Variant report

Variant	rs12165816
Chromosome Location	chr22:30819999-30820000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:518)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:518 , 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	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	USF1	chr22:30819929-30820386	A549	lung:	n/a	n/a
8	ATF2	chr22:30819638-30820714	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:30818691-30821114	HUVEC	blood vessel:	n/a	n/a
10	TCF12	chr22:30818644-30820552	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr22:30819325-30820611	A549	lung:	n/a	n/a
12	POLR2A	chr22:30818708-30820390	HepG2	liver:	n/a	n/a
13	YY1	chr22:30819476-30820513	GM12878	blood:	n/a	chr22:30820038-30820058
14	HDAC2	chr22:30819582-30820385	HepG2	liver:	n/a	n/a
15	IRF1	chr22:30819743-30820491	K562	blood:	n/a	n/a
16	POLR2A	chr22:30818696-30821184	HUVEC	blood vessel:	n/a	n/a
17	NR3C1	chr22:30819950-30820359	A549	lung:	n/a	n/a
18	E2F4	chr22:30819942-30820943	MCF10A-Er-Src	breast:	n/a	n/a
19	SP1	chr22:30819762-30820418	GM12878	blood:	n/a	n/a
20	POLR2A	chr22:30818930-30820387	MCF-7	breast:	n/a	n/a
21	NFIC	chr22:30819638-30820499	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr22:30819664-30820378	Hela-S3	cervix:	n/a	n/a
23	NRF1	chr22:30819730-30820396	GM12878	blood:	n/a	n/a
24	MYBL2	chr22:30819640-30820534	HepG2	liver:	n/a	n/a
25	POLR2A	chr22:30817434-30821076	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr22:30819035-30820519	GM12878	blood:	n/a	n/a
27	ZNF263	chr22:30818846-30820399	HEK293-T-REx	kidney:	n/a	n/a
28	MYC	chr22:30818894-30820424	K562	blood:	n/a	n/a
29	SIN3AK20	chr22:30819869-30820400	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr22:30819781-30820366	SK-N-SH_RA	brain:	n/a	n/a
31	USF1	chr22:30819953-30820390	HepG2	liver:	n/a	n/a
32	UBTF	chr22:30819455-30820404	K562	blood:	n/a	n/a
33	TEAD4	chr22:30819983-30820394	H1-hESC	embryonic stem cell:	n/a	n/a
34	TBP	chr22:30819680-30820915	K562	blood:	n/a	n/a
35	EP300	chr22:30819705-30820655	GM12878	blood:	n/a	n/a
36	UBTF	chr22:30818793-30820446	K562	blood:	n/a	n/a
37	CBX3	chr22:30819704-30820444	K562	blood:	n/a	n/a
38	RFX5	chr22:30819666-30820294	HepG2	liver:	n/a	n/a
39	TAF1	chr22:30819668-30820327	SK-N-SH	brain:	n/a	n/a
40	FOXP2	chr22:30819566-30820383	PFSK-1	brain:	n/a	n/a
41	MAX	chr22:30818767-30820600	HepG2	liver:	n/a	n/a
42	POLR2A	chr22:30819015-30820473	GM18526	blood:	n/a	n/a
43	USF1	chr22:30819896-30820432	HepG2	liver:	n/a	n/a
44	CREB1	chr22:30819446-30820482	HepG2	liver:	n/a	n/a
45	USF2	chr22:30819675-30820434	H1-hESC	embryonic stem cell:	n/a	chr22:30820221-30820232
46	E2F6	chr22:30819210-30820431	H1-hESC	embryonic stem cell:	n/a	n/a
47	MXI1	chr22:30819744-30820298	Hela-S3	cervix:	n/a	n/a
48	USF1	chr22:30819694-30820519	A549	lung:	n/a	n/a
49	ELF1	chr22:30818792-30820450	SK-N-SH	brain:	n/a	n/a
50	MAZ	chr22:30818156-30822979	IMR90	lung:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30657348..30659862-chr22:30818181..30820409,2	K562	blood:
2	chr22:30814763..30819112-chr22:30819393..30823307,5	MCF-7	breast:
3	chr22:30819399..30820289-chrX:153626296..153627131,2	Hela-S3	cervix:
4	chr22:30781036..30783724-chr22:30818212..30820398,3	K562	blood:
5	chr16:10972854..10974355-chr22:30818677..30820180,2	MCF-7	breast:
6	chr22:30683198..30686724-chr22:30818649..30821641,4	K562	blood:
7	chr22:30816361..30822733-chr22:30829064..30833429,8	K562	blood:
8	chr22:30783259..30784811-chr22:30818323..30820284,2	MCF-7	breast:
9	chr22:30818699..30820979-chr22:30839778..30841389,2	K562	blood:
10	chr22:30817878..30820177-chr9:95054878..95056786,2	MCF-7	breast:
11	chr22:30780643..30783306-chr22:30818763..30821068,2	MCF-7	breast:
12	chr22:30683198..30685731-chr22:30819153..30821641,4	K562	blood:
13	chr22:30819744..30820647-chr6:27860502..27861015,2	Hela-S3	cervix:
14	chr22:30722829..30724775-chr22:30819297..30822266,2	MCF-7	breast:
15	chr22:30801200..30804661-chr22:30818320..30820212,3	MCF-7	breast:
16	chr22:30791754..30798377-chr22:30814746..30822334,13	K562	blood:
17	chr22:30801331..30806439-chr22:30816907..30821751,5	K562	blood:
18	chr14:35022853..35025221-chr22:30818652..30820159,2	MCF-7	breast:
19	chr22:30647828..30650032-chr22:30818510..30820728,3	MCF-7	breast:
20	chr22:30661604..30663731-chr22:30819612..30821405,2	MCF-7	breast:
21	chr22:30502612..30504825-chr22:30819472..30821124,2	MCF-7	breast:
22	chr22:30783066..30785199-chr22:30819529..30822458,2	K562	blood:
23	chr22:30780810..30782737-chr22:30819771..30822166,2	MCF-7	breast:
24	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
25	chr22:30819368..30821072-chr22:30821188..30822984,2	MCF-7	breast:
26	chr22:30767828..30769825-chr22:30819204..30821511,2	MCF-7	breast:
27	chr22:30818782..30821257-chr22:30824236..30826444,3	MCF-7	breast:
28	chr22:30805177..30806953-chr22:30818450..30820693,2	MCF-7	breast:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12165697	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	0.91[YRI][hapmap];0.81[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12165816	CCL20	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30818000-30821600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:30818200-30820000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr22:30818400-30820600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr22:30818400-30820800	Active TSS	K562	blood
5	chr22:30818400-30821600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:30818600-30820600	Active TSS	Right Atrium	heart
7	chr22:30818600-30821800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:30818600-30821800	Flanking Active TSS	NHEK	skin
9	chr22:30818600-30822400	Active TSS	Fetal Kidney	kidney
10	chr22:30818600-30822600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:30818600-30822600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr22:30818600-30822800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr22:30818600-30823000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr22:30818800-30820400	Active TSS	GM12878-XiMat	blood
15	chr22:30818800-30820600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr22:30818800-30820600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr22:30818800-30820600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:30818800-30820600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:30818800-30820600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr22:30818800-30820600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:30818800-30820600	Active TSS	Ovary	ovary
22	chr22:30818800-30820600	Active TSS	A549	lung
23	chr22:30818800-30822600	Active TSS	Psoas Muscle	Psoas
24	chr22:30819000-30820000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr22:30819000-30820000	Bivalent/Poised TSS	HepG2	liver
26	chr22:30819000-30820400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr22:30819000-30820600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:30819000-30820600	Active TSS	Aorta	Aorta
29	chr22:30819000-30820600	Active TSS	Esophagus	oesophagus
30	chr22:30819000-30820600	Flanking Active TSS	Placenta	Placenta
31	chr22:30819000-30820600	Active TSS	Left Ventricle	heart
32	chr22:30819000-30820800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr22:30819000-30820800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr22:30819000-30820800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr22:30819000-30820800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr22:30819000-30820800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr22:30819000-30820800	Active TSS	Fetal Brain Female	brain
38	chr22:30819000-30820800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr22:30819000-30821800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:30819000-30822200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr22:30819000-30822600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr22:30819000-30822600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:30819000-30822800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr22:30819200-30820000	Flanking Active TSS	NH-A	brain
45	chr22:30819200-30820400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr22:30819200-30820400	Active TSS	Colon Smooth Muscle	Colon
47	chr22:30819200-30820400	Active TSS	Fetal Stomach	stomach
48	chr22:30819200-30820400	Active TSS	Lung	lung
49	chr22:30819200-30820600	Active TSS	Brain Angular Gyrus	brain
50	chr22:30819200-30820600	Active TSS	Gastric	stomach

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