Variant report

Variant	rs7291742
Chromosome Location	chr22:32292880-32292881
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	NR2F2	chr22:32292363-32292910	K562	blood:	n/a	n/a
2	IRF1	chr22:32291396-32293015	K562	blood:	n/a	n/a
3	NR2F2	chr22:32292440-32292880	K562	blood:	n/a	n/a
4	ZNF143	chr22:32292550-32292901	K562	blood:	n/a	chr22:32292731-32292750
5	GATA1	chr22:32291301-32292986	PBDE	blood:	n/a	chr22:32292380-32292387 chr22:32291639-32291648 chr22:32292375-32292391 chr22:32292609-32292626 chr22:32291985-32292002 chr22:32292376-32292389 chr22:32291639-32291649 chr22:32292377-32292389 chr22:32292378-32292388 chr22:32292369-32292386 chr22:32292378-32292387
6	CEBPD	chr22:32292367-32292918	K562	blood:	n/a	n/a
7	CEBPD	chr22:32292345-32292950	K562	blood:	n/a	n/a
8	GATA2	chr22:32292391-32292886	K562	blood:	n/a	chr22:32292609-32292626
9	TBL1XR1	chr22:32291247-32292928	K562	blood:	n/a	n/a
10	ARID3A	chr22:32291428-32292936	K562	blood:	n/a	n/a
11	TEAD4	chr22:32291371-32292950	K562	blood:	n/a	n/a
12	JUND	chr22:32292427-32292910	K562	blood:	n/a	n/a
13	IRF1	chr22:32291297-32292966	K562	blood:	n/a	n/a
14	STAT5A	chr22:32292369-32292911	K562	blood:	n/a	chr22:32292807-32292815 chr22:32292454-32292461
15	RCOR1	chr22:32292479-32292891	K562	blood:	n/a	n/a
16	TEAD4	chr22:32291370-32292912	K562	blood:	n/a	n/a
17	ZNF384	chr22:32291155-32292925	K562	blood:	n/a	n/a
18	TRIM28	chr22:32292403-32292882	K562	blood:	n/a	n/a
19	GATA1	chr22:32291158-32293155	K562	blood:	n/a	chr22:32292380-32292387 chr22:32291639-32291648 chr22:32292375-32292391 chr22:32292609-32292626 chr22:32291985-32292002 chr22:32292376-32292389 chr22:32291639-32291649 chr22:32292377-32292389 chr22:32292378-32292388 chr22:32292369-32292386 chr22:32292378-32292387
20	SMARCA4	chr22:32291224-32292979	K562	blood:	n/a	n/a
21	EP300	chr22:32291296-32292920	K562	blood:	n/a	n/a
22	TAL1	chr22:32291255-32292896	K562	blood:	n/a	chr22:32292608-32292626 chr22:32291985-32292003

No.	Distal block	Cell Line	Cell type
1	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
2	chr22:32291933..32294200-chr22:32339329..32341554,2	MCF-7	breast:
3	22:32292186-32294405..22:32846948-32860159	Hela-S3	cervix:
4	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
5	22:31936958-31958600..22:32292186-32294405	K562	blood:
6	chr22:32291606..32293161-chr22:32300241..32302985,2	K562	blood:

Variant related genes	Relation type
DEPDC5	TF binding region
ENSG00000128245	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11089531	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12159545	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16989540	0.88[AMR][1000 genomes]
rs16989600	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2051583	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994436	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs5998144	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998150	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998155	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998161	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62238893	0.81[AMR][1000 genomes]
rs62238934	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7289702	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73884225	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32242400-32313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:32243200-32294200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:32244400-32305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:32244600-32303400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
6	chr22:32254200-32293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:32256800-32293400	Weak transcription	Fetal Brain Male	brain
8	chr22:32261600-32296200	Strong transcription	Liver	Liver
9	chr22:32264200-32296000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr22:32265400-32293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:32267000-32297400	Weak transcription	Fetal Heart	heart
12	chr22:32268000-32308000	Weak transcription	A549	lung
13	chr22:32271200-32303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr22:32271400-32298400	Weak transcription	HSMMtube	muscle
15	chr22:32271600-32297400	Weak transcription	HSMM	muscle
16	chr22:32272600-32293600	Weak transcription	HUVEC	blood vessel
17	chr22:32272600-32298200	Weak transcription	NHLF	lung
18	chr22:32273000-32304000	Weak transcription	HMEC	breast
19	chr22:32274000-32295000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr22:32274000-32306600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr22:32274400-32306600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr22:32275000-32296200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:32275200-32296000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:32275600-32293200	Weak transcription	Psoas Muscle	Psoas
25	chr22:32275600-32295800	Strong transcription	Primary T cells from cord blood	blood
26	chr22:32276000-32315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:32276600-32293200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:32277600-32302400	Weak transcription	NHEK	skin
29	chr22:32279400-32297000	Weak transcription	Stomach Mucosa	stomach
30	chr22:32280400-32293400	Weak transcription	Right Ventricle	heart
31	chr22:32281000-32314800	Weak transcription	Right Atrium	heart
32	chr22:32281200-32300800	Weak transcription	Colon Smooth Muscle	Colon
33	chr22:32281400-32293000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:32281400-32301600	Weak transcription	Pancreas	Pancrea
35	chr22:32282600-32293400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:32283400-32296000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr22:32283600-32296000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:32284000-32294000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:32284000-32302200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr22:32285600-32293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:32286200-32294200	Weak transcription	Fetal Brain Female	brain
42	chr22:32286400-32293200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr22:32287400-32295000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr22:32287400-32295200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr22:32287400-32295200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr22:32287600-32295000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr22:32287600-32295800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr22:32287800-32293600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr22:32287800-32302000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr22:32288000-32293400	Weak transcription	NHDF-Ad	bronchial

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