Variant report

Variant	rs111312383
Chromosome Location	chr7:99905325-99905326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB33	chr7:99905259-99905557	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:99904716-99905652	GM12878	blood:	n/a	n/a
3	IRF4	chr7:99904902-99905329	GM12878	blood:	n/a	n/a
4	POU2F2	chr7:99904860-99905552	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SPDYE3	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	esv1815812	chr7:99874387-99930879	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv1803899	chr7:99875357-99930879	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	esv1844700	chr7:99900098-99922335	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv1802263	chr7:99900098-99931667	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
22	esv1832874	chr7:99900098-99931667	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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
26	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
27	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
28	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
29	esv1811927	chr7:99904607-99922335	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
30	esv1809006	chr7:99904607-99928168	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
31	nsv981559	chr7:99904859-99919241	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
32	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

mRNA abundance (count:43)

SNP	Gene	Cis/trans	Tissue	Source
rs111312383	PILRB	cis	Esophagus Mucosa	GTEx
rs111312383	PILRB	cis	Esophagus Muscularis	GTEx
rs111312383	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs111312383	PILRA	cis	Nerve Tibial	GTEx
rs111312383	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs111312383	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs111312383	PILRB	cis	lung	GTEx
rs111312383	PILRB	cis	Nerve Tibial	GTEx
rs111312383	PVRIG2P	cis	Esophagus Muscularis	GTEx
rs111312383	PILRB	cis	Adipose Subcutaneous	GTEx
rs111312383	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs111312383	PVRIG2P	cis	lung	GTEx
rs111312383	PILRA	cis	Muscle Skeletal	GTEx
rs111312383	PILRA	cis	Artery Tibial	GTEx
rs111312383	STAG3L5P	cis	lung	GTEx
rs111312383	STAG3L5P	cis	Nerve Tibial	GTEx
rs111312383	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs111312383	STAG3L5P	cis	Stomach	GTEx
rs111312383	PILRB	cis	Artery Tibial	GTEx
rs111312383	PILRA	cis	Adipose Subcutaneous	GTEx
rs111312383	PVRIG2P	cis	Artery Tibial	GTEx
rs111312383	PILRA	cis	Heart Left Ventricle	GTEx
rs111312383	PILRA	cis	Stomach	GTEx
rs111312383	PVRIG2P	cis	Nerve Tibial	GTEx
rs111312383	STAG3L5P	cis	Muscle Skeletal	GTEx
rs111312383	STAG3L5P	cis	Thyroid	GTEx
rs111312383	PILRB	cis	Heart Left Ventricle	GTEx
rs111312383	PILRB	cis	Muscle Skeletal	GTEx
rs111312383	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs111312383	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs111312383	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs111312383	PMS2P1	cis	Esophagus Mucosa	GTEx
rs111312383	PVRIG2P	cis	Heart Left Ventricle	GTEx
rs111312383	PILRA	cis	Artery Aorta	GTEx
rs111312383	PILRA	cis	Esophagus Mucosa	GTEx
rs111312383	STAG3L5P	cis	Artery Tibial	GTEx
rs111312383	STAG3L5P	cis	Artery Aorta	GTEx
rs111312383	PILRB	cis	Whole Blood	GTEx
rs111312383	PILRB	cis	Thyroid	GTEx
rs111312383	PILRA	cis	Esophagus Muscularis	GTEx
rs111312383	PILRA	cis	Thyroid	GTEx
rs111312383	PVRIG2P	cis	Thyroid	GTEx
rs111312383	PVRIG2P	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99870200-99916800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:99870200-99932800	Weak transcription	Ovary	ovary
3	chr7:99870400-99917000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:99870400-99917000	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:99870400-99917600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:99870400-99923400	Weak transcription	Fetal Intestine Large	intestine
7	chr7:99870400-99932600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:99870600-99916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:99870600-99923400	Weak transcription	Spleen	Spleen
10	chr7:99870600-99926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:99870600-99932800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:99871000-99917000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:99871000-99923000	Weak transcription	Brain Germinal Matrix	brain
14	chr7:99874400-99932800	Weak transcription	Brain Angular Gyrus	brain
15	chr7:99880400-99917800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:99884400-99916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:99887400-99932800	Weak transcription	Brain Anterior Caudate	brain
18	chr7:99889400-99915000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:99890200-99914200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:99890400-99917000	Weak transcription	Fetal Brain Female	brain
21	chr7:99893600-99914200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:99893600-99917000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:99893600-99917800	Weak transcription	Lung	lung
24	chr7:99893600-99918000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:99896400-99917000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:99896600-99924600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:99896600-99931800	Weak transcription	K562	blood
28	chr7:99897600-99933200	Weak transcription	Pancreas	Pancrea
29	chr7:99898000-99932800	Weak transcription	Brain Substantia Nigra	brain
30	chr7:99901200-99923400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:99902000-99916800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:99902400-99914800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:99902400-99914800	Weak transcription	Fetal Thymus	thymus
34	chr7:99902400-99915000	Weak transcription	Thymus	Thymus
35	chr7:99902800-99932800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:99903000-99916800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:99903200-99916800	Weak transcription	Fetal Intestine Small	intestine
38	chr7:99903400-99914800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:99903800-99918000	Weak transcription	Adipose Nuclei	Adipose
40	chr7:99904600-99905400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:99904600-99905800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:99904600-99905800	Strong transcription	Fetal Stomach	stomach
43	chr7:99905000-99917000	Weak transcription	Dnd41	blood
44	chr7:99905200-99909400	Weak transcription	Primary monocytes fromperipheralblood	blood

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