Variant report

Variant	rs12170049
Chromosome Location	chr22:32061468-32061469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:32061249-32062135	SK-N-SH	brain:	n/a	chr22:32061784-32061805 chr22:32061782-32061800 chr22:32061783-32061799 chr22:32061785-32061798
2	CTCF	chr22:32061461-32061520	GM12892	blood:	n/a	n/a
3	SMC3	chr22:32061246-32062132	SK-N-SH	brain:	n/a	chr22:32061784-32061798
4	RAD21	chr22:32061328-32061980	SK-N-SH	brain:	n/a	chr22:32061783-32061802
5	CTCF	chr22:32061380-32061530	GM12872	blood:	n/a	n/a
6	CTCF	chr22:32061395-32061926	HCT-116	colon:	n/a	chr22:32061784-32061805 chr22:32061782-32061800 chr22:32061783-32061799 chr22:32061785-32061798
7	CTCF	chr22:32061420-32061570	K562	blood:	n/a	n/a
8	CTCF	chr22:32061320-32061470	AG09319	gingival:	n/a	n/a
9	CEBPB	chr22:32061462-32061970	A549	lung:	n/a	n/a
10	CTCF	chr22:32061371-32061979	A549	lung:	n/a	chr22:32061784-32061805 chr22:32061782-32061800 chr22:32061783-32061799 chr22:32061785-32061798

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32061138-32064448..22:32102727-32109893	GM12878	blood:
2	22:32061138-32064448..22:32338420-32342898	GM12878	blood:
3	22:32061138-32064448..22:32920308-32927723	Hela-S3	cervix:
4	22:31978142-31983723..22:32061138-32064448	GM12878	blood:
5	22:31864703-31891033..22:32061138-32064448	GM12878	blood:
6	22:31836635-31847259..22:32061138-32064448	GM12878	blood:
7	chr22:32061183..32063284-chr22:32147605..32150438,2	K562	blood:
8	22:32061138-32064448..22:32477762-32487457	GM12878	blood:
9	22:32061138-32064448..22:32096851-32100847	GM12878	blood:
10	22:32012966-32043914..22:32061138-32064448	K562	blood:
11	22:31961151-31976153..22:32061138-32064448	K562	blood:
12	chr22:31884943..31887005-chr22:32059895..32061640,2	K562	blood:
13	22:32061138-32064448..22:32264718-32278135	GM12878	blood:
14	chr22:32057051..32058715-chr22:32059694..32061792,2	MCF-7	breast:
15	22:32061138-32064448..22:33190123-33206921	K562	blood:
16	22:32061138-32064448..22:32868055-32872511	GM12878	blood:
17	22:32061138-32064448..22:32188129-32210582	GM12878	blood:
18	22:31914965-31930706..22:32061138-32064448	K562	blood:
19	22:32061138-32064448..22:32878464-32886640	K562	blood:
20	22:32061138-32064448..22:32594665-32606395	K562	blood:
21	22:32061138-32064448..22:32807141-32809335	GM12878	blood:
22	chr22:32057222..32060101-chr22:32060564..32063470,2	K562	blood:
23	22:32061138-32064448..22:32802848-32805157	GM12878	blood:
24	22:32061138-32064448..22:32170492-32188129	GM12878	blood:
25	22:32061138-32064448..22:32162110-32166713	GM12878	blood:
26	chr22:32061316..32062330-chr22:32365767..32366693,3	K562	blood:
27	22:32061138-32064448..22:32740683-32750950	GM12878	blood:
28	22:32061138-32064448..22:32552403-32557711	K562	blood:
29	22:32061138-32064448..22:32764253-32784733	GM12878	blood:
30	22:32061138-32064448..22:32750950-32761732	H1-hESC	embryonic stem cell:	embryo
31	chr22:32059940..32062167-chr22:32148012..32149748,2	MCF-7	breast:
32	22:32061138-32064448..22:32860159-32865649	Hela-S3	cervix:
33	22:32061138-32064448..22:32211896-32215168	GM12878	blood:
34	22:32061138-32064448..22:32228866-32235273	GM12878	blood:
35	chr22:32057091..32059812-chr22:32060274..32063156,2	MCF-7	breast:
36	22:32061138-32064448..22:32334260-32338420	GM12878	blood:
37	22:32061138-32064448..22:32342898-32343477	GM12878	blood:
38	22:31803954-31807204..22:32061138-32064448	GM12878	blood:
39	22:32061138-32064448..22:32292186-32294405	GM12878	blood:

No data

Variant related genes	Relation type
PISD	TF binding region
ENSG00000183530	Chromatin interaction
ENSG00000236132	Chromatin interaction
ENSG00000205856	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000230120	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000233733	Chromatin interaction
ENSG00000100170	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000128253	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000252909	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000199248	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000242082	Chromatin interaction
ENSG00000254127	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000100220	Chromatin interaction
ENSG00000232218	Chromatin interaction

rs_ID	r²[population]
rs10154415	1.00[AMR][1000 genomes]
rs12165610	1.00[AMR][1000 genomes]
rs12166668	1.00[AMR][1000 genomes]
rs12166752	1.00[AMR][1000 genomes]
rs12167269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12167380	1.00[AMR][1000 genomes]
rs12167999	1.00[AMR][1000 genomes]
rs12169596	1.00[AMR][1000 genomes]
rs13433570	1.00[AMR][1000 genomes]
rs16989642	1.00[AMR][1000 genomes]
rs16989647	1.00[AMR][1000 genomes]
rs16989655	1.00[AMR][1000 genomes]
rs28374120	1.00[AMR][1000 genomes]
rs28760352	1.00[AMR][1000 genomes]
rs56662300	1.00[AMR][1000 genomes]
rs5749296	1.00[AMR][1000 genomes]
rs57955202	1.00[AMR][1000 genomes]
rs60117275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60746452	1.00[AMR][1000 genomes]
rs61323004	1.00[AMR][1000 genomes]
rs73396301	1.00[AMR][1000 genomes]
rs73398213	1.00[AMR][1000 genomes]
rs73398220	1.00[AMR][1000 genomes]
rs7364312	1.00[AMR][1000 genomes]
rs73881392	1.00[AMR][1000 genomes]
rs73881393	0.82[AFR][1000 genomes]
rs73881394	1.00[AMR][1000 genomes]
rs73881395	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881396	1.00[AMR][1000 genomes]
rs73881398	1.00[AMR][1000 genomes]
rs9619201	1.00[AMR][1000 genomes]
rs9619202	1.00[AMR][1000 genomes]
rs9619209	1.00[AMR][1000 genomes]
rs9619213	1.00[AMR][1000 genomes]
rs9619214	1.00[AMR][1000 genomes]
rs9619216	1.00[AMR][1000 genomes]
rs9619227	1.00[AMR][1000 genomes]
rs9619228	1.00[AMR][1000 genomes]
rs9619236	1.00[AMR][1000 genomes]
rs9619238	1.00[AMR][1000 genomes]
rs9621271	1.00[AMR][1000 genomes]
rs9621273	1.00[AMR][1000 genomes]
rs9621274	1.00[AMR][1000 genomes]
rs9621276	1.00[AMR][1000 genomes]
rs9621277	1.00[AMR][1000 genomes]
rs9621281	1.00[AMR][1000 genomes]
rs9621283	1.00[AMR][1000 genomes]
rs9621284	1.00[AMR][1000 genomes]
rs9621293	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621297	1.00[AMR][1000 genomes]
rs9621298	1.00[AMR][1000 genomes]
rs9621306	1.00[AMR][1000 genomes]
rs9621308	1.00[AMR][1000 genomes]
rs9621310	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621314	1.00[AMR][1000 genomes]
rs9621320	1.00[AMR][1000 genomes]
rs9621337	1.00[AMR][1000 genomes]
rs9621342	1.00[AMR][1000 genomes]
rs9621343	1.00[AMR][1000 genomes]
rs9621356	1.00[AMR][1000 genomes]

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32058800-32061600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr22:32058800-32062000	Weak transcription	Spleen	Spleen
3	chr22:32058800-32063400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:32058800-32072400	Weak transcription	Fetal Heart	heart
5	chr22:32059000-32061600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr22:32059000-32061600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr22:32059000-32061600	Weak transcription	A549	lung
8	chr22:32059000-32061600	Weak transcription	Dnd41	blood
9	chr22:32059000-32063800	Weak transcription	HMEC	breast
10	chr22:32059000-32066600	Weak transcription	Hela-S3	cervix
11	chr22:32059000-32067000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr22:32059000-32070000	Weak transcription	Primary B cells from cord blood	blood
13	chr22:32059000-32072400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr22:32059000-32072400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr22:32061000-32061600	Enhancers	Stomach Mucosa	stomach
16	chr22:32061200-32062000	Enhancers	Duodenum Mucosa	Duodenum
17	chr22:32061400-32061600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:32061400-32061600	Enhancers	Thymus	Thymus
19	chr22:32061400-32061800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr22:32061400-32061800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:32061400-32061800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr22:32061400-32061800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr22:32061400-32061800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr22:32061400-32061800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr22:32061400-32061800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr22:32061400-32061800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:32061400-32061800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:32061400-32061800	Enhancers	Placenta	Placenta
29	chr22:32061400-32061800	Flanking Active TSS	HepG2	liver
30	chr22:32061400-32061800	Flanking Active TSS	K562	blood
31	chr22:32061400-32061800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr22:32061400-32062000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr22:32061400-32062000	Enhancers	Primary B cells from peripheral blood	blood
34	chr22:32061400-32062000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr22:32061400-32062000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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