Variant report

Variant	rs7384878
Chromosome Location	chr7:99932049-99932050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99931792-99932055	GM12878	blood:	n/a	n/a
2	IRF4	chr7:99931616-99932382	GM12878	blood:	n/a	n/a
3	PAX5	chr7:99931612-99932414	GM12878	blood:	n/a	n/a
4	IRF4	chr7:99931731-99932412	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:99931258-99932461	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:99931597-99934357	GM12892	blood:	n/a	n/a
7	PAX5	chr7:99931805-99932122	GM12878	blood:	n/a	n/a
8	POU2F2	chr7:99931709-99932291	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:99931748-99932081	Hela-S3	cervix:	n/a	n/a
10	PAX5	chr7:99931738-99932078	GM12878	blood:	n/a	n/a
11	BCL11A	chr7:99931741-99932177	GM12878	blood:	n/a	n/a
12	EBF1	chr7:99931769-99932106	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:99930333-99934470	GM12878	blood:	n/a	n/a
14	ZBTB33	chr7:99931735-99932139	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:99931693-99932105	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:99931644-99934431	GM12892	blood:	n/a	n/a
17	SP1	chr7:99931715-99932399	GM12878	blood:	n/a	n/a
18	NFIC	chr7:99931949-99932487	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:99931792-99932068	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:99931662-99932463	GM12891	blood:	n/a	n/a
21	SP1	chr7:99931737-99932382	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:99931208-99934463	GM12892	blood:	n/a	n/a
23	POLR2A	chr7:99931603-99934316	GM12891	blood:	n/a	n/a
24	POLR2A	chr7:99932017-99932366	GM12891	blood:	n/a	n/a
25	BCL11A	chr7:99931855-99932416	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:99931612-99934454	GM12891	blood:	n/a	n/a
27	ZBTB33	chr7:99931704-99932055	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:99931603-99932394	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr7:99931649-99932385	GM12892	blood:	n/a	n/a
30	HEY1	chr7:99931658-99932472	K562	blood:	n/a	n/a
31	BATF	chr7:99931763-99932072	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99931911..99935442-chr7:99938364..99941933,5	MCF-7	breast:

No data

Variant related genes	Relation type
PILRB	TF binding region
STAG3L5P-PVRIG2P-PILRB	TF binding region
STAG3L5P	TF binding region
PMS2P1	TF binding region
ENSG00000201913	TF binding region
ENSG00000078319	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2405442	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34919929	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	esv1817757	chr7:99896488-99935709	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv8183	chr7:99896574-99936641	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	esv16361	chr7:99898203-99934029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	esv1823451	chr7:99900098-99932328	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv1797484	chr7:99901968-99932858	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	esv1816915	chr7:99901968-99932858	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	esv1851409	chr7:99901968-99932858	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	esv1830570	chr7:99901968-99945827	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
21	esv1817228	chr7:99904585-99935709	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	nsv970561	chr7:99904859-99936381	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
23	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
24	nsv967348	chr7:99930883-99932817	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7384878	PILRB	cis	Adipose Subcutaneous	GTEx
rs7384878	PVRIG2P	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99870200-99932800	Weak transcription	Ovary	ovary
2	chr7:99870400-99932600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:99870600-99932800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:99874400-99932800	Weak transcription	Brain Angular Gyrus	brain
5	chr7:99887400-99932800	Weak transcription	Brain Anterior Caudate	brain
6	chr7:99897600-99933200	Weak transcription	Pancreas	Pancrea
7	chr7:99898000-99932800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:99902800-99932800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:99911800-99932200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:99912600-99933400	Weak transcription	Fetal Brain Male	brain
11	chr7:99914000-99932800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:99914600-99932800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:99914600-99932800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:99915000-99932800	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:99915200-99932800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:99915400-99932600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:99915400-99932600	Weak transcription	Primary T cells from cord blood	blood
18	chr7:99915400-99932600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:99915600-99932800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:99915600-99932800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:99915600-99933200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:99915600-99933200	Weak transcription	Aorta	Aorta
23	chr7:99915800-99932800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:99915800-99932800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:99915800-99933000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:99915800-99933200	Weak transcription	Left Ventricle	heart
27	chr7:99916000-99932800	Weak transcription	Fetal Kidney	kidney
28	chr7:99916200-99932800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:99916400-99932800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:99916600-99932800	Weak transcription	Right Ventricle	heart
31	chr7:99916600-99932800	Weak transcription	HSMM	muscle
32	chr7:99916800-99932800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:99916800-99932800	Weak transcription	Esophagus	oesophagus
34	chr7:99917000-99932800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:99917400-99932800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:99918600-99932800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:99918600-99932800	Weak transcription	Fetal Brain Female	brain
38	chr7:99918600-99933200	Weak transcription	Lung	lung
39	chr7:99920600-99932800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:99920800-99932800	Weak transcription	HSMMtube	muscle
41	chr7:99922000-99932800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:99922000-99932800	Weak transcription	Gastric	stomach
43	chr7:99922000-99932800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:99922800-99932800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:99923200-99932800	Weak transcription	Colonic Mucosa	Colon
46	chr7:99923800-99932200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:99924400-99932800	Weak transcription	Brain Germinal Matrix	brain
48	chr7:99924800-99933200	Weak transcription	Spleen	Spleen
49	chr7:99925000-99932600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:99925000-99932800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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