Variant report

Variant	rs3788436
Chromosome Location	chr22:32287788-32287789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr22:32287233-32288184	PBDE	blood:	n/a	n/a
2	RCOR1	chr22:32287312-32288148	K562	blood:	n/a	n/a
3	JUND	chr22:32287363-32288076	K562	blood:	n/a	n/a
4	TAL1	chr22:32287403-32288001	K562	blood:	n/a	n/a
5	MAFF	chr22:32287278-32287806	K562	blood:	n/a	n/a
6	CEBPD	chr22:32287360-32287790	K562	blood:	n/a	n/a
7	EP300	chr22:32287450-32287818	K562	blood:	n/a	n/a
8	TEAD4	chr22:32287340-32287804	K562	blood:	n/a	n/a
9	CEBPB	chr22:32287352-32288151	K562	blood:	n/a	n/a
10	ATF1	chr22:32287386-32288169	K562	blood:	n/a	n/a
11	EP300	chr22:32287140-32288051	K562	blood:	n/a	n/a
12	RCOR1	chr22:32287416-32288107	K562	blood:	n/a	n/a
13	TBL1XR1	chr22:32287384-32287992	K562	blood:	n/a	n/a
14	ARID3A	chr22:32287454-32287844	K562	blood:	n/a	n/a
15	GATA2	chr22:32287377-32287807	K562	blood:	n/a	n/a
16	TEAD4	chr22:32287215-32287803	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32284948-32287956..22:32868055-32872511	Hela-S3	cervix:
2	22:31836635-31847259..22:32284948-32287956	Hela-S3	cervix:
3	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
4	22:32162110-32166713..22:32284948-32287956	GM12878	blood:
5	22:32170492-32188129..22:32284948-32287956	Hela-S3	cervix:
6	22:32284948-32287956..22:32338420-32342898	Hela-S3	cervix:
7	22:32284948-32287956..22:32342898-32343477	K562	blood:
8	22:32284948-32287956..22:33190123-33206921	K562	blood:
9	22:32264718-32278135..22:32284948-32287956	Hela-S3	cervix:
10	22:32053085-32061138..22:32284948-32287956	Hela-S3	cervix:
11	22:32284948-32287956..22:32334260-32338420	K562	blood:
12	chr22:32287148..32289580-chr22:32339395..32341919,4	K562	blood:
13	22:31961151-31976153..22:32284948-32287956	K562	blood:
14	22:32284948-32287956..22:32750950-32761732	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227813	TF binding region
ENSG00000100225	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1034419	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703587	0.81[LWK][hapmap];0.88[YRI][hapmap]
rs11703818	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989609	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051583	0.89[LWK][hapmap];0.94[MKK][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs28542543	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213524	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820997	0.81[LWK][hapmap];0.82[YRI][hapmap]
rs5753817	0.81[YRI][hapmap]
rs5994444	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5998139	0.82[AMR][1000 genomes]
rs5998151	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998157	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5998160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998161	0.89[LWK][hapmap];0.89[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs5998170	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5998171	0.86[AMR][1000 genomes]
rs5998172	0.92[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60480657	0.81[AFR][1000 genomes]
rs73884225	0.81[AFR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3788436	TTC28AS	cis	cerebellum	SCAN
rs3788436	SFI1	cis	cerebellum	SCAN

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	chr22:32249200-32289200	Weak transcription	HepG2	liver
7	chr22:32254200-32293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:32256800-32293400	Weak transcription	Fetal Brain Male	brain
9	chr22:32261600-32296200	Strong transcription	Liver	Liver
10	chr22:32262000-32289600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:32264200-32296000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr22:32265400-32293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:32267000-32297400	Weak transcription	Fetal Heart	heart
14	chr22:32268000-32308000	Weak transcription	A549	lung
15	chr22:32271200-32291600	Weak transcription	Small Intestine	intestine
16	chr22:32271200-32303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:32271400-32298400	Weak transcription	HSMMtube	muscle
18	chr22:32271600-32297400	Weak transcription	HSMM	muscle
19	chr22:32272600-32293600	Weak transcription	HUVEC	blood vessel
20	chr22:32272600-32298200	Weak transcription	NHLF	lung
21	chr22:32273000-32304000	Weak transcription	HMEC	breast
22	chr22:32274000-32295000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr22:32274000-32306600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr22:32274400-32306600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr22:32275000-32296200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr22:32275200-32296000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:32275600-32293200	Weak transcription	Psoas Muscle	Psoas
28	chr22:32275600-32295800	Strong transcription	Primary T cells from cord blood	blood
29	chr22:32276000-32289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:32276000-32315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr22:32276200-32289400	Weak transcription	Esophagus	oesophagus
32	chr22:32276200-32291200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:32276600-32293200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr22:32277600-32302400	Weak transcription	NHEK	skin
35	chr22:32279400-32297000	Weak transcription	Stomach Mucosa	stomach
36	chr22:32280400-32291200	Weak transcription	Left Ventricle	heart
37	chr22:32280400-32293400	Weak transcription	Right Ventricle	heart
38	chr22:32281000-32289600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:32281000-32314800	Weak transcription	Right Atrium	heart
40	chr22:32281200-32291400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr22:32281200-32300800	Weak transcription	Colon Smooth Muscle	Colon
42	chr22:32281400-32289200	Weak transcription	Colonic Mucosa	Colon
43	chr22:32281400-32289600	Weak transcription	Aorta	Aorta
44	chr22:32281400-32289600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:32281400-32290000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:32281400-32291000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr22:32281400-32291600	Weak transcription	Brain Germinal Matrix	brain
48	chr22:32281400-32293000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:32281400-32301600	Weak transcription	Pancreas	Pancrea
50	chr22:32281600-32289600	Weak transcription	Gastric	stomach

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