Variant report

Variant	rs1797659
Chromosome Location	chr12:12186453-12186454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11733604..11734914-chr12:12185954..12186789,5	MCF-7	breast:
2	chr12:11706600..11707499-chr12:12186007..12186739,3	MCF-7	breast:
3	chr12:11706649..11707171-chr12:12186026..12186950,3	K562	blood:
4	chr12:12185994..12186506-chr12:12480467..12481001,2	K562	blood:
5	chr12:11733817..11734824-chr12:12186030..12186961,8	K562	blood:
6	chr12:12185974..12186612-chr12:12857331..12858218,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10845454	0.84[ASN][1000 genomes]
rs10845455	0.84[ASN][1000 genomes]
rs10845456	0.84[ASN][1000 genomes]
rs10845457	0.84[ASN][1000 genomes]
rs11054624	0.87[ASN][1000 genomes]
rs11054627	0.81[ASN][1000 genomes]
rs1641725	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1797658	0.98[ASN][1000 genomes]
rs2430594	0.83[EUR][1000 genomes]
rs2448061	0.91[EUR][1000 genomes]
rs7132345	0.87[ASN][1000 genomes]
rs7970394	0.80[ASN][1000 genomes]
rs7976189	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1797659	C3AR1	cis	cerebellum	SCAN
rs1797659	CLEC2B	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12185200-12186600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:12185400-12186600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:12185600-12186600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr12:12185600-12186600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:12185600-12186600	Active TSS	Rectal Smooth Muscle	rectum
6	chr12:12185800-12186600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr12:12185800-12186600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr12:12185800-12186800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr12:12186000-12186600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:12186000-12186600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:12186000-12186600	Active TSS	Brain Cingulate Gyrus	brain
12	chr12:12186000-12200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:12186200-12186600	Active TSS	Fetal Intestine Large	intestine
14	chr12:12186400-12186600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:12186400-12186600	Active TSS	Primary monocytes fromperipheralblood	blood
16	chr12:12186400-12186600	Active TSS	Primary hematopoietic stem cells	blood
17	chr12:12186400-12186600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:12186400-12186600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:12186400-12186600	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr12:12186400-12186600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:12186400-12186600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:12186400-12186600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr12:12186400-12186600	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr12:12186400-12186600	Active TSS	Adipose Nuclei	Adipose
25	chr12:12186400-12186600	Enhancers	Aorta	Aorta
26	chr12:12186400-12186600	Active TSS	Fetal Muscle Trunk	muscle
27	chr12:12186400-12186600	Active TSS	Fetal Muscle Leg	muscle
28	chr12:12186400-12186600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:12186400-12186600	Active TSS	Stomach Smooth Muscle	stomach
30	chr12:12186400-12186600	Active TSS	Thymus	Thymus
31	chr12:12186400-12186600	Active TSS	GM12878-XiMat	blood
32	chr12:12186400-12186600	Active TSS	HUVEC	blood vessel
33	chr12:12186400-12186600	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:12186400-12186600	Active TSS	NHEK	skin
35	chr12:12186400-12186600	Active TSS	Osteobl	bone
36	chr12:12186400-12186800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:12186400-12186800	Enhancers	Brain Angular Gyrus	brain
38	chr12:12186400-12186800	Enhancers	Fetal Brain Male	brain
39	chr12:12186400-12188400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:12186400-12188400	Weak transcription	Stomach Mucosa	stomach
41	chr12:12186400-12192800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:12186400-12192800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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