Variant report

Variant	rs12362172
Chromosome Location	chr11:46145123-46145124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:46144547-46145181	MCF10A-Er-Src	breast:	n/a	chr11:46144722-46144733
2	JUN	chr11:46144388-46145411	K562	blood:	n/a	n/a
3	CEBPB	chr11:46144992-46145257	A549	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46143224..46145220-chr11:46317344..46319023,2	K562	blood:
2	chr11:46143580..46145236-chr11:46369479..46372129,2	MCF-7	breast:
3	chr11:46125754..46127349-chr11:46143825..46145810,2	MCF-7	breast:
4	chr11:46143507..46145451-chr11:46333298..46335406,2	K562	blood:
5	chr11:46028036..46029889-chr11:46143429..46146254,2	K562	blood:
6	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
7	chr11:46092605..46094562-chr11:46143473..46145813,3	K562	blood:
8	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
9	chr11:46143681..46146343-chr11:46159365..46161019,2	K562	blood:
10	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:

No data

Variant related genes	Relation type
PHF21A	TF binding region
ENSG00000254639	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11038747	0.81[EUR][1000 genomes]
rs11038750	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11038755	0.81[EUR][1000 genomes]
rs11038756	0.81[EUR][1000 genomes]
rs11038757	0.81[EUR][1000 genomes]
rs11038764	0.89[EUR][1000 genomes]
rs11038777	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12363382	1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1490088	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386885	chr11:46140826-46145624	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46141800-46148800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:46144200-46148400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:46144200-46148400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:46144200-46148400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:46144200-46148800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:46144400-46145200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:46144400-46145200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:46144400-46145200	Flanking Active TSS	Dnd41	blood
9	chr11:46144400-46145200	Enhancers	HMEC	breast
10	chr11:46144400-46145200	Enhancers	HSMMtube	muscle
11	chr11:46144400-46145200	Enhancers	Osteobl	bone
12	chr11:46144400-46145400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:46144400-46145400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:46144400-46145800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:46144400-46146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:46144400-46148400	Weak transcription	Primary T cells from cord blood	blood
17	chr11:46144400-46148400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:46144400-46148400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:46144400-46148400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:46144400-46148400	Weak transcription	GM12878-XiMat	blood
21	chr11:46144400-46148600	Weak transcription	NHLF	lung
22	chr11:46144400-46148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:46144400-46148800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr11:46144400-46148800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:46144400-46152000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:46144600-46145200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:46144600-46145200	Flanking Active TSS	A549	lung
28	chr11:46144600-46145200	Enhancers	HepG2	liver
29	chr11:46144600-46145400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:46144600-46145400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:46144600-46146400	Weak transcription	Primary B cells from cord blood	blood
32	chr11:46144800-46145200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:46144800-46145200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:46144800-46145200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:46144800-46145200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:46144800-46145200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:46144800-46145200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:46144800-46145200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:46144800-46145200	Enhancers	Hela-S3	cervix
40	chr11:46144800-46145200	Enhancers	HUVEC	blood vessel
41	chr11:46144800-46145200	Enhancers	NHDF-Ad	bronchial
42	chr11:46144800-46145400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr11:46144800-46148000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:46144800-46148200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:46144800-46148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:46144800-46148400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:46144800-46148400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:46144800-46148400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr11:46144800-46148600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:46144800-46148600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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