Variant report

Variant	rs1718125
Chromosome Location	chr12:121593019-121593020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121590684..121593729-chr12:121595219..121598462,4	K562	blood:
2	chr12:121592630..121595667-chr12:121601270..121604261,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10849844	0.95[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs10849851	0.82[MEX][hapmap]
rs1653583	0.92[TSI][hapmap]
rs1718162	0.84[TSI][hapmap]
rs208288	0.92[TSI][hapmap]
rs208290	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs208293	0.85[CHB][hapmap]
rs208294	0.81[CHB][hapmap]
rs489793	0.93[ASN][1000 genomes]
rs535557	0.92[TSI][hapmap]
rs568531	0.92[TSI][hapmap]
rs594423	0.81[TSI][hapmap]
rs607094	0.92[TSI][hapmap]
rs669547	0.92[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1718125	P2RX7	cis	lymphoblastoid	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571400-121594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
3	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:121577000-121593400	Weak transcription	Primary T cells from cord blood	blood
6	chr12:121582000-121594000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:121582200-121593200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:121583000-121595200	Weak transcription	Adipose Nuclei	Adipose
9	chr12:121583000-121613200	Weak transcription	Primary B cells from cord blood	blood
10	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:121583200-121593600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:121583200-121593800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:121583200-121594000	Weak transcription	Brain Angular Gyrus	brain
14	chr12:121583200-121594200	Weak transcription	Lung	lung
15	chr12:121583200-121595800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:121583600-121599600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:121583800-121600400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:121583800-121602000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:121583800-121603200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:121584000-121595000	Weak transcription	Esophagus	oesophagus
23	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:121586800-121594200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:121590800-121595800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:121591800-121595000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:121591800-121595600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:121592000-121599000	Strong transcription	Ovary	ovary
30	chr12:121592200-121593400	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:121592200-121595200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:121592200-121596400	Strong transcription	Brain Substantia Nigra	brain
33	chr12:121592400-121594000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:121592400-121594200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:121592400-121594200	Genic enhancers	Brain Inferior Temporal Lobe	brain
36	chr12:121592400-121594400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:121592400-121595400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:121592400-121595600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:121592400-121595800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:121592400-121595800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:121592600-121596400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:121592600-121596400	Strong transcription	Liver	Liver
43	chr12:121592800-121593600	Weak transcription	Spleen	Spleen
44	chr12:121592800-121594000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:121593000-121593400	Genic enhancers	Brain Hippocampus Middle	brain
46	chr12:121593000-121594200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:121593000-121594200	Enhancers	Cortex derived primary cultured neurospheres	brain

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