Variant report

Variant	rs7811142
Chromosome Location	chr7:100065443-100065444
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100065216-100065483	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:100064518-100065764	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr7:100064296-100066220	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:100064479-100066038	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:100065352-100066178	K562	blood:	n/a	n/a
6	POLR2A	chr7:100064965-100065585	K562	blood:	n/a	n/a
7	POLR2A	chr7:100065004-100065760	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:100064867-100065869	K562	blood:	n/a	n/a
9	POLR2A	chr7:100065433-100065843	GM12892	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100025959..100027512-chr7:100064951..100067797,2	MCF-7	breast:
2	chr7:100024644..100031194-chr7:100062394..100068680,9	K562	blood:
3	chr7:100063244..100066111-chr7:100151596..100153457,2	K562	blood:
4	chr7:100033593..100036077-chr7:100064067..100067059,3	K562	blood:
5	chr7:100063964..100066067-chr7:100271416..100274399,2	K562	blood:

No data

Variant related genes	Relation type
C7orf61	TF binding region
ENSG00000146834	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 45 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1000215	0.82[EUR][1000 genomes]
rs1073	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559117	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760536	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11761624	1.00[ASN][1000 genomes]
rs11761725	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761784	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763414	0.82[EUR][1000 genomes]
rs11763511	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764818	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766202	1.00[ASN][1000 genomes]
rs11766752	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769700	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772580	1.00[ASN][1000 genomes]
rs11773661	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962269	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003507	0.82[EUR][1000 genomes]
rs2406253	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406255	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490152	0.82[EUR][1000 genomes]
rs28578163	0.81[EUR][1000 genomes]
rs28629346	1.00[ASN][1000 genomes]
rs28660238	0.82[EUR][1000 genomes]
rs2897358	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34989573	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3900792	0.82[EUR][1000 genomes]
rs4074838	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385401	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4463351	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469386	1.00[ASN][1000 genomes]
rs4472444	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4989959	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60257855	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60478351	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60644673	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60844404	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66632384	0.82[EUR][1000 genomes]
rs66648318	1.00[ASN][1000 genomes]
rs66958101	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67040465	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67163493	0.82[EUR][1000 genomes]
rs67196635	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67239991	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67315960	0.82[EUR][1000 genomes]
rs67471932	0.82[EUR][1000 genomes]
rs67483801	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67885733	1.00[ASN][1000 genomes]
rs68116612	0.82[EUR][1000 genomes]
rs6948699	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953107	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955362	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957928	0.82[EUR][1000 genomes]
rs6962151	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970806	0.82[EUR][1000 genomes]
rs6972167	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6974286	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975514	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975729	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978739	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979335	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161759	0.82[EUR][1000 genomes]
rs73161762	0.81[EUR][1000 genomes]
rs73403312	0.82[EUR][1000 genomes]
rs73405353	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783159	0.82[EUR][1000 genomes]
rs7787620	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787825	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794485	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800667	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809801	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

mRNA abundance (count:45)

SNP	Gene	Cis/trans	Tissue	Source
rs7811142	PILRA	cis	Adipose Subcutaneous	GTEx
rs7811142	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs7811142	PILRB	cis	Esophagus Mucosa	GTEx
rs7811142	PILRA	cis	Muscle Skeletal	GTEx
rs7811142	PVRIG2P	cis	lung	GTEx
rs7811142	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs7811142	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs7811142	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs7811142	PILRB	cis	lung	GTEx
rs7811142	PILRA	cis	Nerve Tibial	GTEx
rs7811142	PILRA	cis	Artery Tibial	GTEx
rs7811142	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs7811142	PILRB	cis	multi-tissue	Pritchard
rs7811142	PILRA	cis	Thyroid	GTEx
rs7811142	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs7811142	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs7811142	PILRB	cis	Nerve Tibial	GTEx
rs7811142	PILRB	cis	Heart Left Ventricle	GTEx
rs7811142	PILRB	cis	Esophagus Muscularis	GTEx
rs7811142	PILRA	cis	Esophagus Mucosa	GTEx
rs7811142	PILRB	cis	Whole Blood	GTEx
rs7811142	PILRA	cis	Heart Left Ventricle	GTEx
rs7811142	PMS2P1	cis	Thyroid	GTEx
rs7811142	PILRB	cis	Adipose Subcutaneous	GTEx
rs7811142	PVRIG2P	cis	Nerve Tibial	GTEx
rs7811142	PILRA	cis	Esophagus Muscularis	GTEx
rs7811142	PILRB	cis	Thyroid	GTEx
rs7811142	PILRB	cis	Artery Tibial	GTEx
rs7811142	STAG3L5P	cis	Thyroid	GTEx
rs7811142	STAG3L5P	cis	Muscle Skeletal	GTEx
rs7811142	PILRB	cis	Muscle Skeletal	GTEx
rs7811142	STAG3L5P	cis	Nerve Tibial	GTEx
rs7811142	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs7811142	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs7811142	PVRIG2P	cis	Artery Tibial	GTEx
rs7811142	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs7811142	PILRA	cis	Stomach	GTEx
rs7811142	STAG3L5P	cis	Artery Aorta	GTEx
rs7811142	PILRB	cis	Artery Aorta	GTEx
rs7811142	STAG3	Cis_1M	lymphoblastoid	RTeQTL
rs7811142	PILRA	cis	Artery Aorta	GTEx
rs7811142	PVRIG2P	cis	Thyroid	GTEx
rs7811142	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs7811142	STAG3L5P	cis	lung	GTEx
rs7811142	STAG3L5P	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100048600-100068200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:100048600-100070400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:100048600-100070400	Weak transcription	HSMMtube	muscle
4	chr7:100052800-100066800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:100053600-100067000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:100054000-100067400	Weak transcription	Hela-S3	cervix
7	chr7:100054200-100069400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:100056000-100067000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:100058800-100067200	Weak transcription	Aorta	Aorta
10	chr7:100058800-100070400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:100060800-100066200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:100060800-100066800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:100060800-100067000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:100060800-100067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:100061000-100067000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr7:100061200-100069800	Weak transcription	HMEC	breast
17	chr7:100061400-100067000	Weak transcription	Primary B cells from cord blood	blood
18	chr7:100061400-100067800	Genic enhancers	Fetal Muscle Leg	muscle
19	chr7:100061400-100070200	Weak transcription	HSMM	muscle
20	chr7:100061600-100066800	Weak transcription	K562	blood
21	chr7:100061600-100068600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:100062000-100067000	Weak transcription	A549	lung
23	chr7:100062600-100066200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:100062800-100067600	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr7:100062800-100068600	Enhancers	Fetal Heart	heart
26	chr7:100063000-100067600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:100063200-100067600	Genic enhancers	Fetal Stomach	stomach
28	chr7:100063200-100069600	Weak transcription	Right Atrium	heart
29	chr7:100063400-100065600	Genic enhancers	Fetal Thymus	thymus
30	chr7:100063400-100067400	Genic enhancers	Placenta	Placenta
31	chr7:100063400-100070400	Weak transcription	HUVEC	blood vessel
32	chr7:100063600-100065600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:100063600-100065800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr7:100063600-100065800	Enhancers	Fetal Brain Male	brain
35	chr7:100063600-100066000	Active TSS	Brain Angular Gyrus	brain
36	chr7:100063600-100066000	Active TSS	Brain Anterior Caudate	brain
37	chr7:100063600-100067000	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:100063600-100067000	Strong transcription	Fetal Intestine Small	intestine
39	chr7:100063600-100067000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:100063600-100067200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:100063600-100067200	Weak transcription	Psoas Muscle	Psoas
42	chr7:100063600-100067800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:100063600-100071600	Weak transcription	Fetal Kidney	kidney
44	chr7:100063800-100066000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:100063800-100067000	Weak transcription	HepG2	liver
46	chr7:100063800-100067200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:100063800-100073000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:100063800-100073400	Weak transcription	NH-A	brain
49	chr7:100064000-100065800	Active TSS	Brain Cingulate Gyrus	brain
50	chr7:100064000-100065800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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