Variant report

Variant	rs11054666
Chromosome Location	chr12:12223842-12223843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:12223677-12224011	GM12878	blood:	n/a	chr12:12223843-12223856
2	SPI1	chr12:12223629-12224013	HL-60	blood:	n/a	chr12:12223843-12223856
3	SPI1	chr12:12223764-12224064	HL-60	blood:	n/a	chr12:12223843-12223856
4	RAD21	chr12:12223838-12224315	ECC-1	luminal epithelium:	n/a	chr12:12224076-12224089 chr12:12224073-12224092
5	POLR2A	chr12:12223831-12224699	GM12878	blood:	n/a	n/a
6	FOXA1	chr12:12223509-12223901	HepG2	liver:	n/a	n/a
7	CTCF	chr12:12223805-12224328	MCF-7	breast:	n/a	chr12:12224077-12224087 chr12:12224074-12224095 chr12:12224075-12224088 chr12:12224073-12224089 chr12:12224072-12224090
8	RAD21	chr12:12223828-12224290	H1-hESC	embryonic stem cell:	n/a	chr12:12224076-12224089 chr12:12224073-12224092
9	ELF1	chr12:12223690-12224026	HepG2	liver:	n/a	n/a
10	MTA3	chr12:12223734-12224744	GM12878	blood:	n/a	n/a
11	EP300	chr12:12223586-12223904	HepG2	liver:	n/a	chr12:12223771-12223780
12	SMC3	chr12:12223833-12224203	GM12878	blood:	n/a	chr12:12224078-12224088 chr12:12224074-12224088 chr12:12224077-12224085
13	SPI1	chr12:12223727-12223936	GM12891	blood:	n/a	chr12:12223843-12223856
14	FOXA1	chr12:12223495-12223903	HepG2	liver:	n/a	n/a
15	SPI1	chr12:12223695-12223980	GM12891	blood:	n/a	chr12:12223843-12223856
16	SPI1	chr12:12223738-12223933	GM12878	blood:	n/a	chr12:12223843-12223856
17	FOXA1	chr12:12223475-12223872	HepG2	liver:	n/a	n/a
18	CTCF	chr12:12223802-12224281	HCT-116	colon:	n/a	chr12:12224077-12224087 chr12:12224074-12224095 chr12:12224075-12224088 chr12:12224073-12224089 chr12:12224072-12224090
19	SPI1	chr12:12223777-12223929	K562	blood:	n/a	chr12:12223843-12223856

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:12223841-12223891	HEK293	kidney:	embryo
2	chr12:12223841-12223891	IMR90	lung:	fetal
3	chr12:12223841-12223891	ProgFib	skin:	n/a
4	chr12:12223841-12223891	GM19239	blood:	n/a
5	chr12:12223841-12223891	AG09309	skin:	n/a
6	chr12:12223841-12223891	ovcar-3	ovarian:	n/a
7	chr12:12223841-12223891	A549	lung:	n/a
8	chr12:12223841-12223891	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:12223841-12223891	T-47D	breast:	n/a
10	chr12:12223841-12223891	Caco-2	colon:	n/a
11	chr12:12223841-12223891	NT2-D1	testis:	n/a
12	chr12:12223841-12223891	HRCEpiC	kidney:	n/a
13	chr12:12223841-12223891	HepG2	liver:	n/a
14	chr12:12223841-12223891	SK-N-SH	brain:	n/a
15	chr12:12223841-12223891	HMEC	breast:	n/a
16	chr12:12223841-12223891	SKMC	muscle:	n/a
17	chr12:12223841-12223891	HCF	heart:	n/a
18	chr12:12223841-12223891	Hepatocyte	liver:	n/a
19	chr12:12223841-12223891	HEEpiC	esophagus:	n/a
20	chr12:12223841-12223891	ECC-1	luminal epithelium:	n/a
21	chr12:12223841-12223891	AG04449	skin:	fetal
22	chr12:12223841-12223891	GM12878	blood:	n/a
23	chr12:12223841-12223891	HIPEpiC	eye:	n/a
24	chr12:12223841-12223891	SAEC	small airway:	n/a
25	chr12:12223841-12223891	PrEC	prostate:	n/a
26	chr12:12223841-12223891	GM12892	blood:	n/a
27	chr12:12223841-12223891	U87	brain:	n/a
28	chr12:12223841-12223891	LNCaP	prostate:	n/a
29	chr12:12223841-12223891	MCF10A-Er-Src	breast:	n/a
30	chr12:12223841-12223891	AoSMC	blood vessel:	n/a
31	chr12:12223841-12223891	RPTEC	kidney:	n/a
32	chr12:12223841-12223891	HCM	heart:	n/a
33	chr12:12223841-12223891	NB4	blood:	n/a
34	chr12:12223841-12223891	AG09319	gingival:	n/a
35	chr12:12223841-12223891	BJ	skin:	n/a
36	chr12:12223841-12223891	HRE	kidney:	n/a
37	chr12:12223841-12223891	GM12891	blood:	n/a
38	chr12:12223841-12223891	AG10803	skin:	n/a
39	chr12:12223841-12223891	H1-hESC	embryonic stem cell:	embryo
40	chr12:12223841-12223891	GM06990	blood:	n/a
41	chr12:12223841-12223891	BE2_C	brain:	n/a
42	chr12:12223841-12223891	CMK	blood:	n/a
43	chr12:12223841-12223891	PANC-1	pancreas:	n/a
44	chr12:12223841-12223891	HAEpiC	amniotic membrane:	n/a
45	chr12:12223841-12223891	Jurkat	blood:	n/a
46	chr12:12223841-12223891	HRPEpiC	eye:	n/a
47	chr12:12223841-12223891	MCF-7	breast:	n/a
48	chr12:12223841-12223891	HUVEC	blood vessel:	n/a
49	chr12:12223841-12223891	K562	blood:	n/a
50	chr12:12223841-12223891	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12223594..12226384-chr12:12419195..12421286,2	MCF-7	breast:
2	chr12:12222045..12224389-chr12:12502260..12504688,2	K562	blood:

Variant related genes	Relation type
BCL2L14	TF binding region
BCL2L14	CpG island
ENSG00000111261	Chromatin interaction
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11054663	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11054664	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11054665	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1544670	0.87[CEU][hapmap]
rs2430604	0.85[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs2900235	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2909009	0.87[CEU][hapmap]
rs2909010	0.82[EUR][1000 genomes]
rs4622349	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61923180	0.83[AMR][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	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12209600-12224000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:12221200-12224000	Weak transcription	Colonic Mucosa	Colon
3	chr12:12221200-12224000	Weak transcription	Gastric	stomach
4	chr12:12221200-12224000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:12222200-12224200	Weak transcription	Fetal Lung	lung
6	chr12:12223400-12226000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:12223600-12224000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:12223600-12224000	Flanking Active TSS	HepG2	liver
9	chr12:12223600-12224200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:12223600-12224400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:12223600-12224400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr12:12223600-12224400	Active TSS	GM12878-XiMat	blood
13	chr12:12223600-12224800	Active TSS	Duodenum Mucosa	Duodenum
14	chr12:12223600-12226000	Active TSS	Fetal Intestine Large	intestine
15	chr12:12223600-12226000	Active TSS	Fetal Intestine Small	intestine
16	chr12:12223800-12224000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:12223800-12224000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:12223800-12224000	Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr12:12223800-12224000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr12:12223800-12224000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:12223800-12224000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:12223800-12224000	Enhancers	Liver	Liver
23	chr12:12223800-12224200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:12223800-12224200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr12:12223800-12224200	Flanking Active TSS	Stomach Mucosa	stomach
26	chr12:12223800-12224200	Active TSS	NHEK	skin
27	chr12:12223800-12224400	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr12:12223800-12224400	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr12:12223800-12224400	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr12:12223800-12224600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:12223800-12224600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:12223800-12224600	Active TSS	Pancreas	Pancrea
33	chr12:12223800-12224600	Active TSS	Hela-S3	cervix
34	chr12:12223800-12224800	Enhancers	Primary T cells from cord blood	blood
35	chr12:12223800-12224800	Active TSS	Fetal Stomach	stomach
36	chr12:12223800-12225200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr12:12223800-12225200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:12223800-12225200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr12:12223800-12225400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:12223800-12225400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:12223800-12225600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:12223800-12225600	Enhancers	Primary B cells from peripheral blood	blood
43	chr12:12223800-12225600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr12:12223800-12225800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr12:12223800-12226800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:12223800-12226800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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