Variant report

Variant	rs12168582
Chromosome Location	chr22:28316227-28316228
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	TAF1	chr22:28314987-28316393	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr22:28316180-28316330	AoAF	blood vessel:	n/a	n/a
3	MXI1	chr22:28314297-28316314	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr22:28316140-28316290	HUVEC	blood vessel:	n/a	n/a
5	TBP	chr22:28315018-28316379	GM12878	blood:	n/a	n/a
6	CTCF	chr22:28316200-28316350	HMF	breast:	n/a	n/a
7	POLR2A	chr22:28314871-28316467	GM12878	blood:	n/a	n/a
8	FOS	chr22:28316165-28316664	MCF10A-Er-Src	breast:	n/a	chr22:28316505-28316515 chr22:28316505-28316515 chr22:28316505-28316515 chr22:28316505-28316515
9	CTCF	chr22:28316180-28316330	GM12865	blood:	n/a	n/a
10	POLR2A	chr22:28314826-28316650	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr22:28315929-28316243	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF263	chr22:28315291-28316402	HEK293-T-REx	kidney:	n/a	n/a
13	CTCF	chr22:28316120-28316270	HA-sp	spinal cord:	n/a	n/a
14	POLR2A	chr22:28314805-28316269	PFSK-1	brain:	n/a	n/a
15	CTCF	chr22:28316109-28316407	IMR90	lung:	n/a	n/a
16	KAP1	chr22:28315472-28316499	HEK293	kidney:	n/a	n/a
17	POLR2A	chr22:28314460-28316375	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr22:28316220-28316370	SK-N-SH_RA	brain:	n/a	n/a
19	TAF1	chr22:28315900-28316381	PFSK-1	brain:	n/a	n/a
20	RCOR1	chr22:28315162-28316403	K562	blood:	n/a	n/a
21	POLR2A	chr22:28314924-28316380	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr22:28316100-28316250	NHDF-neo	bronchial:	n/a	n/a
23	CHD2	chr22:28314389-28316322	GM12878	blood:	n/a	n/a
24	CTCF	chr22:28316140-28316290	HMF	breast:	n/a	n/a
25	SIN3A	chr22:28314004-28316383	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr22:28314272-28316270	GM19193	blood:	n/a	n/a
27	TBP	chr22:28315950-28316397	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr22:28316140-28316290	BJ	skin:	n/a	n/a
29	CTCF	chr22:28316142-28316340	HepG2	liver:	n/a	n/a
30	HCFC1	chr22:28314278-28316374	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr22:28316019-28316288	K562	blood:	n/a	n/a
32	TFAP2A	chr22:28315280-28316262	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr22:28314498-28316356	H1-neurons	neurons:	n/a	n/a
34	CTCF	chr22:28316160-28316310	AG09319	gingival:	n/a	n/a
35	CTCF	chr22:28316170-28316333	MCF-7	breast:	n/a	n/a
36	PRDM1	chr22:28316222-28316677	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr22:28316080-28316249	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr22:28316160-28316310	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr22:28316159-28316408	K562	blood:	n/a	n/a
40	CTCF	chr22:28316174-28316332	GM12892	blood:	n/a	n/a
41	CTCF	chr22:28316220-28316370	A549	lung:	n/a	n/a
42	SMC3	chr22:28316022-28316426	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr22:28316180-28316330	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr22:28316140-28316290	HEK293	kidney:	n/a	n/a
45	POLR2A	chr22:28314737-28316509	PFSK-1	brain:	n/a	n/a
46	MAX	chr22:28314185-28316416	A549	lung:	n/a	chr22:28314497-28314510 chr22:28314497-28314507 chr22:28314501-28314508 chr22:28314497-28314510 chr22:28314495-28314510 chr22:28315026-28315036 chr22:28314497-28314512 chr22:28314905-28314914 chr22:28314498-28314509 chr22:28314498-28314509 chr22:28314498-28314508 chr22:28314497-28314510 chr22:28314499-28314508
47	MYC	chr22:28314309-28316364	MCF10A-Er-Src	breast:	n/a	chr22:28314497-28314510 chr22:28314497-28314507 chr22:28314501-28314508 chr22:28314497-28314510 chr22:28314495-28314510 chr22:28315026-28315036 chr22:28314497-28314512 chr22:28314905-28314914 chr22:28314498-28314509 chr22:28314498-28314509 chr22:28314498-28314508 chr22:28314497-28314510 chr22:28314499-28314508
48	RELA	chr22:28314398-28316534	GM10847	blood:	n/a	n/a
49	POLR2A	chr22:28314990-28316267	HCT-116	colon:	n/a	n/a
50	POLR2A	chr22:28314347-28316440	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28314414..28316359-chr22:28329725..28332798,3	MCF-7	breast:
2	chr22:28314687..28317374-chr22:28386537..28389209,3	MCF-7	breast:

Variant related genes	Relation type
PITPNB	TF binding region
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10154425	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10212036	0.81[EUR][1000 genomes]
rs10483140	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483142	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10483143	0.89[MEX][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs118840	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12165651	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165797	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166023	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12166077	1.00[ASW][hapmap];0.89[CEU][hapmap];0.89[MEX][hapmap];0.91[EUR][1000 genomes]
rs12166158	0.86[EUR][1000 genomes]
rs12166256	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12166389	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166719	0.80[AMR][1000 genomes]
rs12166740	0.89[MEX][hapmap];0.89[EUR][1000 genomes]
rs12166912	0.86[EUR][1000 genomes]
rs12166938	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12167320	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167829	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168054	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs12168180	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12168251	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12169097	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12169888	0.91[EUR][1000 genomes]
rs12169936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170022	0.86[EUR][1000 genomes]
rs12170161	0.90[MEX][hapmap]
rs12170558	0.80[AMR][1000 genomes]
rs12170953	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs12171104	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138636	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs138637	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs138639	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes]
rs138640	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs138642	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs138646	0.81[CEU][hapmap];1.00[MEX][hapmap]
rs138651	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs138653	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs138654	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs138655	0.91[EUR][1000 genomes]
rs138656	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs138658	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs138660	0.89[CEU][hapmap];0.89[MEX][hapmap];0.91[EUR][1000 genomes]
rs138664	0.89[CEU][hapmap];0.89[MEX][hapmap];0.91[EUR][1000 genomes]
rs138665	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs138667	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs138669	0.84[EUR][1000 genomes]
rs138670	0.86[EUR][1000 genomes]
rs138671	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs138672	0.91[EUR][1000 genomes]
rs138679	0.89[MEX][hapmap]
rs16985691	1.00[CHD][hapmap];0.89[MEX][hapmap]
rs16985705	0.92[LWK][hapmap];0.91[MKK][hapmap]
rs16985763	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985967	0.89[MEX][hapmap];0.80[AMR][1000 genomes]
rs16986037	0.86[EUR][1000 genomes]
rs16986077	0.81[EUR][1000 genomes]
rs16987005	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17390800	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407024	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs17483887	0.89[CEU][hapmap];0.89[MEX][hapmap];0.91[EUR][1000 genomes]
rs17484337	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2745562	0.86[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28375646	0.91[EUR][1000 genomes]
rs470098	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs470101	0.90[CEU][hapmap];1.00[MEX][hapmap]
rs470102	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs470103	0.89[CEU][hapmap];0.89[MEX][hapmap];0.91[EUR][1000 genomes]
rs470104	0.91[EUR][1000 genomes]
rs55856549	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56233401	0.86[EUR][1000 genomes]
rs56393679	0.80[AMR][1000 genomes]
rs57686964	0.86[EUR][1000 genomes]
rs58050941	0.86[EUR][1000 genomes]
rs58823697	0.86[EUR][1000 genomes]
rs7286519	0.91[EUR][1000 genomes]
rs7288331	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289984	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292562	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73880355	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880374	0.91[EUR][1000 genomes]
rs73880375	0.91[EUR][1000 genomes]
rs73880376	0.91[EUR][1000 genomes]
rs73880381	0.91[EUR][1000 genomes]
rs73880382	0.84[EUR][1000 genomes]
rs73880383	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73880384	0.81[EUR][1000 genomes]
rs73880387	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73880393	0.84[EUR][1000 genomes]
rs761323	0.86[EUR][1000 genomes]
rs8141163	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141173	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142920	0.89[MEX][hapmap]
rs9306449	0.91[MKK][hapmap]
rs9620752	0.81[CEU][hapmap];1.00[GIH][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620755	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9620757	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620762	0.89[CEU][hapmap];0.89[MEX][hapmap];0.91[EUR][1000 genomes]
rs9620764	0.89[CEU][hapmap];0.89[MEX][hapmap];0.91[EUR][1000 genomes]
rs9620766	0.80[AMR][1000 genomes]
rs9620767	0.80[AMR][1000 genomes]
rs9620768	0.89[MEX][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9620769	0.84[EUR][1000 genomes]
rs9620771	0.84[EUR][1000 genomes]
rs9625350	0.84[AFR][1000 genomes]
rs9625352	1.00[MEX][hapmap]
rs9625361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625366	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625367	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625370	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625374	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625375	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625377	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625387	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs9625388	0.91[EUR][1000 genomes]
rs9625390	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs9625391	0.89[CEU][hapmap];0.89[MEX][hapmap];0.89[EUR][1000 genomes]
rs9625393	0.81[EUR][1000 genomes]
rs9625395	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625403	0.80[AMR][1000 genomes]
rs9625408	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs9625409	0.84[EUR][1000 genomes]
rs9625410	0.83[EUR][1000 genomes]
rs9625413	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625415	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9625416	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625417	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625418	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9625421	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9985213	0.97[AMR][1000 genomes];0.98[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 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	chr22:28313000-28317200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:28313800-28316400	Active TSS	Left Ventricle	heart
3	chr22:28313800-28316600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr22:28314000-28316400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:28314000-28316400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:28314000-28316400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:28314200-28316400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:28314200-28316400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:28314200-28316400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr22:28314200-28316400	Active TSS	Right Ventricle	heart
11	chr22:28314200-28316600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr22:28314200-28316600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr22:28314200-28316600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr22:28314200-28316600	Active TSS	Right Atrium	heart
15	chr22:28314200-28316600	Active TSS	Hela-S3	cervix
16	chr22:28314200-28316800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:28314200-28316800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:28314200-28316800	Active TSS	Psoas Muscle	Psoas
19	chr22:28314200-28316800	Active TSS	Rectal Smooth Muscle	rectum
20	chr22:28314200-28316800	Active TSS	A549	lung
21	chr22:28314200-28317200	Active TSS	K562	blood
22	chr22:28314400-28316400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr22:28314400-28316400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:28314400-28316600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:28314400-28316600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr22:28314400-28316600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr22:28314400-28317000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:28315400-28316400	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr22:28315600-28316400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr22:28315600-28316400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr22:28315600-28316400	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr22:28315600-28316400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr22:28315600-28316400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr22:28315600-28316400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr22:28315600-28316400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr22:28315600-28316400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:28315600-28316400	Flanking Active TSS	Placenta	Placenta
38	chr22:28315600-28316400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr22:28315600-28316400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr22:28315600-28316400	Flanking Active TSS	Osteobl	bone
41	chr22:28315600-28316600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr22:28315600-28316600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr22:28315600-28316800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:28315600-28316800	Flanking Active TSS	HMEC	breast
45	chr22:28315600-28316800	Flanking Active TSS	NH-A	brain
46	chr22:28315600-28317000	Flanking Active TSS	Dnd41	blood
47	chr22:28315600-28317200	Flanking Active TSS	HUVEC	blood vessel
48	chr22:28315800-28316400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:28315800-28316400	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr22:28315800-28316400	Flanking Active TSS	Primary B cells from peripheral blood	blood

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