P	cis	Nerve Tibial	GTEx
rs7800667	PVRIG2P	cis	Artery Tibial	GTEx
rs7800667	PILRA	cis	Nerve Tibial	GTEx
rs7800667	PILRB	cis	Whole Blood	GTEx
rs7800667	PILRB	cis	Esophagus Muscularis	GTEx
rs7800667	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs7800667	PILRB	cis	Artery Tibial	GTEx
rs7800667	PILRA	cis	Artery Aorta	GTEx
rs7800667	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs7800667	PILRB	cis	Nerve Tibial	GTEx
rs7800667	PILRB	cis	Artery Aorta	GTEx
rs7800667	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs7800667	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs7800667	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs7800667	PILRA	cis	Esophagus Mucosa	GTEx
rs7800667	PVRIG2P	cis	Nerve Tibial	GTEx
rs7800667	PILRB	cis	Adipose Subcutaneous	GTEx
rs7800667	PILRA	cis	Stomach	GTEx
rs7800667	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs7800667	STAG3L5P	cis	Muscle Skeletal	GTEx
rs7800667	PILRB	cis	Heart Left Ventricle	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100034200-100039600	Weak transcription	Lung	lung
2	chr7:100034200-100042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:100034600-100039200	Weak transcription	Fetal Stomach	stomach
4	chr7:100034600-100039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:100034600-100039400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:100034600-100039800	Weak transcription	Right Ventricle	heart
7	chr7:100034600-100041600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:100034600-100042000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:100034600-100042000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:100034600-100042000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:100034600-100042000	Weak transcription	Right Atrium	heart
12	chr7:100034600-100042000	Weak transcription	HSMM	muscle
13	chr7:100034600-100043800	Weak transcription	NHEK	skin
14	chr7:100034600-100047800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:100034600-100047800	Weak transcription	Brain Angular Gyrus	brain
16	chr7:100034600-100047800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:100034600-100047800	Weak transcription	Esophagus	oesophagus
18	chr7:100034600-100047800	Weak transcription	Fetal Brain Female	brain
19	chr7:100034600-100047800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:100034800-100039400	Weak transcription	Gastric	stomach
21	chr7:100034800-100040400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:100034800-100040800	Weak transcription	Fetal Intestine Small	intestine
23	chr7:100035000-100041000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:100035000-100041400	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:100035000-100042000	Weak transcription	Fetal Thymus	thymus
26	chr7:100035000-100042000	Weak transcription	Pancreas	Pancrea
27	chr7:100035000-100042000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:100035000-100042200	Weak transcription	Primary T cells from cord blood	blood
29	chr7:100035000-100042200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:100035000-100042200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:100035000-100042600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:100035000-100047800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:100035200-100042000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:100035200-100047800	Weak transcription	Thymus	Thymus
35	chr7:100035400-100042200	Weak transcription	GM12878-XiMat	blood
36	chr7:100035600-100039800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:100036600-100044200	Enhancers	Placenta	Placenta
38	chr7:100037000-100047800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:100037200-100039400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:100037600-100041600	Weak transcription	Osteobl	bone
41	chr7:100037600-100042000	Weak transcription	NH-A	brain
42	chr7:100037800-100039200	Weak transcription	K562	blood
43	chr7:100037800-100041400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:100038200-100039200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:100038200-100039200	Weak transcription	Spleen	Spleen
46	chr7:100038200-100039200	Weak transcription	Hela-S3	cervix
47	chr7:100038200-100039400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:100038200-100040600	Weak transcription	HepG2	liver
49	chr7:100038200-100040600	Weak transcription	HUVEC	blood vessel
50	chr7:100038200-100042000	Weak transcription	A549	lung

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