Variant report

Variant	rs34722118
Chromosome Location	chr12:75783153-75783154
allele	A/G
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	EP300	chr12:75782816-75783288	SK-N-SH_RA	brain:	n/a	n/a
2	JUND	chr12:75782646-75783280	Hela-S3	cervix:	n/a	n/a
3	FOS	chr12:75782896-75783335	MCF10A-Er-Src	breast:	n/a	chr12:75783015-75783026
4	FOS	chr12:75782792-75783918	MCF10A-Er-Src	breast:	n/a	chr12:75783015-75783026
5	TCF12	chr12:75782560-75783646	SK-N-SH	brain:	n/a	n/a
6	TEAD4	chr12:75782668-75783560	SK-N-SH	brain:	n/a	n/a
7	FOSL2	chr12:75782670-75783480	SK-N-SH	brain:	n/a	n/a
8	WRNIP1	chr12:75783057-75783307	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:75782908-75783313	SK-N-SH	brain:	n/a	n/a
10	JUND	chr12:75782626-75783493	HCT-116	colon:	n/a	n/a
11	EP300	chr12:75782667-75783550	SK-N-SH	brain:	n/a	chr12:75782752-75782761 chr12:75783503-75783517
12	EP300	chr12:75782819-75783273	SK-N-SH_RA	brain:	n/a	n/a
13	SP1	chr12:75782541-75783817	HCT-116	colon:	n/a	n/a
14	TEAD4	chr12:75782651-75783452	SK-N-SH	brain:	n/a	n/a
15	FOSL1	chr12:75782697-75783379	HCT-116	colon:	n/a	n/a
16	TAF1	chr12:75782941-75783243	SK-N-SH	brain:	n/a	n/a
17	CBX3	chr12:75782763-75783462	HCT-116	colon:	n/a	n/a
18	FOSL2	chr12:75782796-75783386	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr12:75783085-75783267	Hela-S3	cervix:	n/a	n/a
20	GATA3	chr12:75782702-75783505	SK-N-SH	brain:	n/a	n/a
21	STAT3	chr12:75783002-75783194	MCF10A-Er-Src	breast:	n/a	n/a
22	SP1	chr12:75782703-75783442	HCT-116	colon:	n/a	n/a
23	POLR2A	chr12:75782783-75783350	SK-N-SH	brain:	n/a	n/a
24	EP300	chr12:75782535-75784131	SK-N-SH	brain:	n/a	chr12:75782752-75782761 chr12:75783503-75783517 chr12:75784067-75784081
25	MEF2A	chr12:75782624-75783366	SK-N-SH	brain:	n/a	chr12:75782975-75782990 chr12:75782978-75782987 chr12:75782975-75782991
26	JUND	chr12:75782181-75783826	SK-N-SH	brain:	n/a	n/a
27	FOSL1	chr12:75782601-75783487	HCT-116	colon:	n/a	n/a
28	JUND	chr12:75782641-75783450	SK-N-SH	brain:	n/a	n/a
29	TCF12	chr12:75782547-75783579	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr12:75782679-75783544	SK-N-SH	brain:	n/a	n/a
31	MEF2A	chr12:75782599-75783390	SK-N-SH	brain:	n/a	chr12:75782975-75782990 chr12:75782978-75782987 chr12:75782975-75782991
32	MYC	chr12:75783004-75783204	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr12:75783004-75783691	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr12:75782834-75783329	HUVEC	blood vessel:	n/a	chr12:75783015-75783026
35	STAT3	chr12:75782990-75783244	MCF10A-Er-Src	breast:	n/a	n/a
36	EP300	chr12:75782629-75783536	SK-N-SH	brain:	n/a	chr12:75782752-75782761 chr12:75783503-75783517
37	JUND	chr12:75782676-75783520	SK-N-SH	brain:	n/a	n/a
38	NFIC	chr12:75782582-75783443	SK-N-SH	brain:	n/a	n/a
39	MAX	chr12:75782858-75783390	SK-N-SH	brain:	n/a	n/a
40	SIN3AK20	chr12:75782897-75783291	SK-N-SH	brain:	n/a	n/a
41	MAZ	chr12:75783091-75783291	Hela-S3	cervix:	n/a	n/a
42	PBX3	chr12:75782640-75783495	SK-N-SH	brain:	n/a	n/a
43	PBX3	chr12:75782726-75783448	SK-N-SH	brain:	n/a	n/a
44	FOS	chr12:75782895-75783186	MCF10A-Er-Src	breast:	n/a	chr12:75783015-75783026
45	YY1	chr12:75782918-75783190	HCT-116	colon:	n/a	n/a
46	JUND	chr12:75782508-75783557	HCT-116	colon:	n/a	n/a
47	POLR2A	chr12:75782886-75783542	HCT-116	colon:	n/a	n/a
48	FOS	chr12:75782839-75783204	MCF10A-Er-Src	breast:	n/a	chr12:75783015-75783026
49	MAFK	chr12:75782927-75783270	IMR90	lung:	n/a	n/a
50	TEAD4	chr12:75782953-75783270	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
GLIPR1L2	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10506669	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180480	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11180499	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11609405	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11609538	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11610755	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611121	0.80[ASN][1000 genomes]
rs11612665	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11614719	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616068	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11829445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829975	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12423320	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423560	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12423750	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424262	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424458	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424779	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425122	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12580524	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12810889	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12811343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813336	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12814435	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12817746	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12818326	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12821144	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12822366	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12822505	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12822654	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12833944	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1909977	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2134140	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2202105	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34120363	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34508642	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34522427	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34904271	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35124104	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35244242	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35351465	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35505142	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35575314	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35773117	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35968211	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35986906	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36113316	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4019356	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4420306	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4760596	0.80[ASN][1000 genomes]
rs4882626	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55742134	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55783970	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61932178	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61932179	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61932180	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61932935	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66864793	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489329	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961005	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899312	chr12:75692261-75790817	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription 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 miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34722118	GLIPR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75754000-75784200	Weak transcription	Right Ventricle	heart
2	chr12:75757200-75783400	Weak transcription	Ovary	ovary
3	chr12:75763400-75784400	Weak transcription	Left Ventricle	heart
4	chr12:75772200-75785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:75776600-75784800	Weak transcription	Gastric	stomach
6	chr12:75781000-75783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:75782200-75784200	Enhancers	Hela-S3	cervix
8	chr12:75782400-75783200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:75782400-75783200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:75782400-75783200	Enhancers	Brain Angular Gyrus	brain
11	chr12:75782400-75783200	Enhancers	Colon Smooth Muscle	Colon
12	chr12:75782400-75783200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:75782400-75783200	Enhancers	NHDF-Ad	bronchial
14	chr12:75782400-75783400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:75782400-75783400	Enhancers	Brain Cingulate Gyrus	brain
16	chr12:75782400-75783400	Enhancers	Psoas Muscle	Psoas
17	chr12:75782400-75783400	Enhancers	HMEC	breast
18	chr12:75782400-75783600	Enhancers	Brain Anterior Caudate	brain
19	chr12:75782400-75783800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:75782400-75784000	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:75782400-75784200	Enhancers	HUVEC	blood vessel
22	chr12:75782400-75784400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:75782600-75783200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:75782600-75783200	Enhancers	Dnd41	blood
25	chr12:75782600-75783400	Enhancers	Osteobl	bone
26	chr12:75782600-75783600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:75782600-75784000	Enhancers	NH-A	brain
28	chr12:75782600-75784200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:75782600-75784200	Enhancers	NHEK	skin
30	chr12:75782600-75784600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:75782600-75784800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:75782600-75785600	Active TSS	Aorta	Aorta
33	chr12:75782800-75783200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:75782800-75783200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:75782800-75783200	Enhancers	A549	lung
36	chr12:75782800-75783400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:75782800-75783400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:75782800-75783600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:75782800-75783600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:75782800-75783800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:75782800-75783800	Flanking Active TSS	GM12878-XiMat	blood
42	chr12:75782800-75784000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr12:75782800-75784200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr12:75782800-75784400	Enhancers	Primary B cells from peripheral blood	blood
45	chr12:75782800-75784600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:75782800-75786200	Active TSS	Rectal Smooth Muscle	rectum
47	chr12:75783000-75783200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:75783000-75783200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:75783000-75783200	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:75783000-75783200	Enhancers	Rectal Mucosa Donor 31	rectum

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