Variant report

Variant	rs12281324
Chromosome Location	chr11:64863439-64863440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:525)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr11:64863235-64864261	GM12878	blood:	n/a	chr11:64863657-64863666
2	POLR2A	chr11:64863273-64864359	HL-60	blood:	n/a	n/a
3	TEAD4	chr11:64863317-64863842	A549	lung:	n/a	n/a
4	TCF12	chr11:64863118-64864310	A549	lung:	n/a	chr11:64863564-64863571 chr11:64863596-64863606
5	SIN3AK20	chr11:64863169-64864413	MCF-7	breast:	n/a	n/a
6	EBF1	chr11:64863430-64863767	GM12878	blood:	n/a	n/a
7	STAT5A	chr11:64863068-64864222	GM12878	blood:	n/a	n/a
8	EP300	chr11:64863403-64863876	T-47D	breast:	n/a	chr11:64863658-64863665
9	REST	chr11:64863285-64863803	A549	lung:	n/a	chr11:64863468-64863477
10	REST	chr11:64863400-64863810	SK-N-SH	brain:	n/a	chr11:64863468-64863477
11	TAF1	chr11:64863362-64864400	K562	blood:	n/a	n/a
12	FOXA1	chr11:64863435-64864126	T-47D	breast:	n/a	n/a
13	RFX5	chr11:64863397-64864281	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr11:64863343-64863950	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZBTB7A	chr11:64863401-64863962	K562	blood:	n/a	n/a
16	ELF1	chr11:64863264-64864279	HepG2	liver:	n/a	chr11:64863655-64863666 chr11:64863655-64863666 chr11:64863656-64863665
17	YY1	chr11:64863366-64864248	K562	blood:	n/a	n/a
18	NR2F2	chr11:64863388-64863800	K562	blood:	n/a	n/a
19	HCFC1	chr11:64863241-64864224	K562	blood:	n/a	n/a
20	POLR2A	chr11:64863381-64864313	NB4	blood:	n/a	n/a
21	EP300	chr11:64863418-64863842	GM12878	blood:	n/a	chr11:64863658-64863665
22	USF1	chr11:64863322-64863841	A549	lung:	n/a	n/a
23	ESRRA	chr11:64863042-64864438	GM12878	blood:	n/a	n/a
24	TAF1	chr11:64863351-64864384	K562	blood:	n/a	n/a
25	GABPA	chr11:64863332-64864236	HepG2	liver:	n/a	n/a
26	MAZ	chr11:64863394-64864249	Hela-S3	cervix:	n/a	n/a
27	ZNF143	chr11:64863398-64863785	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:64863311-64864281	HepG2	liver:	n/a	n/a
29	GTF2F1	chr11:64863427-64863841	K562	blood:	n/a	n/a
30	SPI1	chr11:64863343-64863824	HL-60	blood:	n/a	n/a
31	SIX5	chr11:64863366-64863791	H1-hESC	embryonic stem cell:	n/a	n/a
32	SRF	chr11:64863433-64863739	GM12878	blood:	n/a	n/a
33	PML	chr11:64863356-64863875	MCF-7	breast:	n/a	n/a
34	MXI1	chr11:64863434-64864334	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:64863314-64864302	HUVEC	blood vessel:	n/a	n/a
36	SIN3A	chr11:64863378-64864389	H1-hESC	embryonic stem cell:	n/a	n/a
37	REST	chr11:64863302-64864630	H1-neurons	neurons:	n/a	chr11:64863468-64863477
38	TAF1	chr11:64863164-64864349	A549	lung:	n/a	n/a
39	MAFK	chr11:64863324-64863777	K562	blood:	n/a	n/a
40	KAP1	chr11:64863271-64863859	HEK293	kidney:	n/a	n/a
41	POU2F2	chr11:64863293-64863896	GM12891	blood:	n/a	n/a
42	TCF12	chr11:64863387-64864224	GM12878	blood:	n/a	chr11:64863564-64863571 chr11:64863596-64863606
43	POLR2A	chr11:64863308-64864341	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr11:64863439-64863786	Hela-S3	cervix:	n/a	n/a
45	JUN	chr11:64863292-64864371	K562	blood:	n/a	n/a
46	RFX5	chr11:64863439-64863765	GM12878	blood:	n/a	n/a
47	MXI1	chr11:64863379-64864379	HepG2	liver:	n/a	n/a
48	FOSL2	chr11:64863344-64863892	A549	lung:	n/a	n/a
49	ZC3H11A	chr11:64863373-64863883	K562	blood:	n/a	n/a
50	ZEB1	chr11:64863415-64864180	GM12878	blood:	n/a	chr11:64863613-64863624

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64570549..64572322-chr11:64863262..64865763,3	MCF-7	breast:
2	chr11:64575827..64578000-chr11:64862581..64864116,2	MCF-7	breast:
3	chr11:64824794..64827759-chr11:64862563..64864224,2	K562	blood:
4	chr11:64863039..64863728-chr20:3826937..3827927,2	Hela-S3	cervix:
5	chr11:64862263..64865019-chr11:64949588..64952291,3	MCF-7	breast:
6	chr11:64780460..64784208-chr11:64862018..64864261,3	K562	blood:
7	chr11:64793758..64795371-chr11:64862909..64865149,3	MCF-7	breast:
8	chr11:64793292..64796781-chr11:64862367..64865846,4	K562	blood:
9	chr11:64569782..64572996-chr11:64862581..64865602,3	K562	blood:
10	chr11:64779932..64783276-chr11:64862331..64864399,5	MCF-7	breast:
11	chr11:64793819..64796993-chr11:64862794..64865846,5	K562	blood:
12	chr11:64576171..64577723-chr11:64862076..64864816,2	K562	blood:
13	chr11:64779913..64786139-chr11:64862018..64866625,10	K562	blood:
14	chr11:64862442..64864191-chr11:64887487..64890619,3	K562	blood:
15	chr11:64779401..64787584-chr11:64862745..64867550,9	MCF-7	breast:
16	chr11:64607780..64614825-chr11:64861884..64865172,9	MCF-7	breast:
17	chr11:64806669..64810557-chr11:64862016..64868359,8	K562	blood:
18	chr11:64806772..64810496-chr11:64862454..64866792,5	K562	blood:
19	chr11:64862541..64864167-chr11:65101190..65102852,2	MCF-7	breast:
20	chr11:64806644..64812839-chr11:64862132..64865938,9	MCF-7	breast:
21	chr11:64860579..64868255-chr11:64873377..64881831,25	K562	blood:
22	chr11:64862526..64865749-chr11:64882167..64886670,6	K562	blood:
23	chr11:64805658..64811611-chr11:64862545..64865451,9	MCF-7	breast:
24	chr11:64862784..64865189-chr11:65028595..65030936,2	K562	blood:
25	chr11:64646046..64648742-chr11:64862657..64865181,3	K562	blood:

No data

Variant related genes	Relation type
VPS51	TF binding region
ENSG00000273003	Chromatin interaction
ENSG00000088888	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000168061	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11227112	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11539360	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11546366	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12099121	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270532	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12271615	0.81[YRI][hapmap]
rs12281698	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288247	0.90[YRI][hapmap]
rs12295393	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276021	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs3782095	0.90[YRI][hapmap]
rs61736623	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936473	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
5	nsv897712	chr11:64856695-64882789	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64852400-64863600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64852600-64863600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:64855600-64863600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:64856800-64863600	Weak transcription	Aorta	Aorta
5	chr11:64857400-64863600	Weak transcription	Ovary	ovary
6	chr11:64863000-64863600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:64863000-64863600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:64863000-64863600	Enhancers	Spleen	Spleen
9	chr11:64863000-64863600	Flanking Active TSS	Dnd41	blood
10	chr11:64863000-64864400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:64863000-64865200	Enhancers	Fetal Heart	heart
12	chr11:64863200-64863600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr11:64863200-64863600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:64863200-64863600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:64863200-64863600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:64863200-64863600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:64863200-64863600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:64863200-64863600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:64863200-64863600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:64863200-64863600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr11:64863200-64863600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:64863200-64863600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:64863200-64863600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr11:64863200-64863600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:64863200-64863600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:64863200-64863600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr11:64863200-64863600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr11:64863200-64863600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:64863200-64863600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:64863200-64863600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:64863200-64863600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr11:64863200-64863600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr11:64863200-64863600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:64863200-64863600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:64863200-64863600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:64863200-64863600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:64863200-64863600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr11:64863200-64863600	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr11:64863200-64863600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr11:64863200-64863600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr11:64863200-64863600	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr11:64863200-64863600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr11:64863200-64863600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr11:64863200-64863600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:64863200-64863600	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr11:64863200-64863600	Flanking Active TSS	Colonic Mucosa	Colon
47	chr11:64863200-64863600	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr11:64863200-64863600	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr11:64863200-64863600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:64863200-64863600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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