Variant report

Variant	rs12820281
Chromosome Location	chr12:9891643-9891644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9884042..9890048-chr12:9890384..9897967,9	K562	blood:
2	chr12:9889267..9893240-chr12:9909352..9912451,4	K562	blood:

Variant related genes	Relation type
ENSG00000184293	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10161013	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10492164	0.83[EUR][1000 genomes]
rs10743828	0.94[EUR][1000 genomes]
rs10772093	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772099	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10844656	0.95[EUR][1000 genomes]
rs1134543	0.83[EUR][1000 genomes]
rs11835594	0.97[EUR][1000 genomes]
rs12304982	0.95[EUR][1000 genomes]
rs12824727	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13377908	0.97[EUR][1000 genomes]
rs13377939	0.97[EUR][1000 genomes]
rs16923367	0.83[EUR][1000 genomes]
rs16927874	0.97[EUR][1000 genomes]
rs2080210	0.82[EUR][1000 genomes]
rs2268145	0.97[EUR][1000 genomes]
rs2401387	0.83[EUR][1000 genomes]
rs2401388	0.83[EUR][1000 genomes]
rs3136576	0.82[EUR][1000 genomes]
rs34584384	0.92[EUR][1000 genomes]
rs34633868	0.94[EUR][1000 genomes]
rs35974438	1.00[ASN][1000 genomes]
rs35990903	0.97[EUR][1000 genomes]
rs3922289	0.96[EUR][1000 genomes]
rs4611290	0.83[EUR][1000 genomes]
rs4763296	0.84[EUR][1000 genomes]
rs4763864	0.86[EUR][1000 genomes]
rs55715780	0.83[EUR][1000 genomes]
rs56980650	0.83[EUR][1000 genomes]
rs59016059	0.97[EUR][1000 genomes]
rs59210706	0.83[EUR][1000 genomes]
rs6488120	0.81[EUR][1000 genomes]
rs6488121	0.81[EUR][1000 genomes]
rs6488123	0.81[EUR][1000 genomes]
rs6488176	0.92[EUR][1000 genomes]
rs71447599	0.98[EUR][1000 genomes]
rs71447600	0.97[EUR][1000 genomes]
rs7301386	0.97[EUR][1000 genomes]
rs74062704	0.83[EUR][1000 genomes]
rs74062708	0.87[EUR][1000 genomes]
rs74065337	0.83[EUR][1000 genomes]
rs74065339	0.83[EUR][1000 genomes]
rs74065340	0.83[EUR][1000 genomes]
rs7962964	0.96[EUR][1000 genomes]
rs7964917	0.97[EUR][1000 genomes]
rs7967436	0.81[EUR][1000 genomes]
rs7969022	0.94[EUR][1000 genomes]
rs7976474	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv983235	chr12:9852218-9893776	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12820281	RP11-75L1.2	cis	Whole Blood	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9885000-9892000	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:9885800-9892400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:9886000-9891800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:9886000-9892000	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:9886000-9894600	Enhancers	Primary B cells from cord blood	blood
6	chr12:9887600-9893800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:9889000-9891800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:9889000-9892000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:9889000-9892000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:9889000-9895200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:9889200-9891800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:9889200-9892200	Weak transcription	Thymus	Thymus
13	chr12:9889800-9892800	Weak transcription	Fetal Thymus	thymus
14	chr12:9890200-9892200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:9890400-9892600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:9890400-9892800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:9890400-9893800	Weak transcription	Dnd41	blood
18	chr12:9890400-9895200	Weak transcription	Hela-S3	cervix
19	chr12:9890400-9897600	Weak transcription	HUVEC	blood vessel
20	chr12:9890600-9891800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:9890600-9892600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:9890800-9892000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:9891000-9892600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:9891000-9893000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:9891200-9892800	Weak transcription	GM12878-XiMat	blood
26	chr12:9891400-9892600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:9891400-9892600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:9891400-9892800	Weak transcription	Primary T cells from cord blood	blood
29	chr12:9891400-9892800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:9891600-9892000	Enhancers	Placenta	Placenta
31	chr12:9891600-9892600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:9891600-9892800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:9891600-9892800	Active TSS	Adipose Nuclei	Adipose
34	chr12:9891600-9893000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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