Variant report

Variant	rs737084
Chromosome Location	chr22:32268400-32268401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:32268380-32268530	HEK293	kidney:	n/a	n/a
2	CTCF	chr22:32268280-32268430	GM12864	blood:	n/a	n/a
3	CTCF	chr22:32268380-32268530	HRPEpiC	eye:	n/a	n/a
4	ZNF143	chr22:32268343-32268581	GM12878	blood:	n/a	n/a
5	SMC3	chr22:32268322-32268624	GM12878	blood:	n/a	n/a
6	CTCF	chr22:32268285-32268630	GM12878	blood:	n/a	n/a
7	CTCF	chr22:32268400-32268550	HPF	lung:	n/a	n/a
8	CTCF	chr22:32268358-32268565	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr22:32268400-32268550	GM12875	blood:	n/a	n/a
10	CTCF	chr22:32268392-32268533	Pancreas_OC	pancreas:	n/a	n/a
11	YY1	chr22:32268348-32268524	GM12878	blood:	n/a	n/a
12	RAD21	chr22:32268334-32268515	GM12878	blood:	n/a	n/a
13	RAD21	chr22:32268269-32268649	HepG2	liver:	n/a	n/a
14	CTCF	chr22:32268340-32268490	HCT-116	colon:	n/a	n/a
15	POLR2A	chr22:32268375-32268427	GM12878	blood:	n/a	n/a
16	RAD21	chr22:32268370-32268665	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr22:32268387-32268515	MCF-7	breast:	n/a	n/a
18	CTCF	chr22:32268380-32268530	GM12870	blood:	n/a	n/a
19	CTCF	chr22:32268340-32268490	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr22:32268320-32268470	HBMEC	blood vessel:	n/a	n/a
21	MAX	chr22:32268054-32268633	K562	blood:	n/a	n/a
22	CTCF	chr22:32268320-32268470	HMEC	breast:	n/a	n/a
23	CTCF	chr22:32268340-32268490	SK-N-SH_RA	brain:	n/a	n/a
24	RAD21	chr22:32268283-32268621	K562	blood:	n/a	n/a
25	RAD21	chr22:32268236-32268681	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr22:32268360-32268510	GM12867	blood:	n/a	n/a
27	SMC3	chr22:32268283-32268640	HepG2	liver:	n/a	n/a
28	RAD21	chr22:32268278-32268694	MCF-7	breast:	n/a	n/a
29	MYC	chr22:32268216-32268643	K562	blood:	n/a	n/a
30	RAD21	chr22:32268058-32268721	SK-N-SH	brain:	n/a	n/a
31	SMC3	chr22:32268266-32268669	K562	blood:	n/a	n/a
32	CTCF	chr22:32268380-32268530	BJ	skin:	n/a	n/a
33	CTCF	chr22:32268250-32268702	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr22:32268360-32268510	GM12874	blood:	n/a	n/a
35	CTCF	chr22:32268380-32268530	A549	lung:	n/a	n/a
36	CTCF	chr22:32268360-32268510	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr22:32268389-32268513	NHEK	skin:	n/a	n/a
38	CTCF	chr22:32268360-32268510	GM06990	blood:	n/a	n/a
39	CTCF	chr22:32268341-32268579	MCF-7	breast:	n/a	n/a
40	CTCF	chr22:32268298-32268623	K562	blood:	n/a	n/a
41	CTCF	chr22:32268260-32268410	HVMF	connective:	n/a	n/a
42	MYC	chr22:32268338-32268485	K562	blood:	n/a	n/a
43	CTCF	chr22:32268320-32268470	GM12878	blood:	n/a	n/a
44	CTCF	chr22:32268360-32268510	GM12872	blood:	n/a	n/a
45	CTCF	chr22:32268381-32268526	GM19240	blood:	n/a	n/a
46	RAD21	chr22:32268151-32268689	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr22:32268380-32268530	K562	blood:	n/a	n/a
48	CTCF	chr22:32268239-32268668	HepG2	liver:	n/a	n/a
49	RAD21	chr22:32268195-32268661	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr22:32268335-32268626	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	22:32264718-32278135..22:32846948-32860159	GM12878	blood:
2	chr22:32263494..32270321-chr22:32339054..32343535,9	K562	blood:
3	22:31936958-31958600..22:32264718-32278135	Hela-S3	cervix:
4	chr22:32265561..32271092-chr22:32337255..32342585,8	MCF-7	breast:
5	chr22:32263814..32266452-chr22:32267135..32268805,2	K562	blood:
6	22:32264718-32278135..22:32284948-32287956	Hela-S3	cervix:
7	chr22:32267945..32270075-chr22:32339613..32341959,2	MCF-7	breast:
8	chr22:32267990..32269014-chr22:32342935..32344012,6	K562	blood:
9	chr22:32262877..32264774-chr22:32266602..32269023,2	MCF-7	breast:
10	chr22:32267976..32268815-chr22:32342830..32343681,3	MCF-7	breast:
11	chr22:32056871..32059420-chr22:32266507..32268469,3	MCF-7	breast:
12	chr22:32268348..32268930-chr22:32365701..32366478,2	MCF-7	breast:
13	chr22:32266902..32268906-chr22:32342480..32343944,11	MCF-7	breast:
14	22:32150875-32154575..22:32264718-32278135	GM12878	blood:
15	chr22:32267998..32268527-chr22:32350355..32351078,2	K562	blood:
16	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:

No data

Variant related genes	Relation type
DEPDC5	TF binding region
ENSG00000241878	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1012068	0.82[CHD][hapmap]
rs12170536	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs5994440	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994447	0.80[AFR][1000 genomes]
rs5994448	0.95[ASN][1000 genomes]
rs5998142	0.92[ASN][1000 genomes]
rs5998165	0.87[ASW][hapmap];0.81[LWK][hapmap];0.80[AFR][1000 genomes]
rs62238930	0.83[EUR][1000 genomes]
rs7286575	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619237	0.90[AFR][1000 genomes]
rs9621351	0.86[EUR][1000 genomes]
rs9621357	0.92[CEU][hapmap]
rs9621363	0.80[AFR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs737084	NIPSNAP1	cis	cerebellum	SCAN
rs737084	SLC35E4	cis	parietal	SCAN

Chromatin state (count:132 , 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	chr22:32244600-32270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:32244600-32303400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr22:32247000-32282400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
8	chr22:32247800-32270400	Weak transcription	Psoas Muscle	Psoas
9	chr22:32249200-32289200	Weak transcription	HepG2	liver
10	chr22:32253400-32275600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:32253800-32268800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:32254200-32293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:32254400-32270800	Weak transcription	Small Intestine	intestine
14	chr22:32255400-32273000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:32255800-32282600	Strong transcription	Fetal Muscle Leg	muscle
16	chr22:32256800-32293400	Weak transcription	Fetal Brain Male	brain
17	chr22:32257600-32269200	Weak transcription	Pancreas	Pancrea
18	chr22:32257800-32272000	Weak transcription	NHLF	lung
19	chr22:32259400-32270600	Weak transcription	HSMM	muscle
20	chr22:32261400-32273200	Strong transcription	Primary T cells from cord blood	blood
21	chr22:32261400-32276600	Strong transcription	Fetal Intestine Large	intestine
22	chr22:32261400-32278600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:32261600-32271600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:32261600-32296200	Strong transcription	Liver	Liver
25	chr22:32261800-32273200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr22:32262000-32289600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:32262200-32275400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:32263600-32272600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr22:32263600-32272600	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:32263800-32270200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr22:32263800-32270200	Weak transcription	Stomach Mucosa	stomach
32	chr22:32263800-32271000	Strong transcription	Thymus	Thymus
33	chr22:32264200-32282400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr22:32264200-32287400	Strong transcription	Fetal Stomach	stomach
35	chr22:32264200-32296000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:32264400-32270000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:32264400-32272600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr22:32264400-32276600	Strong transcription	Fetal Intestine Small	intestine
39	chr22:32264400-32287200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:32264600-32272800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:32264600-32273200	Strong transcription	Ovary	ovary
42	chr22:32264800-32271400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr22:32264800-32272800	Strong transcription	Dnd41	blood
44	chr22:32264800-32273000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:32265000-32271200	Strong transcription	Aorta	Aorta
46	chr22:32265000-32271400	Strong transcription	HSMMtube	muscle
47	chr22:32265000-32287000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr22:32265000-32287200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr22:32265200-32273200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr22:32265400-32293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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