Variant report

Variant	rs3136564
Chromosome Location	chr12:9911736-9911737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9803491..9806822-chr12:9909601..9912697,3	K562	blood:
2	chr12:9911685..9913849-chr12:10017850..10019855,2	K562	blood:
3	chr12:9889267..9893240-chr12:9909352..9912451,4	K562	blood:
4	chr12:9909977..9913009-chr12:10364990..10367233,3	K562	blood:
5	chr12:9910429..9912074-chr12:9961751..9963956,2	K562	blood:

Variant related genes	Relation type
ENSG00000255882	Chromatin interaction
ENSG00000139112	Chromatin interaction
ENSG00000256594	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12301123	0.83[ASN][1000 genomes]
rs12368445	0.83[ASN][1000 genomes]
rs3136572	0.86[AMR][1000 genomes]
rs3136577	0.83[ASN][1000 genomes]
rs3176804	0.83[ASN][1000 genomes]
rs3176807	0.83[ASN][1000 genomes]
rs3176808	0.83[ASN][1000 genomes]
rs34279883	0.83[ASN][1000 genomes]
rs35494990	0.83[ASN][1000 genomes]
rs7972330	0.83[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:9904400-9913200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:9904600-9913400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr12:9905600-9913400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:9909000-9914800	Active TSS	Thymus	Thymus
6	chr12:9909600-9913400	Active TSS	Fetal Thymus	thymus
7	chr12:9909600-9914200	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr12:9909800-9914000	Active TSS	K562	blood
9	chr12:9909800-9914400	Active TSS	Primary T cells fromperipheralblood	blood
10	chr12:9910200-9914200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr12:9910400-9913600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:9910400-9914000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr12:9910400-9914400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:9910400-9914400	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr12:9910600-9912200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:9910600-9912800	Active TSS	Dnd41	blood
17	chr12:9910600-9913600	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:9910600-9913600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr12:9910600-9914400	Active TSS	Primary T cells from cord blood	blood
20	chr12:9910600-9914400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:9910800-9912000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr12:9910800-9913400	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr12:9911000-9912000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr12:9911000-9912000	Active TSS	Adipose Nuclei	Adipose
25	chr12:9911000-9912400	Active TSS	Brain Hippocampus Middle	brain
26	chr12:9911000-9913800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:9911000-9914000	Active TSS	Duodenum Mucosa	Duodenum
28	chr12:9911200-9912000	Active TSS	Right Atrium	heart
29	chr12:9911200-9913000	Active TSS	Small Intestine	intestine
30	chr12:9911200-9913600	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr12:9911200-9913600	Active TSS	Rectal Smooth Muscle	rectum
32	chr12:9911200-9913600	Active TSS	GM12878-XiMat	blood
33	chr12:9911400-9913400	Active TSS	Primary B cells from cord blood	blood
34	chr12:9911400-9913600	Active TSS	Primary B cells from peripheral blood	blood
35	chr12:9911400-9913600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:9911400-9913600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:9911600-9911800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:9911600-9911800	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr12:9911600-9912200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:9911600-9912400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:9911600-9913400	Active TSS	Primary hematopoietic stem cells	blood
42	chr12:9911600-9913400	Weak transcription	Placenta	Placenta

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