Variant report

Variant	rs12165697
Chromosome Location	chr22:30819752-30819753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:429)
CpG islands
(count:122)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr22:30819700-30820564	GM12878	blood:	n/a	n/a
2	BRCA1	chr22:30819704-30820349	Hela-S3	cervix:	n/a	n/a
3	MAX	chr22:30818774-30820508	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr22:30819550-30820334	GM12891	blood:	n/a	n/a
5	BHLHE40	chr22:30818878-30820426	K562	blood:	n/a	n/a
6	EP300	chr22:30819704-30820683	K562	blood:	n/a	n/a
7	ATF2	chr22:30819638-30820714	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr22:30818691-30821114	HUVEC	blood vessel:	n/a	n/a
9	TCF12	chr22:30818644-30820552	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr22:30819325-30820611	A549	lung:	n/a	n/a
11	POLR2A	chr22:30818708-30820390	HepG2	liver:	n/a	n/a
12	YY1	chr22:30819476-30820513	GM12878	blood:	n/a	chr22:30820038-30820058
13	HDAC2	chr22:30819582-30820385	HepG2	liver:	n/a	n/a
14	IRF1	chr22:30819743-30820491	K562	blood:	n/a	n/a
15	POLR2A	chr22:30818696-30821184	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr22:30819720-30819870	GM12865	blood:	n/a	n/a
17	POLR2A	chr22:30818930-30820387	MCF-7	breast:	n/a	n/a
18	NFIC	chr22:30819638-30820499	ECC-1	luminal epithelium:	n/a	n/a
19	CEBPB	chr22:30819664-30820378	Hela-S3	cervix:	n/a	n/a
20	NRF1	chr22:30819730-30820396	GM12878	blood:	n/a	n/a
21	STAT3	chr22:30819624-30819814	MCF10A-Er-Src	breast:	n/a	n/a
22	CTCF	chr22:30819720-30819870	GM12866	blood:	n/a	n/a
23	MYBL2	chr22:30819640-30820534	HepG2	liver:	n/a	n/a
24	POLR2A	chr22:30817434-30821076	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr22:30819035-30820519	GM12878	blood:	n/a	n/a
26	ZNF263	chr22:30818846-30820399	HEK293-T-REx	kidney:	n/a	n/a
27	MYC	chr22:30818894-30820424	K562	blood:	n/a	n/a
28	UBTF	chr22:30819455-30820404	K562	blood:	n/a	n/a
29	TBP	chr22:30819680-30820915	K562	blood:	n/a	n/a
30	EP300	chr22:30819705-30820655	GM12878	blood:	n/a	n/a
31	UBTF	chr22:30818793-30820446	K562	blood:	n/a	n/a
32	CBX3	chr22:30819704-30820444	K562	blood:	n/a	n/a
33	RFX5	chr22:30819666-30820294	HepG2	liver:	n/a	n/a
34	TAF1	chr22:30819668-30820327	SK-N-SH	brain:	n/a	n/a
35	FOXP2	chr22:30819566-30820383	PFSK-1	brain:	n/a	n/a
36	MAX	chr22:30818767-30820600	HepG2	liver:	n/a	n/a
37	POLR2A	chr22:30819015-30820473	GM18526	blood:	n/a	n/a
38	CTCF	chr22:30819740-30819890	NHLF	lung:	n/a	n/a
39	CREB1	chr22:30819446-30820482	HepG2	liver:	n/a	n/a
40	USF2	chr22:30819675-30820434	H1-hESC	embryonic stem cell:	n/a	chr22:30820221-30820232
41	E2F6	chr22:30819210-30820431	H1-hESC	embryonic stem cell:	n/a	n/a
42	MXI1	chr22:30819744-30820298	Hela-S3	cervix:	n/a	n/a
43	USF1	chr22:30819694-30820519	A549	lung:	n/a	n/a
44	ELF1	chr22:30818792-30820450	SK-N-SH	brain:	n/a	n/a
45	MAZ	chr22:30818156-30822979	IMR90	lung:	n/a	n/a
46	IRF1	chr22:30819691-30820412	K562	blood:	n/a	n/a
47	ZBTB33	chr22:30819679-30820274	A549	lung:	n/a	n/a
48	CTCF	chr22:30819720-30819870	HVMF	connective:	n/a	n/a
49	E2F6	chr22:30818820-30820435	K562	blood:	n/a	n/a
50	CTCF	chr22:30819720-30819870	WERI-Rb-1	eye:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30819736-30819786	CMK	blood:	n/a
2	chr22:30819736-30819786	AG10803	skin:	n/a
3	chr22:30819716-30819766	HNPCEpiC	eye:	n/a
4	chr22:30819736-30819786	Jurkat	blood:	n/a
5	chr22:30819736-30819786	SAEC	small airway:	n/a
6	chr22:30819716-30819766	HCM	heart:	n/a
7	chr22:30819716-30819766	HIPEpiC	eye:	n/a
8	chr22:30819736-30819786	SKMC	muscle:	n/a
9	chr22:30819716-30819766	HEEpiC	esophagus:	n/a
10	chr22:30819716-30819766	HL-60	blood:	n/a
11	chr22:30819716-30819766	ProgFib	skin:	n/a
12	chr22:30819716-30819766	HAEpiC	amniotic membrane:	n/a
13	chr22:30819716-30819766	GM19239	blood:	n/a
14	chr22:30819736-30819786	AG09319	gingival:	n/a
15	chr22:30819716-30819766	A549	lung:	n/a
16	chr22:30819716-30819766	HepG2	liver:	n/a
17	chr22:30819736-30819786	SK-N-SH	brain:	n/a
18	chr22:30819716-30819766	MCF-7	breast:	n/a
19	chr22:30819716-30819766	Caco-2	colon:	n/a
20	chr22:30819736-30819786	PANC-1	pancreas:	n/a
21	chr22:30819736-30819786	NB4	blood:	n/a
22	chr22:30819736-30819786	A549	lung:	n/a
23	chr22:30819716-30819766	SK-N-MC	brain:	n/a
24	chr22:30819736-30819786	K562	blood:	n/a
25	chr22:30819716-30819766	HCF	heart:	n/a
26	chr22:30819736-30819786	ECC-1	luminal epithelium:	n/a
27	chr22:30819716-30819766	RPTEC	kidney:	n/a
28	chr22:30819716-30819766	K562	blood:	n/a
29	chr22:30819736-30819786	NHDF-neo	bronchial:	n/a
30	chr22:30819716-30819766	HRCEpiC	kidney:	n/a
31	chr22:30819736-30819786	HCPEpiC	choroid plexus:	n/a
32	chr22:30819716-30819766	HCPEpiC	choroid plexus:	n/a
33	chr22:30819736-30819786	HRPEpiC	eye:	n/a
34	chr22:30819736-30819786	SK-N-MC	brain:	n/a
35	chr22:30819736-30819786	HNPCEpiC	eye:	n/a
36	chr22:30819716-30819766	ovcar-3	ovarian:	n/a
37	chr22:30819716-30819766	LNCaP	prostate:	n/a
38	chr22:30819716-30819766	HUVEC	blood vessel:	n/a
39	chr22:30819736-30819786	IMR90	lung:	fetal
40	chr22:30819716-30819766	BJ	skin:	n/a
41	chr22:30819736-30819786	HL-60	blood:	n/a
42	chr22:30819716-30819766	GM12892	blood:	n/a
43	chr22:30819716-30819766	T-47D	breast:	n/a
44	chr22:30819716-30819766	SAEC	small airway:	n/a
45	chr22:30819716-30819766	IMR90	lung:	fetal
46	chr22:30819716-30819766	GM06990	blood:	n/a
47	chr22:30819716-30819766	H1-hESC	embryonic stem cell:	embryo
48	chr22:30819716-30819766	PANC-1	pancreas:	n/a
49	chr22:30819736-30819786	PFSK-1	brain:	n/a
50	chr22:30819736-30819786	BE2_C	brain:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:33962970..33963730-chr22:30819310..30819829,2	MCF-7	breast:
2	chr22:30657348..30659862-chr22:30818181..30820409,2	K562	blood:
3	chr22:30814763..30819112-chr22:30819393..30823307,5	MCF-7	breast:
4	chr22:30819399..30820289-chrX:153626296..153627131,2	Hela-S3	cervix:
5	chr22:30781036..30783724-chr22:30818212..30820398,3	K562	blood:
6	chr22:30819339..30819962-chr5:171614869..171615862,2	Hela-S3	cervix:
7	chr16:10972854..10974355-chr22:30818677..30820180,2	MCF-7	breast:
8	chr22:30683198..30686724-chr22:30818649..30821641,4	K562	blood:
9	chr22:30816361..30822733-chr22:30829064..30833429,8	K562	blood:
10	chr22:30783259..30784811-chr22:30818323..30820284,2	MCF-7	breast:
11	chr22:30818699..30820979-chr22:30839778..30841389,2	K562	blood:
12	chr22:30817878..30820177-chr9:95054878..95056786,2	MCF-7	breast:
13	chr22:30780643..30783306-chr22:30818763..30821068,2	MCF-7	breast:
14	chr22:30641395..30644994-chr22:30815782..30819866,5	MCF-7	breast:
15	chr22:30683198..30685731-chr22:30819153..30821641,4	K562	blood:
16	chr22:30819744..30820647-chr6:27860502..27861015,2	Hela-S3	cervix:
17	chr22:30722829..30724775-chr22:30819297..30822266,2	MCF-7	breast:
18	chr22:30801200..30804661-chr22:30818320..30820212,3	MCF-7	breast:
19	chr22:30791754..30798377-chr22:30814746..30822334,13	K562	blood:
20	chr22:30801331..30806439-chr22:30816907..30821751,5	K562	blood:
21	chr14:35022853..35025221-chr22:30818652..30820159,2	MCF-7	breast:
22	chr22:30647828..30650032-chr22:30818510..30820728,3	MCF-7	breast:
23	chr22:30661604..30663731-chr22:30819612..30821405,2	MCF-7	breast:
24	chr22:30502612..30504825-chr22:30819472..30821124,2	MCF-7	breast:
25	chr22:30783066..30785199-chr22:30819529..30822458,2	K562	blood:
26	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
27	chr22:30819368..30821072-chr22:30821188..30822984,2	MCF-7	breast:
28	chr22:30767828..30769825-chr22:30819204..30821511,2	MCF-7	breast:
29	chr22:30818782..30821257-chr22:30824236..30826444,3	MCF-7	breast:
30	chr22:30805177..30806953-chr22:30818450..30820693,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272689	TF binding region
MTFP1	TF binding region
RNF215	TF binding region
RNF215	CpG island
ENSG00000272689	CpG island
MTFP1	CpG island
ENSG00000147403	Chromatin interaction
ENSG00000222915	Chromatin interaction
ENSG00000249590	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000268812	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000128342	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000099985	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000203606	Chromatin interaction
ENSG00000072786	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12165816	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12166660	0.87[AMR][1000 genomes]
rs12167903	1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs12168516	1.00[MEX][hapmap]
rs12168728	1.00[MEX][hapmap]
rs12170269	0.87[AMR][1000 genomes]
rs12170576	0.87[AMR][1000 genomes]
rs42929	1.00[MEX][hapmap]
rs5753168	1.00[MEX][hapmap]
rs757573	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9619106	0.87[AMR][1000 genomes]
rs9619116	1.00[MEX][hapmap]
rs9620980	1.00[AMR][1000 genomes]
rs9653824	0.87[AMR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30817800-30819800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr22:30818000-30821600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:30818200-30820000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr22:30818400-30819800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:30818400-30819800	Flanking Active TSS	HSMM	muscle
6	chr22:30818400-30820600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr22:30818400-30820800	Active TSS	K562	blood
8	chr22:30818400-30821600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:30818600-30819800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:30818600-30819800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr22:30818600-30819800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr22:30818600-30819800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:30818600-30819800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr22:30818600-30819800	Flanking Active TSS	Osteobl	bone
15	chr22:30818600-30820600	Active TSS	Right Atrium	heart
16	chr22:30818600-30821800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:30818600-30821800	Flanking Active TSS	NHEK	skin
18	chr22:30818600-30822400	Active TSS	Fetal Kidney	kidney
19	chr22:30818600-30822600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:30818600-30822600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr22:30818600-30822800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr22:30818600-30823000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr22:30818800-30819800	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr22:30818800-30819800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr22:30818800-30819800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr22:30818800-30819800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:30818800-30819800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:30818800-30819800	Flanking Active TSS	HUVEC	blood vessel
29	chr22:30818800-30819800	Flanking Active TSS	NHDF-Ad	bronchial
30	chr22:30818800-30820400	Active TSS	GM12878-XiMat	blood
31	chr22:30818800-30820600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr22:30818800-30820600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr22:30818800-30820600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr22:30818800-30820600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:30818800-30820600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr22:30818800-30820600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:30818800-30820600	Active TSS	Ovary	ovary
38	chr22:30818800-30820600	Active TSS	A549	lung
39	chr22:30818800-30822600	Active TSS	Psoas Muscle	Psoas
40	chr22:30819000-30819800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:30819000-30819800	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr22:30819000-30819800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr22:30819000-30819800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr22:30819000-30819800	Active TSS	Fetal Heart	heart
45	chr22:30819000-30819800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
46	chr22:30819000-30819800	Flanking Active TSS	Dnd41	blood
47	chr22:30819000-30820000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr22:30819000-30820000	Bivalent/Poised TSS	HepG2	liver
49	chr22:30819000-30820400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr22:30819000-30820600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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