Variant report

Variant	rs6972167
Chromosome Location	chr7:100080013-100080014
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100025583..100035841-chr7:100071553..100080023,19	MCF-7	breast:
2	chr7:100078512..100081448-chr7:100177451..100180424,2	MCF-7	breast:
3	chr7:100073820..100078843-chr7:100079329..100083762,6	MCF-7	breast:
4	chr7:100074425..100078694-chr7:100079448..100083758,11	K562	blood:
5	chr7:100032559..100034120-chr7:100079176..100081080,2	K562	blood:
6	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
7	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
8	chr7:100079431..100084153-chr7:100084209..100089579,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166924	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000160813	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 43 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1073	0.86[ASN][1000 genomes]
rs11559117	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11760536	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11761624	0.86[ASN][1000 genomes]
rs11761725	0.86[ASN][1000 genomes]
rs11761784	0.86[ASN][1000 genomes]
rs11763511	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11764818	0.86[ASN][1000 genomes]
rs11766202	0.86[ASN][1000 genomes]
rs11766752	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11769700	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11772580	0.86[ASN][1000 genomes]
rs11773661	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1962269	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2406253	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2406255	0.86[ASN][1000 genomes]
rs28629346	0.86[ASN][1000 genomes]
rs2897358	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34989573	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4074838	0.86[ASN][1000 genomes]
rs4385401	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4463351	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4469386	0.86[ASN][1000 genomes]
rs4472444	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4989959	0.86[ASN][1000 genomes]
rs60257855	0.86[ASN][1000 genomes]
rs60478351	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60644673	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60844404	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66648318	0.86[ASN][1000 genomes]
rs66958101	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67040465	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67196635	0.86[ASN][1000 genomes]
rs67239991	0.86[ASN][1000 genomes]
rs67483801	0.86[ASN][1000 genomes]
rs67885733	0.86[ASN][1000 genomes]
rs6948699	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6953107	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6955362	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6962151	0.86[ASN][1000 genomes]
rs6974286	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6975514	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6975729	0.86[ASN][1000 genomes]
rs6978739	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6979335	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73405353	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7787620	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7787825	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7794485	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7800667	0.86[ASN][1000 genomes]
rs7809801	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7811142	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
5	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
6	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
7	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
8	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
9	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
10	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv888781	chr7:100060928-100097895	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
13	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv888784	chr7:100076614-100097895	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:43)

SNP	Gene	Cis/trans	Tissue	Source
rs6972167	PILRA	cis	Artery Tibial	GTEx
rs6972167	STAG3L5P	cis	Thyroid	GTEx
rs6972167	PILRB	cis	Esophagus Muscularis	GTEx
rs6972167	PILRB	cis	Artery Aorta	GTEx
rs6972167	PILRB	cis	Adipose Subcutaneous	GTEx
rs6972167	PILRB	cis	Thyroid	GTEx
rs6972167	PILRA	cis	Esophagus Mucosa	GTEx
rs6972167	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs6972167	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs6972167	PVRIG2P	cis	Thyroid	GTEx
rs6972167	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs6972167	PILRA	cis	Esophagus Muscularis	GTEx
rs6972167	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs6972167	STAG3L5P	cis	Artery Aorta	GTEx
rs6972167	PILRB	cis	Heart Left Ventricle	GTEx
rs6972167	PILRA	cis	Adipose Subcutaneous	GTEx
rs6972167	PMS2P1	cis	Thyroid	GTEx
rs6972167	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs6972167	PVRIG2P	cis	lung	GTEx
rs6972167	PILRB	cis	Nerve Tibial	GTEx
rs6972167	PVRIG2P	cis	Artery Tibial	GTEx
rs6972167	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs6972167	STAG3L5P	cis	Muscle Skeletal	GTEx
rs6972167	PILRA	cis	Thyroid	GTEx
rs6972167	PILRB	cis	Whole Blood	GTEx
rs6972167	PILRA	cis	Heart Left Ventricle	GTEx
rs6972167	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs6972167	PILRB	cis	Esophagus Mucosa	GTEx
rs6972167	STAG3L5P	cis	Stomach	GTEx
rs6972167	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs6972167	PILRB	cis	Artery Tibial	GTEx
rs6972167	ZCWPW1	cis	Nerve Tibial	GTEx
rs6972167	PILRA	cis	Artery Aorta	GTEx
rs6972167	PILRB	cis	lung	GTEx
rs6972167	STAG3L5P	cis	lung	GTEx
rs6972167	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs6972167	STAG3L5P	cis	Artery Tibial	GTEx
rs6972167	PILRB	cis	multi-tissue	Pritchard
rs6972167	PILRA	cis	Muscle Skeletal	GTEx
rs6972167	PILRA	cis	Nerve Tibial	GTEx
rs6972167	STAG3L5P	cis	Nerve Tibial	GTEx
rs6972167	PILRB	cis	Muscle Skeletal	GTEx
rs6972167	PILRB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100076800-100080400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:100077000-100080400	Weak transcription	Spleen	Spleen
3	chr7:100077200-100080200	Weak transcription	Ovary	ovary
4	chr7:100077200-100080400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:100077200-100080600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:100077400-100080200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:100077400-100080200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:100077400-100080200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:100077400-100080200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:100077400-100080200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:100077400-100080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:100077400-100080200	Weak transcription	Colonic Mucosa	Colon
13	chr7:100077400-100080200	Weak transcription	Esophagus	oesophagus
14	chr7:100077400-100080200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:100077400-100080200	Weak transcription	Right Ventricle	heart
16	chr7:100077400-100080200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:100077400-100080200	Weak transcription	Stomach Mucosa	stomach
18	chr7:100077400-100080400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:100077400-100080400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:100077400-100080400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:100077400-100080400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:100077400-100080400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:100077400-100080400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:100077400-100080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:100077400-100080400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:100077400-100080400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:100077400-100080400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:100077400-100080400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:100077400-100080400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:100077400-100080400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:100077400-100080400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:100077400-100080400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:100077400-100080400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:100077400-100080400	Weak transcription	Fetal Kidney	kidney
35	chr7:100077400-100080400	Weak transcription	Gastric	stomach
36	chr7:100077400-100080400	Weak transcription	Left Ventricle	heart
37	chr7:100077400-100080400	Weak transcription	Lung	lung
38	chr7:100077400-100080400	Weak transcription	Pancreas	Pancrea
39	chr7:100077400-100080400	Weak transcription	Psoas Muscle	Psoas
40	chr7:100077400-100080400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:100077400-100080400	Weak transcription	Right Atrium	heart
42	chr7:100077400-100080400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:100077400-100080400	Weak transcription	Small Intestine	intestine
44	chr7:100077400-100080400	Weak transcription	HMEC	breast
45	chr7:100077400-100080400	Weak transcription	HSMM	muscle
46	chr7:100077400-100080400	Weak transcription	HUVEC	blood vessel
47	chr7:100077400-100080400	Weak transcription	NH-A	brain
48	chr7:100077400-100080400	Weak transcription	NHDF-Ad	bronchial
49	chr7:100077400-100080400	Weak transcription	NHEK	skin
50	chr7:100077400-100080400	Weak transcription	NHLF	lung

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