Variant report

Variant	rs7786505
Chromosome Location	chr7:99817585-99817586
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr7:99817520-99817720	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:99817518-99817934	GM19193	blood:	n/a	n/a
3	TCF3	chr7:99817364-99818136	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:99817407-99820355	GM12892	blood:	n/a	n/a
5	POLR2A	chr7:99816719-99820771	GM12891	blood:	n/a	n/a
6	POLR2A	chr7:99817221-99817747	K562	blood:	n/a	n/a
7	POLR2A	chr7:99817240-99817823	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:99816751-99820770	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:99817574-99817763	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:99816142-99821987	GM12892	blood:	n/a	n/a
11	POLR2A	chr7:99816335-99820771	GM12891	blood:	n/a	n/a
12	POLR2A	chr7:99816171-99821984	GM12892	blood:	n/a	n/a
13	MTA3	chr7:99817447-99818001	GM12878	blood:	n/a	n/a
14	STAT5A	chr7:99817463-99817998	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:99817233-99819624	Raji	blood:	n/a	n/a
16	MAZ	chr7:99817576-99817763	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:99816624-99820763	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:99816687-99820749	GM12891	blood:	n/a	n/a
19	POLR2A	chr7:99817297-99818016	A549	lung:	n/a	n/a
20	POLR2A	chr7:99816169-99821811	GM12878	blood:	n/a	n/a
21	SPI1	chr7:99817339-99817588	GM12891	blood:	n/a	n/a
22	POLR2A	chr7:99817370-99818219	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:99817387-99820743	GM18505	blood:	n/a	n/a
24	POLR2A	chr7:99816750-99817898	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:99816723-99820789	GM12878	blood:	n/a	n/a
26	POU2F2	chr7:99816363-99818374	GM12878	blood:	n/a	n/a
27	ZEB1	chr7:99817492-99817739	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:99817472-99817924	GM18951	blood:	n/a	n/a
29	TAF1	chr7:99817336-99818104	GM12878	blood:	n/a	n/a
30	PAX5	chr7:99817152-99817642	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:99816676-99820806	GM12891	blood:	n/a	n/a
32	PAX5	chr7:99817360-99817605	GM12878	blood:	n/a	n/a
33	SP1	chr7:99817351-99817661	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:99816181-99824845	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:99817474-99819772	GM15510	blood:	n/a	n/a
36	RUNX3	chr7:99817489-99817974	GM12878	blood:	n/a	n/a
37	ELF1	chr7:99816756-99817979	GM12878	blood:	n/a	n/a
38	PML	chr7:99817337-99818026	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:99816227-99819934	GM12892	blood:	n/a	n/a
40	SPI1	chr7:99817299-99817679	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99816172..99818771-chr7:99820736..99823098,2	MCF-7	breast:
2	chr7:99727332..99729925-chr7:99816500..99818908,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239521	TF binding region
ENSG00000239521	Chromatin interaction
ENSG00000235077	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10246243	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10269641	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11531577	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11762932	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11771660	0.90[EUR][1000 genomes]
rs12056000	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056726	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2272343	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56089143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56922690	0.80[AFR][1000 genomes]
rs59248100	0.89[EUR][1000 genomes]
rs6943160	0.86[EUR][1000 genomes]
rs6947033	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953580	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399514	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7782305	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789890	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801070	0.93[EUR][1000 genomes]
rs941288	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	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
5	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	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
13	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs7786505	ENSG00000213413	cis	multi-tissue	Pritchard
rs7786505	PILRB	cis	Artery Tibial	GTEx
rs7786505	PILRB	cis	lung	GTEx
rs7786505	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs7786505	STAG3L5P	cis	Nerve Tibial	GTEx
rs7786505	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs7786505	LOC389541	Cis_1M	lymphoblastoid	RTeQTL
rs7786505	PILRB	cis	Nerve Tibial	GTEx
rs7786505	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs7786505	PILRA	cis	Thyroid	GTEx
rs7786505	STAG3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99801400-99826000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:99805200-99818400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:99806800-99819000	Weak transcription	Fetal Lung	lung
4	chr7:99807200-99828400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:99807200-99847000	Weak transcription	Fetal Kidney	kidney
6	chr7:99807600-99818400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:99809000-99817600	Weak transcription	Small Intestine	intestine
8	chr7:99809200-99817600	Weak transcription	Colonic Mucosa	Colon
9	chr7:99809200-99834800	Weak transcription	HSMMtube	muscle
10	chr7:99809400-99817600	Weak transcription	Spleen	Spleen
11	chr7:99809400-99818200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:99809600-99817600	Weak transcription	Dnd41	blood
13	chr7:99809600-99818600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:99810600-99864000	Weak transcription	Right Atrium	heart
15	chr7:99811200-99818200	Weak transcription	Adipose Nuclei	Adipose
16	chr7:99811400-99817600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:99811400-99828600	Weak transcription	HepG2	liver
18	chr7:99811600-99819000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:99811600-99823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:99811600-99834800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:99812000-99817600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:99812200-99818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:99812200-99819000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:99812200-99823800	Weak transcription	Stomach Mucosa	stomach
25	chr7:99812400-99839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:99812800-99817600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:99813800-99818400	Weak transcription	Right Ventricle	heart
28	chr7:99813800-99825000	Weak transcription	Psoas Muscle	Psoas
29	chr7:99813800-99829400	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:99813800-99838800	Weak transcription	Fetal Brain Male	brain
31	chr7:99813800-99841200	Weak transcription	Left Ventricle	heart
32	chr7:99813800-99846800	Weak transcription	Ovary	ovary
33	chr7:99814000-99818600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:99814000-99818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:99814000-99818800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:99815000-99828200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:99815200-99818600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:99815200-99828800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:99815400-99818200	Weak transcription	Gastric	stomach
40	chr7:99815400-99818400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:99815400-99818400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:99815400-99818400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:99815400-99819200	Weak transcription	Liver	Liver
44	chr7:99815400-99825600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:99815400-99834800	Weak transcription	A549	lung
46	chr7:99815400-99834800	Weak transcription	Osteobl	bone
47	chr7:99815600-99817600	Enhancers	Primary B cells from cord blood	blood
48	chr7:99815600-99818200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:99815600-99818600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:99815600-99835200	Weak transcription	H1 Cell Line	embryonic stem cell

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